PanelApp (test)

Activity

Filter

Cancel
Date Panel Item Activity
3000 actions
Cerebral Palsy v1.296 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Cerebral Palsy v1.296 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.296 ABCD1 Zornitza Stark Classified gene: ABCD1 as Red List (low evidence)
Cerebral Palsy v1.296 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.295 ARHGEF9 Zornitza Stark Marked gene: ARHGEF9 as ready
Cerebral Palsy v1.295 ARHGEF9 Zornitza Stark Gene: arhgef9 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.295 ARHGEF9 Zornitza Stark Classified gene: ARHGEF9 as Red List (low evidence)
Cerebral Palsy v1.295 ARHGEF9 Zornitza Stark Gene: arhgef9 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.294 ARHGEF9 Clare van Eyk gene: ARHGEF9 was added
gene: ARHGEF9 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ARHGEF9 were set to PMID: 38693247
Phenotypes for gene: ARHGEF9 were set to Developmental and epileptic encephalopathy 8, MIM#300607
Review for gene: ARHGEF9 was set to RED
Added comment: 1 individual reported with hemizygous pathogenic variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Impaired psychomotor development is a feature of DEE8.
Sources: Literature
Cerebral Palsy v1.294 ABCD1 Clare van Eyk gene: ABCD1 was added
gene: ABCD1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ABCD1 were set to PMID: 38693247
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, MIM#300100
Review for gene: ABCD1 was set to RED
Added comment: 1 male with hemizygous pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.

Variable age of onset, even within same family. Heterozygous females may develop spastic paraparesis with bowel and bladder difficulties.
Sources: Literature
Cerebral Palsy v1.294 SMC1A Clare van Eyk gene: SMC1A was added
gene: SMC1A was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: SMC1A were set to PMID: 38693247; 26358754
Phenotypes for gene: SMC1A were set to Developmental and epileptic encephalopathy 85, with or without midline brain defects, MIM#301044
Review for gene: SMC1A was set to RED
Added comment: 1 male reported with apparently hemizygous LOF variant in large-scale exome sequencing study (PMID: 38693247). LOF variants thought to be male-lethal. Detailed clinical information not supplied.

1 female in literature with a heterozygous de novo splice site mutation in SMC1A and severe encephalopathy with early-onset epilepsy who developed spastic tetraparesis (PMID: 26358754)
Sources: Literature
Cerebral Palsy v1.294 SLC35A2 Clare van Eyk gene: SLC35A2 was added
gene: SLC35A2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: SLC35A2 were set to PMID: 38693247
Phenotypes for gene: SLC35A2 were set to Congenital disorder of glycosylation, type IIm, MIM#300896
Review for gene: SLC35A2 was set to RED
Added comment: 1 individual reported with hemizygous stopgain variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Variants cause an epileptic encephalopathy which has been associated with ataxia and hypotonia.
Sources: Literature
Cerebral Palsy v1.294 PDHA1 Clare van Eyk reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency MIM#312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cerebral Palsy v1.294 PCDH19 Clare van Eyk changed review comment from: Variants in PCDH19 cause an X-linked disorder which affects heterozygous females, with hemizygous males largely unaffected. 1 female with heterozygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.; to: 1 female with heterozygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Cerebral Palsy v1.294 PCDH19 Clare van Eyk commented on gene: PCDH19: Variants in PCDH19 cause an X-linked disorder which affects heterozygous females, with hemizygous males largely unaffected. 1 female with heterozygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Cerebral Palsy v1.294 MECP2 Clare van Eyk reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Encephalopathy, neonatal severe - 300673, Intellectual developmental disorder, X-linked syndromic, Lubs type - 300260, Intellectual developmental disorder, X-linked, syndromic 13 - 300055, Rett syndrome - 312750; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cerebral Palsy v1.294 IQSEC2 Clare van Eyk reviewed gene: IQSEC2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Intellectual developmental disorder MIM#309530; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cerebral Palsy v1.294 HUWE1 Clare van Eyk reviewed gene: HUWE1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Turner type, MIM#309590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cerebral Palsy v1.294 CDKL5 Clare van Eyk reviewed gene: CDKL5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Developmental and epileptic encephalopathy 2, MIM#300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cerebral Palsy v1.294 WDR62 Clare van Eyk gene: WDR62 was added
gene: WDR62 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR62 were set to PMID: 38693247
Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM#604317
Review for gene: WDR62 was set to RED
Added comment: 1 individual reported with biallelic pathogenic variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.

MCPH2 is associated with primary microcephaly with variable other neurodevelopmental features. Spastic quadriplegia, hemiplegia, hypertonia are reported.
Sources: Literature
Cerebral Palsy v1.294 VPS53 Clare van Eyk gene: VPS53 was added
gene: VPS53 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS53 were set to PMID: 38693247
Phenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia, type 2E, MIM#615851
Review for gene: VPS53 was set to RED
Added comment: 1 individual reported with biallelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound intellectual disability, progressive microcephaly, spasticity, and early-onset epilepsy. 1 family reported with complex hereditary spastic paraparesis phenotype (PMID: 31418091).
Sources: Literature
Cerebral Palsy v1.294 VPS13B Clare van Eyk gene: VPS13B was added
gene: VPS13B was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13B were set to PMID: 38693247
Phenotypes for gene: VPS13B were set to Cohen syndrome, MIM#216550
Review for gene: VPS13B was set to RED
Added comment: 2 individuals with biallelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.294 TH Clare van Eyk reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247, PMID: 28904579; Phenotypes: Segawa syndrome, recessive, MIM#605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.294 SYNE1 Clare van Eyk reviewed gene: SYNE1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247, PMID: 30275942; Phenotypes: Spinocerebellar ataxia, autosomal recessive 8 MIM#610743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.294 SLC25A12 Clare van Eyk gene: SLC25A12 was added
gene: SLC25A12 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A12 were set to PMID: 31403263; PMID: 38693247
Phenotypes for gene: SLC25A12 were set to Developmental and epileptic encephalopathy 39, MIM#612949
Review for gene: SLC25A12 was set to RED
Added comment: 1 patient with novel compound heterozygous variants reported with spastic quadriplegic cerebral palsy (PMID: 31403263). Additional individual reported with homozygous missense variant in large-scale exome sequencing study (PMID: 38693247), however detailed clinical information and functional support for pathogenicity were not supplied.
Sources: Literature
Cerebral Palsy v1.294 RTTN Clare van Eyk gene: RTTN was added
gene: RTTN was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RTTN were set to PMID: 38693247
Phenotypes for gene: RTTN were set to Microcephaly, short stature, and polymicrogyria with seizures, MIM#614833
Review for gene: RTTN was set to RED
Added comment: 1 individual reported with biallelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Hypotonia and spasticity have been reported in MSSP.
Sources: Literature
Cerebral Palsy v1.294 ROGDI Clare van Eyk gene: ROGDI was added
gene: ROGDI was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROGDI were set to PMID: 38693247
Phenotypes for gene: ROGDI were set to Kohlschutter-Tonz syndrome, MIM#226750
Review for gene: ROGDI was set to RED
Added comment: 1 individual reported with biallelic pathogenic LOF variants (1 stopgain,1 splice) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.

Kohlschutter-Tonz syndrome is characterized by a consistent phenotype of severe global developmental delay, early-onset intractable seizures, progressive spasticity, and amelogenesis imperfecta causing discoloration of both primary and secondary teeth.
Sources: Literature
Speech apraxia v0.8 MKL2 Zornitza Stark changed review comment from: Only two individuals reported.; to: Only two individuals reported with GoF variants.

The variant reported in a third individual in PMID 29463886 is present in >500 individuals in gnomAD v4, and is marked as LCLoF.
Speech apraxia v0.8 MKL2 Zornitza Stark edited their review of gene: MKL2: Changed publications: 29463886
Speech apraxia v0.8 CHD3 Zornitza Stark Marked gene: CHD3 as ready
Speech apraxia v0.8 CHD3 Zornitza Stark Gene: chd3 has been classified as Green List (High Evidence).
Speech apraxia v0.8 CHD3 Zornitza Stark Phenotypes for gene: CHD3 were changed from to Snijders Blok-Campeau syndrome MIM#618205
Speech apraxia v0.7 CHD3 Zornitza Stark Classified gene: CHD3 as Green List (high evidence)
Speech apraxia v0.7 CHD3 Zornitza Stark Gene: chd3 has been classified as Green List (High Evidence).
Speech apraxia v0.6 CHD3 Zornitza Stark reviewed gene: CHD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30397230; Phenotypes: Snijders Blok-Campeau syndrome MIM#618205; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Speech apraxia v0.6 KAT6A Zornitza Stark Marked gene: KAT6A as ready
Speech apraxia v0.6 KAT6A Zornitza Stark Gene: kat6a has been classified as Green List (High Evidence).
Speech apraxia v0.6 KAT6A Zornitza Stark Phenotypes for gene: KAT6A were changed from Childhood apraxia of speech; see comments. to Arboleda-Tham syndrome, MIM# 616268
Speech apraxia v0.5 KAT6A Zornitza Stark Classified gene: KAT6A as Green List (high evidence)
Speech apraxia v0.5 KAT6A Zornitza Stark Gene: kat6a has been classified as Green List (High Evidence).
Speech apraxia v0.4 KAT6A Zornitza Stark reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 35892268; Phenotypes: Arboleda-Tham syndrome, MIM# 616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Speech apraxia v0.4 MKL2 Zornitza Stark Marked gene: MKL2 as ready
Speech apraxia v0.4 MKL2 Zornitza Stark Gene: mkl2 has been classified as Amber List (Moderate Evidence).
Speech apraxia v0.4 MKL2 Zornitza Stark Phenotypes for gene: MKL2 were changed from Childhood apraxia of speech; see comments. to Neurodevelopmental disorder (MONDO:0700092), MKL2-related
Speech apraxia v0.3 MKL2 Zornitza Stark Classified gene: MKL2 as Amber List (moderate evidence)
Speech apraxia v0.3 MKL2 Zornitza Stark Gene: mkl2 has been classified as Amber List (Moderate Evidence).
Speech apraxia v0.2 MKL2 Zornitza Stark reviewed gene: MKL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), MKL2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Speech apraxia v0.2 FOXP2 Zornitza Stark Marked gene: FOXP2 as ready
Speech apraxia v0.2 FOXP2 Zornitza Stark Gene: foxp2 has been classified as Green List (High Evidence).
Speech apraxia v0.2 FOXP2 Zornitza Stark Phenotypes for gene: FOXP2 were changed from Childhood apraxia of speech to Speech-language disorder-1, MIM# 602081
Speech apraxia v0.1 FOXP2 Zornitza Stark Classified gene: FOXP2 as Green List (high evidence)
Speech apraxia v0.1 FOXP2 Zornitza Stark Gene: foxp2 has been classified as Green List (High Evidence).
Speech apraxia v0.0 FOXP2 Zornitza Stark reviewed gene: FOXP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Speech-language disorder-1, MIM# 602081; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.294 PIGN Zornitza Stark Publications for gene: PIGN were set to PMID: 33528536
Cerebral Palsy v1.293 PLA2G6 Zornitza Stark Publications for gene: PLA2G6 were set to 33528536; 34540776; 34788679
Cerebral Palsy v1.292 POLG Zornitza Stark Marked gene: POLG as ready
Cerebral Palsy v1.292 POLG Zornitza Stark Gene: polg has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.292 POLG Zornitza Stark Classified gene: POLG as Amber List (moderate evidence)
Cerebral Palsy v1.292 POLG Zornitza Stark Gene: polg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.251 MYH10 Zornitza Stark Phenotypes for gene: MYH10 were changed from MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly; aqueductal stenosis; Microcephaly; Hip dysplasia to AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465)
Intellectual disability syndromic and non-syndromic v0.6042 MYH10 Zornitza Stark Phenotypes for gene: MYH10 were changed from Microcephaly; Intellectual Disability to AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465)
Microcephaly v1.261 MYH10 Zornitza Stark Phenotypes for gene: MYH10 were changed from Microcephaly; Intellectual Disability to AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465)
Mendeliome v1.1842 MYH10 Zornitza Stark Phenotypes for gene: MYH10 were changed from Microcephaly; Intellectual Disability to AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465)
Cerebral Palsy v1.291 POLG Clare van Eyk gene: POLG was added
gene: POLG was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLG were set to PMID: 33528536; PMID: 38693247
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4a, MIM#203700, Mitochondrial DNA Depletion Syndrome 4B, MIM#613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), MIM#607459
Review for gene: POLG was set to AMBER
Added comment: 1 individual reported with biallelic P/LP missense variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Additional individual reported in clinical referral cohort (PMID: 33528536). Mutations in POLG are associated with a wide range of clinical features including lactic acidosis, seizures, ataxia, peripheral neuropathy, developmental delay, myopathy, chronic progressive external ophthalmoplegia, and hepatopathy.
Sources: Literature
Cerebral Palsy v1.291 PLA2G6 Clare van Eyk reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.291 PIGN Clare van Eyk edited their review of gene: PIGN: Added comment: An additional individual reported with biallelic stopgain variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.; Changed publications: PMID: 33528536, PMID: 34540776, PMID: 38693247
Cerebral Palsy v1.291 PIDD1 Clare van Eyk gene: PIDD1 was added
gene: PIDD1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIDD1 were set to PMID: 38693247
Phenotypes for gene: PIDD1 were set to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM#619827
Review for gene: PIDD1 was set to RED
Added comment: 1 individual reported with biallelic LOF variants reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. PIDD1 is associated with an intellectual developmental disorder with variant lissencephaly.
Sources: Literature
Aminoacidopathy v1.66 OAT Sangavi Sivagnanasundram gene: OAT was added
gene: OAT was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OAT were set to 609808; 23076989; 24429551; 25264521
Phenotypes for gene: OAT were set to ornithine aminotransferase deficiency MONDO:0009796
Review for gene: OAT was set to GREEN
Added comment: Established gene disease association with mouse model recapitulating human phenotype.

Classified DEFINITIVE by ClinGen Aminoacidopathy GCEP on 10/07/2019 - https://search.clinicalgenome.org/CCID:005692
Sources: ClinGen
Aminoacidopathy v1.66 NAT8L Sangavi Sivagnanasundram gene: NAT8L was added
gene: NAT8L was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAT8L were set to 19807691
Phenotypes for gene: NAT8L were set to N-acetylaspartate deficiency MONDO:0013549
Review for gene: NAT8L was set to RED
Added comment: Reported in one individual with N-acetylaspartate deficiency but also has other severe neurological features however the gene-disease association in this individual is unclear.

Classified LIMITED by ClinGen Aminoacidopathy GCEP on 29/03/2024 - https://search.clinicalgenome.org/CCID:005565
Sources: ClinGen
Aminoacidopathy v1.66 NAGS Sangavi Sivagnanasundram gene: NAGS was added
gene: NAGS was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAGS were set to 15714518; 27037498; 22503289
Phenotypes for gene: NAGS were set to hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0009377
Review for gene: NAGS was set to GREEN
Added comment: Established gene-disease with reported individuals having an urea cycle disorder.

Classified DEFINITIVE by ClinGen Aminoacidopathy GCEP on 26/07/2019 - https://search.clinicalgenome.org/CCID:005562
Sources: ClinGen
Aminoacidopathy v1.66 MTRR Sangavi Sivagnanasundram gene: MTRR was added
gene: MTRR was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTRR were set to 10484769; 12555939; 15714522; 17369066
Phenotypes for gene: MTRR were set to methylcobalamin deficiency type cblE MONDO:0009354
Review for gene: MTRR was set to GREEN
Added comment: Well established gene-disease association with reported individuals having errors in cobalamin metabolism.

Classified DEFINITIVE by ClinGen Aminoacidopathy GCEP on 02/7/2021 - https://search.clinicalgenome.org/CCID:005505
Sources: ClinGen
Aminoacidopathy v1.66 MTR Sangavi Sivagnanasundram gene: MTR was added
gene: MTR was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTR were set to 12068375; 30651581; 31951343
Phenotypes for gene: MTR were set to methylcobalamin deficiency type cblG MONDO:0009609
Review for gene: MTR was set to GREEN
Added comment: Well established gene-disease association with reported individuals having a deficiency methionine synthase.

Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 02/7/2021 - https://search.clinicalgenome.org/CCID:005503
Sources: ClinGen
Fetal anomalies v1.250 FUZ Zornitza Stark Mode of inheritance for gene: FUZ was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1841 FUZ Zornitza Stark Mode of inheritance for gene: FUZ was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.66 MTHFR Sangavi Sivagnanasundram gene: MTHFR was added
gene: MTHFR was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFR were set to 26872964
Phenotypes for gene: MTHFR were set to homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353
Review for gene: MTHFR was set to GREEN
Added comment: Established gene-disease association with reported individuals having reported elevated homocysteine and decreased methionine.

Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 18/06/2019 - https://search.clinicalgenome.org/CCID:005497
Sources: ClinGen
Aminoacidopathy v1.66 MPST Sangavi Sivagnanasundram gene: MPST was added
gene: MPST was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: MPST was set to Unknown
Phenotypes for gene: MPST were set to encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0009585
Review for gene: MPST was set to RED
Added comment: No reported individuals with deficiency in MPST enzymatic activity.

No known disease relationship classification given by ClinGen Aminoacidopathy GCEP on
28/04/2023 - https://search.clinicalgenome.org/CCID:005413
Sources: ClinGen
Aminoacidopathy v1.66 MMACHC Sangavi Sivagnanasundram gene: MMACHC was added
gene: MMACHC was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 26149271; 28693988; 18164228; 16963011; 30157807; 16311595; 23580368
Phenotypes for gene: MMACHC were set to methylmalonic aciduria and homocystinuria type cblC MONDO:0010184
Review for gene: MMACHC was set to GREEN
Added comment: Well established gene disease association with reported individuals having errors in biochemical function.

Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:005397
Sources: ClinGen
Aminoacidopathy v1.66 MCEE Sangavi Sivagnanasundram gene: MCEE was added
gene: MCEE was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCEE were set to 16697227; 17823972; 27699154; 29104221; 30682498; 31146325
Phenotypes for gene: MCEE were set to methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615
Review for gene: MCEE was set to GREEN
Added comment: Established gene-disease association with >10 probands reported with variants in this gene.

Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 09/07/2020 - https://search.clinicalgenome.org/CCID:005348
Sources: ClinGen
Aminoacidopathy v1.66 MAT1A Sangavi Sivagnanasundram gene: MAT1A was added
gene: MAT1A was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAT1A were set to 9042912; 11320206
Phenotypes for gene: MAT1A were set to methionine adenosyltransferase deficiency MONDO:0009607
Mode of pathogenicity for gene: MAT1A was set to Other
Review for gene: MAT1A was set to GREEN
Added comment: Well established gene-disease association. Dominant negative appears to be the mechanism of disease.

Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 13/09/2019 - https://search.clinicalgenome.org/CCID:005340
Sources: ClinGen
Speech apraxia v0.0 MKL2 Thomas Scerri changed review comment from: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023).

Additional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues (PMID: 38366112).
Sources: Expert list, Expert Review; to: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023).

Additional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues (PMID: 38366112).
Sources: Expert list, Expert Review
Speech apraxia v0.0 KAT6A Thomas Scerri changed review comment from: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population (PMID: 38366112).
Sources: Expert list, Expert Review; to: Additional phenotypes: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population (PMID: 38366112).
Sources: Expert list, Expert Review
Speech apraxia v0.0 FOXP2 Thomas Scerri changed review comment from: Cognition ranges from average to mild ID, feeding difficulties in infancy, fine & gross motor impairment, ASD, language impairment, anxiety, depression, sleep disturbance (PMID: 38366112).; to: Additional phenotypes: Cognition ranges from average to mild ID, feeding difficulties in infancy, fine & gross motor impairment, ASD, language impairment, anxiety, depression, sleep disturbance (PMID: 38366112).
Speech apraxia v0.0 CHD3 Thomas Scerri changed review comment from: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported (PMID: 38366112).; to: Additional phenotypes: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported (PMID: 38366112).
Speech apraxia v0.0 FOXP2 Thomas Scerri edited their review of gene: FOXP2: Changed publications: 11586359, 36328423, 38366112
Speech apraxia v0.0 CHD3 Thomas Scerri edited their review of gene: CHD3: Changed publications: 30397230, 38366112, 35346573
Speech apraxia v0.0 MKL2 Thomas Scerri edited their review of gene: MKL2: Changed rating: GREEN
Speech apraxia v0.0 MKL2 Thomas Scerri changed review comment from: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023).

Additional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues. AT Morgan et al., (2024).
Sources: Expert list, Expert Review; to: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023).

Additional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues (PMID: 38366112).
Sources: Expert list, Expert Review
Speech apraxia v0.0 KAT6A Thomas Scerri changed review comment from: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population. (PMID: 38366112).
Sources: Expert list, Expert Review; to: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population (PMID: 38366112).
Sources: Expert list, Expert Review
Speech apraxia v0.0 FOXP2 Thomas Scerri changed review comment from: Cognition ranges from average to mild ID, feeding difficulties in infancy, fine & gross motor impairment, ASD, language impairment, anxiety, depression, sleep disturbance. (PMID: 38366112).; to: Cognition ranges from average to mild ID, feeding difficulties in infancy, fine & gross motor impairment, ASD, language impairment, anxiety, depression, sleep disturbance (PMID: 38366112).
Speech apraxia v0.0 CHD3 Thomas Scerri changed review comment from: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported. (PMID: 38366112).; to: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported (PMID: 38366112).
Cerebral Palsy v1.291 PCLO Clare van Eyk gene: PCLO was added
gene: PCLO was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCLO were set to PMID: 38693247
Phenotypes for gene: PCLO were set to Pontocerebellar hypoplasia, type 3, MIM#608027
Review for gene: PCLO was set to RED
Added comment: 1 individual reported with homozygous stopgain variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Speech apraxia v0.0 KAT6A Thomas Scerri changed review comment from: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population. AT Morgan et al., (2024).
Sources: Expert list, Expert Review; to: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population. (PMID: 38366112).
Sources: Expert list, Expert Review
Speech apraxia v0.0 FOXP2 Thomas Scerri changed review comment from: Cognition ranges from average to mild ID, feeding difficulties in infancy, fine & gross motor impairment, ASD, language impairment, anxiety, depression, sleep disturbance. AT Morgan et al., (2024).; to: Cognition ranges from average to mild ID, feeding difficulties in infancy, fine & gross motor impairment, ASD, language impairment, anxiety, depression, sleep disturbance. (PMID: 38366112).
Speech apraxia v0.0 CHD3 Thomas Scerri changed review comment from: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported. AT Morgan et al., (2024).; to: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported. (PMID: 38366112).
Speech apraxia v0.0 CHD3 Thomas Scerri changed review comment from: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported. AT Morgan et al. (2024).; to: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported. AT Morgan et al., (2024).
Speech apraxia v0.0 KAT6A Thomas Scerri changed review comment from: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population. AT Morgan et al. (2024).
Sources: Expert list, Expert Review; to: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population. AT Morgan et al., (2024).
Sources: Expert list, Expert Review
Speech apraxia v0.0 MKL2 Thomas Scerri gene: MKL2 was added
gene: MKL2 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: MKL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MKL2 were set to 29463886; 37013900; 38366112
Phenotypes for gene: MKL2 were set to Childhood apraxia of speech; see comments.
Penetrance for gene: MKL2 were set to Complete
Added comment: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023).

Additional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues. AT Morgan et al., (2024).
Sources: Expert list, Expert Review
Cerebral Palsy v1.291 MYO9A Clare van Eyk gene: MYO9A was added
gene: MYO9A was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO9A were set to PMID: 38693247
Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic, MIM#618198
Review for gene: MYO9A was set to RED
Added comment: 2 individuals reported with biallelic P/LP variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.291 PCDH12 Clare van Eyk commented on gene: PCDH12: 2 additional individuals reported with biallelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Cerebral Palsy v1.291 MUT Clare van Eyk gene: MUT was added
gene: MUT was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MUT were set to PMID: 38693247
Phenotypes for gene: MUT were set to Methylmalonic aciduria, MIM#251000
Review for gene: MUT was set to AMBER
Added comment: 1 individual reported with homozygous pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Methylmalonic aciduria has a broad clinical spectrum, with neurologic manifestations, such as seizure, encephalopathy, and stroke, frequently reported.
Sources: Literature
Speech apraxia v0.0 KAT6A Thomas Scerri gene: KAT6A was added
gene: KAT6A was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT6A were set to 35892268; 38366112; 30245513
Phenotypes for gene: KAT6A were set to Childhood apraxia of speech; see comments.
Penetrance for gene: KAT6A were set to Complete
Review for gene: KAT6A was set to GREEN
Added comment: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population. AT Morgan et al. (2024).
Sources: Expert list, Expert Review
Speech apraxia v0.0 CHD3 Thomas Scerri edited their review of gene: CHD3: Added comment: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported. AT Morgan et al. (2024).; Changed phenotypes: Childhood apraxia of speech, see comments.
Speech apraxia v0.0 FOXP2 Thomas Scerri edited their review of gene: FOXP2: Added comment: Cognition ranges from average to mild ID, feeding difficulties in infancy, fine & gross motor impairment, ASD, language impairment, anxiety, depression, sleep disturbance. AT Morgan et al., (2024).; Changed phenotypes: Childhood apraxia of speech, see comments.
Cerebral Palsy v1.291 MOCS1 Clare van Eyk reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency A MIM#252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.291 MMACHC Clare van Eyk gene: MMACHC was added
gene: MMACHC was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to PMID: 38693247
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Review for gene: MMACHC was set to AMBER
Added comment: 3 individuals reported with biallelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Variable age at onset with frequent neurological and cardiovascular sequelae.
Sources: Literature
Cerebral Palsy v1.291 MCCC2 Clare van Eyk gene: MCCC2 was added
gene: MCCC2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCCC2 were set to PMID: 38693247
Phenotypes for gene: MCCC2 were set to 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MIM#210210
Review for gene: MCCC2 was set to AMBER
Added comment: 1 individual reported with homozygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. MCC2D is an autosomal recessive disorder of leucine catabolism. Highly variable clinical phenotype ranging from neonatal onset with severe neurologic involvement to asymptomatic adults. Additional individuals with a clinical diagnosis of CP or overlapping clinical presentation can be found in the literature (e.g. PMID: 9187484, PMID: 10485305)
Sources: Literature
Cerebral Palsy v1.291 LZTR1 Clare van Eyk gene: LZTR1 was added
gene: LZTR1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: LZTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LZTR1 were set to PMID: 38693247
Phenotypes for gene: LZTR1 were set to Noonan syndrome 2, MIM#605275
Review for gene: LZTR1 was set to RED
Added comment: 1 individual reported with homozygous pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.291 LRP2 Clare van Eyk gene: LRP2 was added
gene: LRP2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRP2 were set to PMID: 38693247
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, MIM#222448
Review for gene: LRP2 was set to RED
Added comment: 1 individual reported with compound heterozygous predicted LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. DBS is associated with multiple congenital anomalies.
Sources: Literature
Cerebral Palsy v1.291 LAMA1 Clare van Eyk gene: LAMA1 was added
gene: LAMA1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA1 were set to PMID: 38693247
Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, MIM#615960
Review for gene: LAMA1 was set to RED
Added comment: 1 individual reported with biallelic pathogenic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Cerebellar cysts and periventricular white matter abnormalities are common imaging findings in Poretti-Boltshauser syndrome.
Sources: Literature
Mendeliome v1.1840 THRB Achchuthan Shanmugasundram reviewed gene: THRB: Rating: AMBER; Mode of pathogenicity: None; Publications: 37547476; Phenotypes: inherited retinal dystrophy, MONDO:0019118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1840 SUMF1 Achchuthan Shanmugasundram changed review comment from: PMID:38863195 reported three unrelated cases with biallelic SUMF1 variants and retinal dystrophy. One of them was a paediatric patient with an attenuated phenotype, while the other two are adult patients with non-syndromic retinal dystrophy.; to: PMID:38863195 reported three unrelated cases with biallelic SUMF1 variants and retinal dystrophy. One of them was a paediatric patient with an attenuated phenotype, while the other two are adult patients with non-syndromic retinal dystrophy.

Retinal dystrophy is part of the multiple sulfatase deficiency phenotype (MIM #272200) typically associated with biallelic variants in SUMF1, and these cases show that presumed hypomorphic variants in SUMF1 may also be associated with non-syndromic retinal dystrophy.
Mendeliome v1.1840 SUMF1 Achchuthan Shanmugasundram reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38863195; Phenotypes: inherited retinal dystrophy, MONDO:0019118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Speech apraxia v0.0 CHD3 Thomas Scerri edited their review of gene: CHD3: Changed phenotypes: Childhood apraxia of speech
Speech apraxia v0.0 CHD3 Thomas Scerri gene: CHD3 was added
gene: CHD3 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD3 were set to PMID: 30397230; 38366112; 35346573
Penetrance for gene: CHD3 were set to Complete
Review for gene: CHD3 was set to GREEN
Added comment: Variant p.Leu915Phe yielded increased activity (PMID: 30397230).
Evidence of reduced penetrance and variable expressivity (PMID: 35346573).
Sources: Expert list, Expert Review
Speech apraxia v0.0 FOXP2 Thomas Scerri gene: FOXP2 was added
gene: FOXP2 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP2 were set to PMID: 11586359; 36328423; 38366112
Phenotypes for gene: FOXP2 were set to Childhood apraxia of speech
Penetrance for gene: FOXP2 were set to Complete
Review for gene: FOXP2 was set to GREEN
Added comment: Sources: Expert list, Expert Review
Mendeliome v1.1840 PRRX1 Melanie Marty changed review comment from: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del) or missense variants affecting the homeodomain.
> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%.
> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)
> Authors discuss how the previous reports of agnathia-otocephaly doesn't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.

Supporting evidence:
> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)

>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)

>Agnathia-otocephaly complex, 2 x missense variants (1 x het, 1 x hom) and 2 x frameshifts reported (het). The frameshift variants both occur in a poly A tract (PMID: 21294718, PMID: 22674740, PMID: 23444262, PMID: 22211708). Authors of the more recent publication on Craniosynostosis (PMID: 37154149) cast some doubt on the reports for Agnathia-otocephaly, possible explanations discussed are that this condition is AR and a 2nd hit was missed or another cause was not identified such as variants in OTX2.

> PMID: 7758948 generated a loss-of-function mutation in the mouse Pmx1 gene. Mice homozygous for the mutant allele died soon after birth and exhibited defects of skeletogenesis, which involved the loss or malformation of craniofacial, limb, and vertebral skeletal structures. ; to: Craniosynostosis (MONDO:0015469), PRRX1-related
> 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del) or missense variants affecting the homeodomain.
> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%.
> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)
> Authors discuss how the previous reports of agnathia-otocephaly doesn't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.

Supporting evidence:
> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)

>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)

Agnathia-otocephaly complex, MIM# 202650
>Agnathia-otocephaly complex, 2 x missense variants (1 x het, 1 x hom) and 2 x frameshifts reported (het). The frameshift variants both occur in a poly A tract (PMID: 21294718, PMID: 22674740, PMID: 23444262, PMID: 22211708). Authors of the more recent publication on Craniosynostosis (PMID: 37154149) cast some doubt on the reports for Agnathia-otocephaly, possible explanations discussed are that this condition is AR and a 2nd hit was missed or another cause was not identified such as variants in OTX2.

> PMID: 7758948 generated a loss-of-function mutation in the mouse Pmx1 gene. Mice homozygous for the mutant allele died soon after birth and exhibited defects of skeletogenesis, which involved the loss or malformation of craniofacial, limb, and vertebral skeletal structures.
Mendeliome v1.1840 PRRX1 Melanie Marty changed review comment from: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del) or missense variants affecting the homeodomain.
> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%.
> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)
> Authors discuss how the previous reports of agnathia-otocephaly doesn't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.

Supporting evidence:
> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)

>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)

>Agnathia-otocephaly complex, 2 x missense variants (1 x het, 1 x hom) and 2 x frameshifts reported (het). The frameshift variants both occur in a poly A tract (PMID: 21294718, PMID: 22674740, PMID: 23444262, PMID: 22211708). Authors of the more recent publication on Craniosynostosis (PMID: 37154149) cast some doubt on the reports for Agnathia-otocephaly, possible explanations discussed are that this condition is AR and a 2nd hit was missed or another cause was not identified such as variants in OTX2.; to: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del) or missense variants affecting the homeodomain.
> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%.
> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)
> Authors discuss how the previous reports of agnathia-otocephaly doesn't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.

Supporting evidence:
> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)

>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)

>Agnathia-otocephaly complex, 2 x missense variants (1 x het, 1 x hom) and 2 x frameshifts reported (het). The frameshift variants both occur in a poly A tract (PMID: 21294718, PMID: 22674740, PMID: 23444262, PMID: 22211708). Authors of the more recent publication on Craniosynostosis (PMID: 37154149) cast some doubt on the reports for Agnathia-otocephaly, possible explanations discussed are that this condition is AR and a 2nd hit was missed or another cause was not identified such as variants in OTX2.

> PMID: 7758948 generated a loss-of-function mutation in the mouse Pmx1 gene. Mice homozygous for the mutant allele died soon after birth and exhibited defects of skeletogenesis, which involved the loss or malformation of craniofacial, limb, and vertebral skeletal structures.
Mendeliome v1.1840 PRRX1 Melanie Marty changed review comment from: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del) or missense variants affecting the homeodomain.
> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%.
> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)
> Authors discuss how the previous reports of agnathia-otocephaly doesn't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.

Supporting evidence:
> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)

>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)

>Agnathia-otocephaly complex, 2 x missense variants (1 x het, 1 x hom) and 2 x frameshifts reported (het). The frameshift variants both occur in a poly A tract (PMID: 21294718, PMID: 22674740, PMID: 23444262, PMID: 22211708).; to: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del) or missense variants affecting the homeodomain.
> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%.
> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)
> Authors discuss how the previous reports of agnathia-otocephaly doesn't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.

Supporting evidence:
> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)

>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)

>Agnathia-otocephaly complex, 2 x missense variants (1 x het, 1 x hom) and 2 x frameshifts reported (het). The frameshift variants both occur in a poly A tract (PMID: 21294718, PMID: 22674740, PMID: 23444262, PMID: 22211708). Authors of the more recent publication on Craniosynostosis (PMID: 37154149) cast some doubt on the reports for Agnathia-otocephaly, possible explanations discussed are that this condition is AR and a 2nd hit was missed or another cause was not identified such as variants in OTX2.
Mendeliome v1.1840 PRRX1 Melanie Marty changed review comment from: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del) or missense variants affecting the homeodomain.
> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%.
> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)
> Authors discuss how the previous reports of agnathia-otocephaly doen't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.

Supporting evidence:
> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)

>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)

>Agnathia-otocephaly complex, 2 x missense variants (1 x het, 1 x hom) and 2 x frameshifts reported (het). The frameshift variants both occur in a poly A tract (PMID: 21294718, PMID: 22674740, PMID: 23444262, PMID: 22211708).; to: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del) or missense variants affecting the homeodomain.
> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%.
> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)
> Authors discuss how the previous reports of agnathia-otocephaly doesn't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.

Supporting evidence:
> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)

>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)

>Agnathia-otocephaly complex, 2 x missense variants (1 x het, 1 x hom) and 2 x frameshifts reported (het). The frameshift variants both occur in a poly A tract (PMID: 21294718, PMID: 22674740, PMID: 23444262, PMID: 22211708).
Mendeliome v1.1840 PRRX1 Melanie Marty changed review comment from: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del) or missense variants affecting the homeodomain.
> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%.
> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)
> Authors discuss how the previous reports of agnathia-otocephaly don't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.


Supporting evidence:
> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)

>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651); to: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del) or missense variants affecting the homeodomain.
> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%.
> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)
> Authors discuss how the previous reports of agnathia-otocephaly doen't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.

Supporting evidence:
> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)

>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)

>Agnathia-otocephaly complex, 2 x missense variants (1 x het, 1 x hom) and 2 x frameshifts reported (het). The frameshift variants both occur in a poly A tract (PMID: 21294718, PMID: 22674740, PMID: 23444262, PMID: 22211708).
Mendeliome v1.1840 PRRX1 Melanie Marty changed review comment from: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del) or missense variants affecting the homeodomain.
> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%.
> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)

Supporting evidence:
> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)

>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651); to: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del) or missense variants affecting the homeodomain.
> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%.
> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)
> Authors discuss how the previous reports of agnathia-otocephaly don't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.


Supporting evidence:
> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)

>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)
Mendeliome v1.1840 PRRX1 Melanie Marty reviewed gene: PRRX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37154149, 28366454, 34376651; Phenotypes: Craniosynostosis (MONDO:0015469), PRRX1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6041 AFF2 Zornitza Stark Phenotypes for gene: AFF2 were changed from Mental retardation, X-linked, FRAXE type 309548 to Intellectual disability, X-linked, FRAXE type 309548
Intellectual disability syndromic and non-syndromic v0.6040 AFF2 Zornitza Stark Mode of inheritance for gene: AFF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.6039 AFF2 Zornitza Stark Mode of inheritance for gene: AFF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.6038 AFF2 Zornitza Stark edited their review of gene: AFF2: Changed phenotypes: Intellectual disability, X-linked, FRAXE type 309548; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.1840 AFF2 Zornitza Stark Phenotypes for gene: AFF2 were changed from Mental retardation, X-linked, FRAXE type 309548 to Intellectual disability, X-linked, FRAXE type, MIM#309548
Mendeliome v1.1839 AFF2 Zornitza Stark Mode of inheritance for gene: AFF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.1838 AFF2 Zornitza Stark edited their review of gene: AFF2: Changed phenotypes: Intellectual disability, X-linked, FRAXE type 309548; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebral Palsy v1.291 KIF14 Zornitza Stark Marked gene: KIF14 as ready
Cerebral Palsy v1.291 KIF14 Zornitza Stark Gene: kif14 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.291 KIF14 Zornitza Stark Classified gene: KIF14 as Red List (low evidence)
Cerebral Palsy v1.291 KIF14 Zornitza Stark Gene: kif14 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.290 KIF14 Clare van Eyk gene: KIF14 was added
gene: KIF14 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF14 were set to PMID: 38693247
Phenotypes for gene: KIF14 were set to Microcephaly 20, primary, MIM#617914
Review for gene: KIF14 was set to RED
Added comment: 1 individual reported with biallelic variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.290 GCDH Zornitza Stark Phenotypes for gene: GCDH were changed from Glutaricaciduria, type I MIM#231670 to Glutaric aciduria, type I MIM#231670
Cerebral Palsy v1.289 GCDH Zornitza Stark Publications for gene: GCDH were set to 30542205; 26593172
Cerebral Palsy v1.288 GCDH Zornitza Stark Classified gene: GCDH as Green List (high evidence)
Cerebral Palsy v1.288 GCDH Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
Mendeliome v1.1838 RDH14 Zornitza Stark Marked gene: RDH14 as ready
Mendeliome v1.1838 RDH14 Zornitza Stark Gene: rdh14 has been classified as Red List (Low Evidence).
Mendeliome v1.1838 RDH14 Zornitza Stark gene: RDH14 was added
gene: RDH14 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RDH14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RDH14 were set to 34848785
Phenotypes for gene: RDH14 were set to Neurodevelopmental disorder, MONDO:0700092, RDH14-related
Review for gene: RDH14 was set to RED
Added comment: Two related individuals with ID and cerebellar atrophy and homozygous LoF variant reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6038 RDH14 Zornitza Stark Marked gene: RDH14 as ready
Intellectual disability syndromic and non-syndromic v0.6038 RDH14 Zornitza Stark Gene: rdh14 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.6038 RDH14 Zornitza Stark gene: RDH14 was added
gene: RDH14 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RDH14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RDH14 were set to 34848785
Phenotypes for gene: RDH14 were set to Neurodevelopmental disorder, MONDO:0700092, RDH14-related
Review for gene: RDH14 was set to RED
Added comment: Two related individuals with ID and cerebellar atrophy and homozygous LoF variant reported.
Sources: Literature
Brain Calcification v1.96 Zornitza Stark removed gene:GBA from the panel
Cerebral Palsy v1.287 HSPD1 Zornitza Stark Marked gene: HSPD1 as ready
Cerebral Palsy v1.287 HSPD1 Zornitza Stark Gene: hspd1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.287 HSPD1 Zornitza Stark Classified gene: HSPD1 as Red List (low evidence)
Cerebral Palsy v1.287 HSPD1 Zornitza Stark Gene: hspd1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.286 GBA Zornitza Stark Marked gene: GBA as ready
Cerebral Palsy v1.286 GBA Zornitza Stark Gene: gba has been classified as Red List (Low Evidence).
Cerebral Palsy v1.286 GBA Zornitza Stark Classified gene: GBA as Red List (low evidence)
Cerebral Palsy v1.286 GBA Zornitza Stark Gene: gba has been classified as Red List (Low Evidence).
Cerebral Palsy v1.285 GALC Zornitza Stark Marked gene: GALC as ready
Cerebral Palsy v1.285 GALC Zornitza Stark Gene: galc has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.285 GALC Zornitza Stark Classified gene: GALC as Amber List (moderate evidence)
Cerebral Palsy v1.285 GALC Zornitza Stark Gene: galc has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.284 Zornitza Stark removed gene:AGA from the panel
Cerebral Palsy v1.283 HSPD1 Clare van Eyk gene: HSPD1 was added
gene: HSPD1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPD1 were set to PMID: 38693247
Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, MIM#612233
Review for gene: HSPD1 was set to RED
Added comment: 1 individual reported with homozygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. HLD4 has been reported to show rapidly progressive prominent spasticity and developmental regression.
Sources: Literature
Cerebral Palsy v1.283 GCDH Clare van Eyk reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Glutaricaciduria, type I MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.283 GBA Clare van Eyk gene: GBA was added
gene: GBA was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA were set to PMID: 38693247
Phenotypes for gene: GBA were set to Gaucher disease, MIM#231000
Review for gene: GBA was set to RED
Added comment: 1 individual reported with homozygous pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Gaucher disease can be associated with ataxia, dystonia and spasticity with variable age of onset.
Sources: Literature
Sources: Literature
Brain Calcification v1.95 GBA Clare van Eyk Deleted their review
Brain Calcification v1.95 GBA Clare van Eyk gene: GBA was added
gene: GBA was added to Brain Calcification. Sources: Literature
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA were set to PMID: 38693247
Phenotypes for gene: GBA were set to Gaucher disease, MIM#231000
Review for gene: GBA was set to RED
Added comment: 1 individual reported with homozygous pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Gaucher disease can be associated with ataxia, dystonia and spasticity with variable age of onset.
Sources: Literature
Cerebral Palsy v1.283 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Cerebral Palsy v1.283 FAM20C Zornitza Stark Gene: fam20c has been classified as Red List (Low Evidence).
Cerebral Palsy v1.283 FAM20C Zornitza Stark Classified gene: FAM20C as Red List (low evidence)
Cerebral Palsy v1.283 FAM20C Zornitza Stark Gene: fam20c has been classified as Red List (Low Evidence).
Cerebral Palsy v1.282 GAMT Zornitza Stark Marked gene: GAMT as ready
Cerebral Palsy v1.282 GAMT Zornitza Stark Gene: gamt has been classified as Red List (Low Evidence).
Cerebral Palsy v1.282 GAMT Zornitza Stark Classified gene: GAMT as Red List (low evidence)
Cerebral Palsy v1.282 GAMT Zornitza Stark Gene: gamt has been classified as Red List (Low Evidence).
Cerebral Palsy v1.281 GAMT Clare van Eyk gene: GAMT was added
gene: GAMT was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAMT were set to PMID: 38693247
Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2, MIM#612736
Review for gene: GAMT was set to AMBER
Added comment: 1 individual reported with CP and biallelic variants (missense and stopgain) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Cerebral creatine deficiency syndrome 2 is associated with prominent movement disturbances and can be initially diagnosed as CP (PMID: 31380813).
Sources: Literature
Cerebral Palsy v1.281 FAM20C Clare van Eyk gene: FAM20C was added
gene: FAM20C was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20C were set to PMID: 38693247
Phenotypes for gene: FAM20C were set to Raine syndrome, MIM#259775
Review for gene: FAM20C was set to RED
Added comment: 1 individual reported with biallelic variants (1 stopgain, 1 frameshift) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Raine syndrome was originally described as a neonatal osteosclerotic bone dysplasia of early and aggressive onset usually resulting in death within the first few weeks of life, however more recently non-lethal cases with a variable spectrum of features including neurological have been described (PMID: 32299476).
Sources: Literature
Aminoacidopathy v1.66 HGD Zornitza Stark Marked gene: HGD as ready
Aminoacidopathy v1.66 HGD Zornitza Stark Gene: hgd has been classified as Green List (High Evidence).
Aminoacidopathy v1.66 HGD Zornitza Stark Classified gene: HGD as Green List (high evidence)
Aminoacidopathy v1.66 HGD Zornitza Stark Gene: hgd has been classified as Green List (High Evidence).
Aminoacidopathy v1.65 HIBADH Zornitza Stark Marked gene: HIBADH as ready
Aminoacidopathy v1.65 HIBADH Zornitza Stark Gene: hibadh has been classified as Red List (Low Evidence).
Aminoacidopathy v1.65 HIBADH Zornitza Stark Classified gene: HIBADH as Red List (low evidence)
Aminoacidopathy v1.65 HIBADH Zornitza Stark Gene: hibadh has been classified as Red List (Low Evidence).
Aminoacidopathy v1.64 HPD Zornitza Stark Marked gene: HPD as ready
Aminoacidopathy v1.64 HPD Zornitza Stark Gene: hpd has been classified as Green List (High Evidence).
Aminoacidopathy v1.64 HPD Zornitza Stark Classified gene: HPD as Green List (high evidence)
Aminoacidopathy v1.64 HPD Zornitza Stark Gene: hpd has been classified as Green List (High Evidence).
Mendeliome v1.1837 HYKK Zornitza Stark Marked gene: HYKK as ready
Mendeliome v1.1837 HYKK Zornitza Stark Gene: hykk has been classified as Red List (Low Evidence).
Mendeliome v1.1837 HYKK Zornitza Stark gene: HYKK was added
gene: HYKK was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HYKK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYKK were set to 23242558
Phenotypes for gene: HYKK were set to inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351
Review for gene: HYKK was set to RED
Added comment: No known gene-disease association as classified by ClinGen Aminoacidopathy GCEP on 14/07/2023 - https://search.clinicalgenome.org/CCID:005104 HYKK has been reported as a disorders of lysine, hydroxylysine, and tryptophan metabolism by ICIMD however there are no reported pathogenic variants in this gene to support the gene-disease association.
Sources: Literature
Cerebral Palsy v1.281 GALC Clare van Eyk gene: GALC was added
gene: GALC was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALC were set to PMID: 38693247
Phenotypes for gene: GALC were set to Krabbe disease, MIM#245200
Review for gene: GALC was set to AMBER
Added comment: 2 individuals reported with biallelic P/LP variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Krabbe disease is associated with progressive spasticity with variable at age at onset. Later onset can be associated with a slower progression and can mimic CP.
Sources: Literature
Aminoacidopathy v1.63 HYKK Zornitza Stark Marked gene: HYKK as ready
Aminoacidopathy v1.63 HYKK Zornitza Stark Gene: hykk has been classified as Red List (Low Evidence).
Aminoacidopathy v1.63 HYKK Zornitza Stark Classified gene: HYKK as Red List (low evidence)
Aminoacidopathy v1.63 HYKK Zornitza Stark Gene: hykk has been classified as Red List (Low Evidence).
Mendeliome v1.1836 KMO Zornitza Stark Marked gene: KMO as ready
Mendeliome v1.1836 KMO Zornitza Stark Gene: kmo has been classified as Red List (Low Evidence).
Mendeliome v1.1836 KMO Zornitza Stark gene: KMO was added
gene: KMO was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KMO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KMO were set to 28187857; 24189070
Phenotypes for gene: KMO were set to pellagra MONDO:0019975
Review for gene: KMO was set to RED
Added comment: Classified as no known disease relationship by ClinGen Aminoacidopathy GCEP on 12/05/2023 - https://search.clinicalgenome.org/CCID:005248 Only two knock out mouse models have ben reported that exhibited behavioural changes including memory impairment and anxiety like behaviour. Not reported as disease causing in any affected individuals at this stage and no evidence of any inborn errors of amino acid metabolism.
Sources: Literature
Aminoacidopathy v1.62 KMO Zornitza Stark Marked gene: KMO as ready
Aminoacidopathy v1.62 KMO Zornitza Stark Gene: kmo has been classified as Red List (Low Evidence).
Aminoacidopathy v1.62 KMO Zornitza Stark Classified gene: KMO as Red List (low evidence)
Aminoacidopathy v1.62 KMO Zornitza Stark Gene: kmo has been classified as Red List (Low Evidence).
Vitamin metabolism disorders v1.6 MCEE Zornitza Stark Marked gene: MCEE as ready
Vitamin metabolism disorders v1.6 MCEE Zornitza Stark Gene: mcee has been classified as Green List (High Evidence).
Cerebral Palsy v1.281 DDX59 Zornitza Stark Marked gene: DDX59 as ready
Cerebral Palsy v1.281 DDX59 Zornitza Stark Gene: ddx59 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.281 DDX59 Zornitza Stark Classified gene: DDX59 as Red List (low evidence)
Cerebral Palsy v1.281 DDX59 Zornitza Stark Gene: ddx59 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.280 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Cerebral Palsy v1.280 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.280 DHCR7 Zornitza Stark Classified gene: DHCR7 as Red List (low evidence)
Cerebral Palsy v1.280 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.279 DIAPH1 Zornitza Stark Marked gene: DIAPH1 as ready
Cerebral Palsy v1.279 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.279 DIAPH1 Zornitza Stark Classified gene: DIAPH1 as Red List (low evidence)
Cerebral Palsy v1.279 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.184 LMNA Zornitza Stark Marked gene: LMNA as ready
Deafness_IsolatedAndComplex v1.184 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.184 LMNA Zornitza Stark Classified gene: LMNA as Green List (high evidence)
Deafness_IsolatedAndComplex v1.184 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Cerebral Palsy v1.278 DUOX2 Zornitza Stark Marked gene: DUOX2 as ready
Cerebral Palsy v1.278 DUOX2 Zornitza Stark Gene: duox2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.278 DUOX2 Zornitza Stark Classified gene: DUOX2 as Red List (low evidence)
Cerebral Palsy v1.278 DUOX2 Zornitza Stark Gene: duox2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.277 EPG5 Zornitza Stark Marked gene: EPG5 as ready
Cerebral Palsy v1.277 EPG5 Zornitza Stark Gene: epg5 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.277 EPG5 Zornitza Stark Classified gene: EPG5 as Red List (low evidence)
Cerebral Palsy v1.277 EPG5 Zornitza Stark Gene: epg5 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.276 ERCC8 Zornitza Stark Publications for gene: ERCC8 were set to 33528536; 30279719
Cerebral Palsy v1.275 ERCC8 Clare van Eyk reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Cockayne syndrome MIM#216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.275 EPG5 Clare van Eyk gene: EPG5 was added
gene: EPG5 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to PMID: 38693247
Phenotypes for gene: EPG5 were set to Vici syndrome, MIM#242840
Review for gene: EPG5 was set to RED
Added comment: 1 individual reported with a homozygous stopgain variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Vici syndrome is a neurodevelopmental and immunological disorder affecting multiple systems. Structural abnormalities of the brain along with profound psychomotor retardation have been reported.
Sources: Literature
Cerebral Palsy v1.275 DUOX2 Clare van Eyk gene: DUOX2 was added
gene: DUOX2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DUOX2 were set to PMID: 38693247
Phenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis 6, MIM#607200
Review for gene: DUOX2 was set to RED
Added comment: 1 individual reported with biallelic variants (1 missense, 1 stopgain) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Congenital hypothyroidism is associated with increased risk of cerebral palsy if untreated, amongst other developmental sequelae.
Sources: Literature
Deafness_IsolatedAndComplex v1.183 LMNA Rylee Peters gene: LMNA was added
gene: LMNA was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNA were set to PMID: 32913962
Phenotypes for gene: LMNA were set to Laminopathy (MONDO#0021106), LMNA-related
Review for gene: LMNA was set to GREEN
Added comment: PMID: 32913962; Total of 13 individuals heterozygous for the R349W variant. Recurrent phenotypes in these individuals include partial lipodystrophy, proteinuric nephropathy, cardiopathies and sensorineural hearing impairment.
Hearing impairment was identified in 66% of the patients (6/9 individuals, 4 were not reported) and ranged from reduction or complete sensorineural deafness.
Sources: Literature
Cerebral Palsy v1.275 DIAPH1 Clare van Eyk gene: DIAPH1 was added
gene: DIAPH1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: DIAPH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DIAPH1 were set to PMID: 38693247; 34125151
Phenotypes for gene: DIAPH1 were set to Seizures, cortical blindness, and microcephaly syndrome, MIM#616632
Review for gene: DIAPH1 was set to AMBER
Added comment: 1 individual reported with biallelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.

De novo and rare, transmitted damaging variants in DIAPH1 have been reported as a risk factor for Moyamoya disease resulting in ischemic stroke, however CP was not reported as a sequelae in this case series (PMID:34125151).
Sources: Literature
Cerebral Palsy v1.275 DHCR7 Clare van Eyk gene: DHCR7 was added
gene: DHCR7 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to PMID: 38693247
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, MIM#270400
Review for gene: DHCR7 was set to RED
Added comment: 1 individual reported with biallelic P/LP variants (1 missense, 1 frameshift) in a large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Hypotonia in infancy followed by later hypertonia are described, usually presenting with multiple congenital anomalies.
Sources: Literature
Cerebral Palsy v1.275 DDX59 Clare van Eyk edited their review of gene: DDX59: Changed rating: RED
Cerebral Palsy v1.275 DDX59 Clare van Eyk gene: DDX59 was added
gene: DDX59 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDX59 were set to PMID: 38693247
Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, MIM#174300
Added comment: 1 individual reported with biallelic variants (1 missense, 1 frameshift) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. OFD5 has not been previously associated with CP, however white matter abnormalities on MRI have been reported.
Sources: Literature
Vitamin metabolism disorders v1.6 MCEE Bryony Thompson changed review comment from: Involved in the metabolism of cobalamin (vitamin B12). Serum B12 levels are measures as part of the diagnosis of this condition.
Sources: Expert list; to: It is not directly involved in cobalamin (vitamin B12) metabolism, but serum B12 levels are measured in diagnosing this condition. Included as a differential diagnosis.
Sources: Expert list
Vitamin metabolism disorders v1.6 MUT Bryony Thompson changed review comment from: Involved in cobalamin (vitamin B12) metabolism. Serum B12 levels are measured in the diagnosis of this condition.
Sources: Expert list; to: It is not directly involved in cobalamin (vitamin B12) metabolism, but serum B12 levels are measured in diagnosing this condition. Included as a differential diagnosis.
Sources: Expert list
Aminoacidopathy v1.61 KYNU Zornitza Stark Marked gene: KYNU as ready
Aminoacidopathy v1.61 KYNU Zornitza Stark Gene: kynu has been classified as Green List (High Evidence).
Aminoacidopathy v1.61 KYNU Zornitza Stark Classified gene: KYNU as Green List (high evidence)
Aminoacidopathy v1.61 KYNU Zornitza Stark Gene: kynu has been classified as Green List (High Evidence).
Aminoacidopathy v1.60 LMBRD1 Zornitza Stark Marked gene: LMBRD1 as ready
Aminoacidopathy v1.60 LMBRD1 Zornitza Stark Gene: lmbrd1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.60 LMBRD1 Zornitza Stark Classified gene: LMBRD1 as Green List (high evidence)
Aminoacidopathy v1.60 LMBRD1 Zornitza Stark Gene: lmbrd1 has been classified as Green List (High Evidence).
Vitamin metabolism disorders v1.6 MCEE Bryony Thompson Classified gene: MCEE as Green List (high evidence)
Vitamin metabolism disorders v1.6 MCEE Bryony Thompson Gene: mcee has been classified as Green List (High Evidence).
Vitamin metabolism disorders v1.5 MCEE Bryony Thompson gene: MCEE was added
gene: MCEE was added to Vitamin metabolism disorders. Sources: Expert list
Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCEE were set to 20301409
Phenotypes for gene: MCEE were set to methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615
Review for gene: MCEE was set to GREEN
gene: MCEE was marked as current diagnostic
Added comment: Involved in the metabolism of cobalamin (vitamin B12). Serum B12 levels are measures as part of the diagnosis of this condition.
Sources: Expert list
Vitamin metabolism disorders v1.4 MUT Bryony Thompson Marked gene: MUT as ready
Vitamin metabolism disorders v1.4 MUT Bryony Thompson Gene: mut has been classified as Green List (High Evidence).
Vitamin metabolism disorders v1.4 MUT Bryony Thompson Classified gene: MUT as Green List (high evidence)
Vitamin metabolism disorders v1.4 MUT Bryony Thompson Gene: mut has been classified as Green List (High Evidence).
Vitamin metabolism disorders v1.3 MUT Bryony Thompson gene: MUT was added
gene: MUT was added to Vitamin metabolism disorders. Sources: Expert list
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MUT were set to 20301409
Phenotypes for gene: MUT were set to methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612
Review for gene: MUT was set to GREEN
gene: MUT was marked as current diagnostic
Added comment: Involved in cobalamin (vitamin B12) metabolism. Serum B12 levels are measured in the diagnosis of this condition.
Sources: Expert list
Aminoacidopathy v1.59 LMBRD1 Sangavi Sivagnanasundram gene: LMBRD1 was added
gene: LMBRD1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMBRD1 were set to 20301503; 19136951; 32875039; 20127417; 21303734
Phenotypes for gene: LMBRD1 were set to methylmalonic aciduria and homocystinuria type cblF MONDO:0010183
Review for gene: LMBRD1 was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 26/03/2021 - https://search.clinicalgenome.org/CCID:005290

Reported in multiple individuals with evidence of defective cobalamin metabolism.
Mechanism of disease appears to be loss of function leading to a defective release of cobalamin from lysosomes.
Sources: ClinGen
Aminoacidopathy v1.59 KYNU Sangavi Sivagnanasundram edited their review of gene: KYNU: Changed publications: 37499065, 28792876, 33942433, 31923704, 17334708, 34200361
Aminoacidopathy v1.59 KYNU Sangavi Sivagnanasundram gene: KYNU was added
gene: KYNU was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KYNU were set to 37499065, 28792876, 33942433, 31923704, 17334708, 34200361
Phenotypes for gene: KYNU were set to vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0060555
Review for gene: KYNU was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 12/05/2023 - https://search.clinicalgenome.org/CCID:005259

Reported in >5 unrelated probands with an error in synthesis of NAD from tryptophan. Mouse model recapitulates human phenotype while on a NAD-restricted diet.
Sources: ClinGen
Aminoacidopathy v1.59 KMO Sangavi Sivagnanasundram gene: KMO was added
gene: KMO was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: KMO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KMO were set to 28187857, 24189070
Phenotypes for gene: KMO were set to pellagra MONDO:0019975
Review for gene: KMO was set to RED
Added comment: Classified as no known disease relationship by ClinGen Aminoacidopathy GCEP on 12/05/2023 - https://search.clinicalgenome.org/CCID:005248

Only two knock out mouse models have ben reported that exhibited behavioural changes including memory impairment and anxiety like behaviour. Not reported as disease causing in any affected individuals at this stage and no evidence of any inborn errors of amino acid metabolism.
Sources: ClinGen
Aminoacidopathy v1.59 HYKK Sangavi Sivagnanasundram gene: HYKK was added
gene: HYKK was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: HYKK was set to Unknown
Publications for gene: HYKK were set to 23242558
Phenotypes for gene: HYKK were set to inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351
Review for gene: HYKK was set to RED
Added comment: No known gene-disease association as classified by ClinGen Aminoacidopathy GCEP on 14/07/2023 - https://search.clinicalgenome.org/CCID:005104

HYKK has been reported as a disorders of lysine, hydroxylysine, and tryptophan metabolism by ICIMD however there are no reported pathogenic variants in this gene to support the gene-disease association.
Sources: ClinGen
Aminoacidopathy v1.59 HPD Sangavi Sivagnanasundram gene: HPD was added
gene: HPD was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HPD were set to 10942115, 11073718, 28649543, 11073718, 31342835
Phenotypes for gene: HPD were set to tyrosinemia type III MONDO:0010162; hawkinsinuria MONDO:0007700
Review for gene: HPD was set to GREEN
Added comment: Tyrosinemia type III - AR and Hawkinsinuria - AD

ClinGen classified limited evidence for the AD gene-disease association on 17/11/2023 and definitive for AR gene-disease association on 29/06/2020.

Established gene-disease association. Reported individuals reported with inborn errors of amino acid metabolism.
Sources: ClinGen
Aminoacidopathy v1.59 HIBADH Sangavi Sivagnanasundram gene: HIBADH was added
gene: HIBADH was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: HIBADH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIBADH were set to 34176136; 35174513
Phenotypes for gene: HIBADH were set to 3-hydroxyisobutyric aciduria MONDO:0009371
Review for gene: HIBADH was set to RED
Added comment: Classified Limited by ClinGen Aminoacidopathy GCEP on 24/03/2023 - https://search.clinicalgenome.org/CCID:005058

Reported in 3 probands however there is lack of clinical evidence to show that hydroxyisobutyrate dehydrogenase deficiency leads to their clinical phenotype.
Sources: ClinGen
Aminoacidopathy v1.59 HGD Sangavi Sivagnanasundram gene: HGD was added
gene: HGD was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HGD were set to 8782815; 9529363; 9154114; 9674916
Phenotypes for gene: HGD were set to alkaptonuria MONDO:0008753
Review for gene: HGD was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:005055

Well established gene-disease association with reported individuals showing evidence of abnormal biochemical function.
Sources: ClinGen
Hydrops fetalis v0.313 RAPSN Zornitza Stark Publications for gene: RAPSN were set to 18252226
Hydrops fetalis v0.312 RAPSN Zornitza Stark Classified gene: RAPSN as Green List (high evidence)
Hydrops fetalis v0.312 RAPSN Zornitza Stark Gene: rapsn has been classified as Green List (High Evidence).
Aminoacidopathy v1.59 HAL Zornitza Stark Marked gene: HAL as ready
Aminoacidopathy v1.59 HAL Zornitza Stark Gene: hal has been classified as Red List (Low Evidence).
Aminoacidopathy v1.59 HAL Zornitza Stark Classified gene: HAL as Red List (low evidence)
Aminoacidopathy v1.59 HAL Zornitza Stark Gene: hal has been classified as Red List (Low Evidence).
Aminoacidopathy v1.58 HAAO Zornitza Stark Marked gene: HAAO as ready
Aminoacidopathy v1.58 HAAO Zornitza Stark Gene: haao has been classified as Green List (High Evidence).
Aminoacidopathy v1.58 HAAO Zornitza Stark Classified gene: HAAO as Green List (high evidence)
Aminoacidopathy v1.58 HAAO Zornitza Stark Gene: haao has been classified as Green List (High Evidence).
Aminoacidopathy v1.57 GSTZ1 Zornitza Stark Marked gene: GSTZ1 as ready
Aminoacidopathy v1.57 GSTZ1 Zornitza Stark Gene: gstz1 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.57 GSTZ1 Zornitza Stark Classified gene: GSTZ1 as Red List (low evidence)
Aminoacidopathy v1.57 GSTZ1 Zornitza Stark Gene: gstz1 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.56 GSS Zornitza Stark Marked gene: GSS as ready
Aminoacidopathy v1.56 GSS Zornitza Stark Gene: gss has been classified as Green List (High Evidence).
Aminoacidopathy v1.56 GSS Zornitza Stark Classified gene: GSS as Green List (high evidence)
Aminoacidopathy v1.56 GSS Zornitza Stark Gene: gss has been classified as Green List (High Evidence).
Aminoacidopathy v1.55 GNMT Zornitza Stark Marked gene: GNMT as ready
Aminoacidopathy v1.55 GNMT Zornitza Stark Gene: gnmt has been classified as Red List (Low Evidence).
Aminoacidopathy v1.55 GNMT Zornitza Stark Classified gene: GNMT as Red List (low evidence)
Aminoacidopathy v1.55 GNMT Zornitza Stark Gene: gnmt has been classified as Red List (Low Evidence).
Aminoacidopathy v1.54 GLUL Zornitza Stark Marked gene: GLUL as ready
Aminoacidopathy v1.54 GLUL Zornitza Stark Gene: glul has been classified as Green List (High Evidence).
Aminoacidopathy v1.54 GLUL Zornitza Stark Classified gene: GLUL as Green List (high evidence)
Aminoacidopathy v1.54 GLUL Zornitza Stark Gene: glul has been classified as Green List (High Evidence).
Aminoacidopathy v1.53 GLUD1 Zornitza Stark Marked gene: GLUD1 as ready
Aminoacidopathy v1.53 GLUD1 Zornitza Stark Gene: glud1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.53 GLUD1 Zornitza Stark Classified gene: GLUD1 as Green List (high evidence)
Aminoacidopathy v1.53 GLUD1 Zornitza Stark Gene: glud1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.52 GLS Zornitza Stark Marked gene: GLS as ready
Aminoacidopathy v1.52 GLS Zornitza Stark Gene: gls has been classified as Green List (High Evidence).
Aminoacidopathy v1.52 GLS Zornitza Stark Classified gene: GLS as Green List (high evidence)
Aminoacidopathy v1.52 GLS Zornitza Stark Gene: gls has been classified as Green List (High Evidence).
Aminoacidopathy v1.51 GLDC Zornitza Stark Marked gene: GLDC as ready
Aminoacidopathy v1.51 GLDC Zornitza Stark Gene: gldc has been classified as Green List (High Evidence).
Aminoacidopathy v1.51 GLDC Zornitza Stark Classified gene: GLDC as Green List (high evidence)
Aminoacidopathy v1.51 GLDC Zornitza Stark Gene: gldc has been classified as Green List (High Evidence).
Aminoacidopathy v1.50 GCSH Zornitza Stark Marked gene: GCSH as ready
Aminoacidopathy v1.50 GCSH Zornitza Stark Gene: gcsh has been classified as Green List (High Evidence).
Aminoacidopathy v1.50 GCSH Zornitza Stark Classified gene: GCSH as Green List (high evidence)
Aminoacidopathy v1.50 GCSH Zornitza Stark Gene: gcsh has been classified as Green List (High Evidence).
Aminoacidopathy v1.49 GCH1 Zornitza Stark Marked gene: GCH1 as ready
Aminoacidopathy v1.49 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.49 GCH1 Zornitza Stark Classified gene: GCH1 as Green List (high evidence)
Aminoacidopathy v1.49 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.48 GCDH Zornitza Stark Marked gene: GCDH as ready
Aminoacidopathy v1.48 GCDH Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
Aminoacidopathy v1.48 GCDH Zornitza Stark Classified gene: GCDH as Green List (high evidence)
Aminoacidopathy v1.48 GCDH Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
Skeletal dysplasia v0.281 FUZ Zornitza Stark Marked gene: FUZ as ready
Skeletal dysplasia v0.281 FUZ Zornitza Stark Gene: fuz has been classified as Green List (High Evidence).
Fetal anomalies v1.249 FUZ Zornitza Stark Phenotypes for gene: FUZ were changed from Neural tube defects 182940 to Neural tube defects 182940; Ciliopathy_MONDO_0005308, FUZ-related; skeletal ciliopathy
Fetal anomalies v1.248 FUZ Zornitza Stark Publications for gene: FUZ were set to 21840926
Fetal anomalies v1.247 FUZ Zornitza Stark Mode of inheritance for gene: FUZ was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.281 FUZ Zornitza Stark Phenotypes for gene: FUZ were changed from Ciliopathy_MONDO_0005308; skeletal ciliopathy to Ciliopathy_MONDO_0005308, FUZ-related; skeletal ciliopathy
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v1.15 FUZ Zornitza Stark Marked gene: FUZ as ready
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v1.15 FUZ Zornitza Stark Gene: fuz has been classified as Green List (High Evidence).
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v1.15 FUZ Zornitza Stark Phenotypes for gene: FUZ were changed from Ciliopathy_MONDO_0005308; skeletal ciliopathy to Ciliopathy_MONDO_0005308, FUZ-related; skeletal ciliopathy
Mendeliome v1.1835 FUZ Zornitza Stark Phenotypes for gene: FUZ were changed from {Neural tube defects, susceptibility to} MIM#182940; craniosynostosis, FUZ-related MONDO#0015469 to {Neural tube defects, susceptibility to} MIM#182940; craniosynostosis, FUZ-related MONDO#0015469; Ciliopathy_MONDO_0005308, FUZ-related; skeletal ciliopathy
Mendeliome v1.1834 FUZ Zornitza Stark Publications for gene: FUZ were set to 21840926
Ciliopathies v1.54 FUZ Zornitza Stark Marked gene: FUZ as ready
Ciliopathies v1.54 FUZ Zornitza Stark Gene: fuz has been classified as Green List (High Evidence).
Ciliopathies v1.54 FUZ Zornitza Stark Phenotypes for gene: FUZ were changed from Ciliopathy_MONDO_0005308; skeletal ciliopathy to Ciliopathy_MONDO_0005308, FUZ-related; skeletal ciliopathy
Skeletal Dysplasia_Fetal v0.223 FUZ Zornitza Stark Phenotypes for gene: FUZ were changed from Ciliopathy_MONDO_0005308; skeletal ciliopathy to Ciliopathy_MONDO_0005308, FUZ-related; skeletal ciliopathy
Intellectual disability syndromic and non-syndromic v0.6037 ATXN7L3 Zornitza Stark Marked gene: ATXN7L3 as ready
Intellectual disability syndromic and non-syndromic v0.6037 ATXN7L3 Zornitza Stark Gene: atxn7l3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6037 ATXN7L3 Zornitza Stark Phenotypes for gene: ATXN7L3 were changed from Neurodevelopmental disorder, MONDO_0100500 to Neurodevelopmental disorder, MONDO_0100500, ATXN7L3-related
Mendeliome v1.1833 ATXN7L3 Zornitza Stark Marked gene: ATXN7L3 as ready
Mendeliome v1.1833 ATXN7L3 Zornitza Stark Gene: atxn7l3 has been classified as Green List (High Evidence).
Mendeliome v1.1833 ATXN7L3 Zornitza Stark Phenotypes for gene: ATXN7L3 were changed from Neurodevelopmental disorder, MONDO_0100500 to Neurodevelopmental disorder, MONDO_0100500, ATXN7L3-related
Mendeliome v1.1832 STK33 Zornitza Stark Marked gene: STK33 as ready
Mendeliome v1.1832 STK33 Zornitza Stark Gene: stk33 has been classified as Red List (Low Evidence).
Mendeliome v1.1832 STK33 Zornitza Stark gene: STK33 was added
gene: STK33 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: STK33 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STK33 were set to 34155512; 29155043
Phenotypes for gene: STK33 were set to Spermatogenic failure 93, MIM#620849
Review for gene: STK33 was set to RED
Added comment: Four brothers with a homozygous variant and an animal model.
Sources: Literature
Mendeliome v1.1831 NAT6 Zornitza Stark Marked gene: NAT6 as ready
Mendeliome v1.1831 NAT6 Zornitza Stark Gene: nat6 has been classified as Red List (Low Evidence).
Mendeliome v1.1831 NAT6 Zornitza Stark gene: NAT6 was added
gene: NAT6 was added to Mendeliome. Sources: Literature
new gene name tags were added to gene: NAT6.
Mode of inheritance for gene: NAT6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAT6 were set to 34805998
Phenotypes for gene: NAT6 were set to Auroneurodental syndrome, MIM# 620830
Review for gene: NAT6 was set to RED
Added comment: Case report of two brothers with homozygous missense variant and deafness, periodic hypotonia and dental anomalies.

HGNC approved name is NAA80.
Sources: Literature
Deafness_IsolatedAndComplex v1.183 NAT6 Zornitza Stark changed review comment from: Case report of two brothers with homozygous missense variant and deafness, periodic hypotonia and dental anomalies.
Sources: Literature; to: Case report of two brothers with homozygous missense variant and deafness, periodic hypotonia and dental anomalies.

HGNC approved name is NAA80.

Sources: Literature
Deafness_IsolatedAndComplex v1.183 NAT6 Zornitza Stark Marked gene: NAT6 as ready
Deafness_IsolatedAndComplex v1.183 NAT6 Zornitza Stark Gene: nat6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.183 NAT6 Zornitza Stark gene: NAT6 was added
gene: NAT6 was added to Deafness_IsolatedAndComplex. Sources: Literature
new gene name tags were added to gene: NAT6.
Mode of inheritance for gene: NAT6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAT6 were set to 34805998
Phenotypes for gene: NAT6 were set to Auroneurodental syndrome, MIM# 620830
Review for gene: NAT6 was set to RED
Added comment: Case report of two brothers with homozygous missense variant and deafness, periodic hypotonia and dental anomalies.
Sources: Literature
Aminoacidopathy v1.47 HAL Sangavi Sivagnanasundram gene: HAL was added
gene: HAL was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: HAL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAL were set to 15806399
Phenotypes for gene: HAL were set to histidinemia MONDO:0009345
Review for gene: HAL was set to RED
Added comment: Classified Limited by ClinGen Aminoacidopathy GCEP on 17/11/2023 - https://search.clinicalgenome.org/CCID:005031

Metabolic disorder appears to be benign in most reported affected individuals.
Sources: ClinGen
Aminoacidopathy v1.47 HAAO Sangavi Sivagnanasundram gene: HAAO was added
gene: HAAO was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 37499065; 28792876; 33942433
Phenotypes for gene: HAAO were set to vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:0060554
Review for gene: HAAO was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 24/06/2022 - https://search.clinicalgenome.org/CCID:005026

Reported in >3 unrelated probands with biochemical abnormalities. LoF appears to be the mechanism of disease.
Sources: ClinGen
Aminoacidopathy v1.47 GSTZ1 Sangavi Sivagnanasundram gene: GSTZ1 was added
gene: GSTZ1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: GSTZ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSTZ1 were set to 27876694
Phenotypes for gene: GSTZ1 were set to maleylacetoacetate isomerase deficiency MONDO:0060527
Review for gene: GSTZ1 was set to RED
Added comment: Classified Moderate by ClinGen Aminoacidopathy GCEP on 09/09/2022 -https://search.clinicalgenome.org/CCID:005017

6 probands have been reported with mild hypersuccinylacetonaemia (MHSA). The reported individuals remained well without receiving any treatment or change in diet.
Sources: ClinGen
Intellectual disability syndromic and non-syndromic v0.6036 PTEN Ain Roesley Phenotypes for gene: PTEN were changed from Cowden syndrome 1 MIM#158350; Macrocephaly/autism syndrome MIM#605309 to Cowden syndrome 1 MIM#158350; Macrocephaly/autism syndrome MIM#605309; PTEN hamartoma tumor syndrome MONDO:0017623
Overgrowth v1.12 PTEN Ain Roesley Phenotypes for gene: PTEN were changed from Cowden syndrome 1, MIM# 158350; Macrocephaly/autism syndrome, MIM# 605309 to Cowden syndrome 1, MIM# 158350; Macrocephaly/autism syndrome, MIM# 605309; PTEN hamartoma tumor syndrome MONDO:0017623
Aminoacidopathy v1.47 GSS Sangavi Sivagnanasundram gene: GSS was added
gene: GSS was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSS were set to 17397529
Phenotypes for gene: GSS were set to inherited glutathione synthetase deficiency MONDO:0017909
Review for gene: GSS was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 26/04/2019 -https://search.clinicalgenome.org/CCID:005016

Well established gene-disease association with reported individuals having errors in glutathione metabolism.
Sources: ClinGen
Aminoacidopathy v1.47 GNMT Sangavi Sivagnanasundram gene: GNMT was added
gene: GNMT was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: GNMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNMT were set to 11810299; 14739680
Phenotypes for gene: GNMT were set to glycine N-methyltransferase deficiency MONDO:0011698
Review for gene: GNMT was set to RED
Added comment: Classified Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022 -https://search.clinicalgenome.org/CCID:004979
Sources: ClinGen
Aminoacidopathy v1.47 GLUL Sangavi Sivagnanasundram gene: GLUL was added
gene: GLUL was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLUL were set to 25870278; 20140959; 30053506
Phenotypes for gene: GLUL were set to congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0012393
Review for gene: GLUL was set to GREEN
Added comment: Classified Moderate by ClinGen Aminoacidopathy GCEP on 12/12/2022 - https://search.clinicalgenome.org/CCID:004969

At least 5 probands from 4 unrelated families reported with glutamine deficiency.
Sources: ClinGen
Aminoacidopathy v1.47 GLUD1 Sangavi Sivagnanasundram gene: GLUD1 was added
gene: GLUD1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GLUD1 were set to 9571255; 11214910; 26759084
Phenotypes for gene: GLUD1 were set to hyperinsulinism-hyperammonemia syndrome MONDO:0011717
Review for gene: GLUD1 was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 13/11/2020 - https://search.clinicalgenome.org/CCID:004968

Well-established gene disease association with reported individuals having a metabolic abnormality.
Sources: ClinGen
Mendeliome v1.1830 FAM177A1 Zornitza Stark Marked gene: FAM177A1 as ready
Mendeliome v1.1830 FAM177A1 Zornitza Stark Gene: fam177a1 has been classified as Green List (High Evidence).
Mendeliome v1.1830 FAM177A1 Zornitza Stark Phenotypes for gene: FAM177A1 were changed from Neurodevelopmental disorder, MONDO_0100500 to Neurodevelopmental disorder, MONDO_0100500, FAM177A1-related
Intellectual disability syndromic and non-syndromic v0.6035 FAM177A1 Zornitza Stark Marked gene: FAM177A1 as ready
Intellectual disability syndromic and non-syndromic v0.6035 FAM177A1 Zornitza Stark Gene: fam177a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6035 FAM177A1 Zornitza Stark Phenotypes for gene: FAM177A1 were changed from Neurodevelopmental disorder, MONDO_0100500 to Neurodevelopmental disorder, MONDO_0100500, FAM177a1-related
Skeletal dysplasia v0.280 PISD Zornitza Stark Phenotypes for gene: PISD were changed from Liberfarb syndrome MIM# 618889; Spondylometaphyseal dysplasia with large epiphyses to Liberfarb syndrome MIM# 618889; Spondylometaphyseal dysplasia with large epiphyses, MONDO:0100510
Skeletal dysplasia v0.279 PISD Zornitza Stark Phenotypes for gene: PISD were changed from Spondylometaphyseal dysplasia with large epiphyses to Liberfarb syndrome MIM# 618889; Spondylometaphyseal dysplasia with large epiphyses
Skeletal dysplasia v0.278 PISD Zornitza Stark Classified gene: PISD as Green List (high evidence)
Skeletal dysplasia v0.278 PISD Zornitza Stark Gene: pisd has been classified as Green List (High Evidence).
Mendeliome v1.1829 ERF Zornitza Stark Phenotypes for gene: ERF were changed from Craniosynostosis 4, MIM# 600775; Chitayat syndrome, MIM# 617180 to Craniosynostosis 4, MIM# 600775; Chitayat syndrome, MIM# 617180; Noonan syndrome-like, MONDO:0018997, with or without craniosynostosis, ERF-related
Mendeliome v1.1828 ERF Zornitza Stark edited their review of gene: ERF: Changed phenotypes: Craniosynostosis 4, MIM# 600775, Chitayat syndrome, MIM# 617180, Noonan syndrome-like, MONDO:0018997, with or without craniosynostosis, ERF-related
Rasopathy v0.105 ERF Zornitza Stark Marked gene: ERF as ready
Rasopathy v0.105 ERF Zornitza Stark Gene: erf has been classified as Green List (High Evidence).
Rasopathy v0.105 ERF Zornitza Stark Phenotypes for gene: ERF were changed from Noonan syndrome-like with or without craniosynostosis to Noonan syndrome-like, MONDO:0018997, with or without craniosynostosis, ERF-related
Rasopathy v0.104 ERF Zornitza Stark reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome-like, MONDO:0018997, with or without craniosynostosis, ERF-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.26 ANO4 Zornitza Stark Marked gene: ANO4 as ready
Genetic Epilepsy v1.26 ANO4 Zornitza Stark Gene: ano4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.26 ANO4 Zornitza Stark Classified gene: ANO4 as Green List (high evidence)
Genetic Epilepsy v1.26 ANO4 Zornitza Stark Gene: ano4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6034 SLC6A1 Zornitza Stark Publications for gene: SLC6A1 were set to 29315614
Intellectual disability syndromic and non-syndromic v0.6033 SLC6A1 Zornitza Stark edited their review of gene: SLC6A1: Added comment: Haploinsufficiency established as the mechanism.; Changed publications: 29315614, 38781976
Intellectual disability syndromic and non-syndromic v0.6033 MSL2 Zornitza Stark Phenotypes for gene: MSL2 were changed from Developmental disorders; autism to Neurodevelopmental disorder, MONDO:0700092, MSL2-related
Mendeliome v1.1828 MSL2 Zornitza Stark Phenotypes for gene: MSL2 were changed from Developmental disorders; autism to Neurodevelopmental disorder, MONDO:0700092, MSL2-related
Mendeliome v1.1827 MSL2 Zornitza Stark Publications for gene: MSL2 were set to 31332282; 33057194
Mendeliome v1.1826 MSL2 Zornitza Stark Classified gene: MSL2 as Green List (high evidence)
Mendeliome v1.1826 MSL2 Zornitza Stark Gene: msl2 has been classified as Green List (High Evidence).
Mendeliome v1.1825 HGF Zornitza Stark Phenotypes for gene: HGF were changed from Deafness, autosomal recessive 39, MIM# 608265 to Deafness, autosomal recessive 39, MIM# 608265; Lymphoedema, MONDO:0019297, HGF-related
Mendeliome v1.1824 HGF Zornitza Stark Publications for gene: HGF were set to 19576567
Mendeliome v1.1823 HGF Zornitza Stark Mode of inheritance for gene: HGF was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.1822 HGF Zornitza Stark edited their review of gene: HGF: Added comment: More than 10 families reported with childhood- to late-onset lymphoedema.; Changed publications: 19576567, 38676400, 38791500; Changed phenotypes: Deafness, autosomal recessive 39, MIM# 608265, Lymphoedema, MONDO:0019297, HGF-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lymphoedema_nonsyndromic v0.39 HGF Zornitza Stark Marked gene: HGF as ready
Lymphoedema_nonsyndromic v0.39 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Lymphoedema_nonsyndromic v0.39 HGF Zornitza Stark Classified gene: HGF as Green List (high evidence)
Lymphoedema_nonsyndromic v0.39 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Lymphoedema_nonsyndromic v0.38 HGF Zornitza Stark gene: HGF was added
gene: HGF was added to Lymphoedema_nonsyndromic. Sources: Literature
Mode of inheritance for gene: HGF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HGF were set to 38676400; 38791500
Phenotypes for gene: HGF were set to Lymphoedema, MONDO:0019297, HGF-related
Review for gene: HGF was set to GREEN
Added comment: More than 10 families reported with childhood- to late-onset lymphoedema.
Sources: Literature
Mendeliome v1.1822 TKFC Zornitza Stark Phenotypes for gene: TKFC were changed from Triokinase and FMN cyclase deficiency syndrome, MIM#618805; Developmental delay; cataracts; liver dysfunction to Triokinase and FMN cyclase deficiency syndrome, MIM#618805; Inborn error of immunity, MONDO:0003778, TKFC-related
Mendeliome v1.1821 TKFC Zornitza Stark edited their review of gene: TKFC: Added comment: Single individual reported with homozygous variant and isolated immunodeficiency.; Changed publications: 32004446'38697782; Changed phenotypes: Triokinase and FMN cyclase deficiency syndrome, MIM#618805, Inborn error of immunity, MONDO:0003778, TKFC-related
Combined Immunodeficiency v1.66 TKFC Zornitza Stark changed review comment from: Single individual reported with homozygous variant.
Sources: Literature; to: Single individual reported with homozygous variant.

Note relationship with syndromic ID also postulated.
Sources: Literature
Combined Immunodeficiency v1.66 TKFC Zornitza Stark Marked gene: TKFC as ready
Combined Immunodeficiency v1.66 TKFC Zornitza Stark Gene: tkfc has been classified as Red List (Low Evidence).
Combined Immunodeficiency v1.66 TKFC Zornitza Stark gene: TKFC was added
gene: TKFC was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKFC were set to 38697782
Phenotypes for gene: TKFC were set to Inborn error of immunity, MONDO:0003778, TKFC-related
Review for gene: TKFC was set to RED
Added comment: Single individual reported with homozygous variant.
Sources: Literature
Mendeliome v1.1821 CYLC1 Zornitza Stark Marked gene: CYLC1 as ready
Mendeliome v1.1821 CYLC1 Zornitza Stark Gene: cylc1 has been classified as Green List (High Evidence).
Mendeliome v1.1821 CYLC1 Zornitza Stark Classified gene: CYLC1 as Green List (high evidence)
Mendeliome v1.1821 CYLC1 Zornitza Stark Gene: cylc1 has been classified as Green List (High Evidence).
Mendeliome v1.1820 CYLC1 Zornitza Stark gene: CYLC1 was added
gene: CYLC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CYLC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CYLC1 were set to Spermatogenic failure, X-linked, 8, MIM# 301119
Review for gene: CYLC1 was set to GREEN
Added comment: 19 individuals and a mouse model reported.
Sources: Literature
Aminoacidopathy v1.47 GLS Sangavi Sivagnanasundram gene: GLS was added
gene: GLS was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLS were set to 29468182, 30575854, 30970188; 16641247
Phenotypes for gene: GLS were set to glutaminase deficiency MONDO:0600001
Review for gene: GLS was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 09/07/2021 - https://search.clinicalgenome.org/CCID:004965

6 probands have been reported with glutaminase deficiency. Nonsense, framshift and missense variants have been reported. 5’UTR repeat expansion (680-1500 repeats; normal range 8-16 repeats) has also been reported.
Mouse model was also conducted that recapitulates the human phenotype (PMID: 16641247).
Sources: ClinGen
Aminoacidopathy v1.47 GLDC Sangavi Sivagnanasundram gene: GLDC was added
gene: GLDC was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLDC were set to 25736695; 27362913; 26179960; 24407464
Phenotypes for gene: GLDC were set to glycine encephalopathy MONDO:0011612
Review for gene: GLDC was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 06/02/2019 - https://search.clinicalgenome.org/CCID:004962

Well reported gene-disease association with reported individuals present with glycine encephalopathy.
Sources: ClinGen
Skeletal Dysplasia_Fetal v0.222 FUZ Zornitza Stark Marked gene: FUZ as ready
Skeletal Dysplasia_Fetal v0.222 FUZ Zornitza Stark Gene: fuz has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.222 FUZ Zornitza Stark Classified gene: FUZ as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.222 FUZ Zornitza Stark Gene: fuz has been classified as Green List (High Evidence).
Bone Marrow Failure v1.92 FLT3LG Ain Roesley Marked gene: FLT3LG as ready
Bone Marrow Failure v1.92 FLT3LG Ain Roesley Gene: flt3lg has been classified as Red List (Low Evidence).
Mendeliome v1.1819 FLT3LG Ain Roesley Marked gene: FLT3LG as ready
Mendeliome v1.1819 FLT3LG Ain Roesley Gene: flt3lg has been classified as Red List (Low Evidence).
Bone Marrow Failure v1.92 FLT3LG Ain Roesley gene: FLT3LG was added
gene: FLT3LG was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: FLT3LG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLT3LG were set to 38701783
Phenotypes for gene: FLT3LG were set to Increased susceptibility to infections
Review for gene: FLT3LG was set to RED
gene: FLT3LG was marked as current diagnostic
Added comment: 3x sibs from a consanguineous family with a homozygous frameshift variant p.(Ser118Alafs*23)
recurrent infections and hypoplastic bone marrow with marked reduction in HPSCs
KO mice recapitulated BM findings

over a period of 5 (P1), 9 (P2), and 19 (P3) years of follow-up, all 3 were found to have moderate anaemia.
Total platelet counts and morphology decreased in 2 siblings.
Total WBC oscillated between low and normal
Eosinophils, basophils were in normal range
Neutrophils were in the lower part of the control range, ocassiannly lower
total lymphocyte counts were normal
Sources: Literature
Mendeliome v1.1819 FLT3LG Ain Roesley gene: FLT3LG was added
gene: FLT3LG was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FLT3LG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLT3LG were set to 38701783
Phenotypes for gene: FLT3LG were set to Increased susceptibility to infections
Review for gene: FLT3LG was set to RED
gene: FLT3LG was marked as current diagnostic
Added comment: 3x sibs from a consanguineous family with a homozygous frameshift variant p.(Ser118Alafs*23)
recurrent infections and hypoplastic bone marrow with marked reduction in HPSCs
KO mice recapitulated BM findings

over a period of 5 (P1), 9 (P2), and 19 (P3) years of follow-up, all 3 were found to have moderate anaemia.
Total platelet counts and morphology decreased in 2 siblings.
Total WBC oscillated between low and normal
Eosinophils, basophils were in normal range
Neutrophils were in the lower part of the control range, ocassiannly lower
total lymphocyte counts were normal
Sources: Literature
Lymphoedema_nonsyndromic v0.37 TIE1 Ain Roesley Publications for gene: TIE1 were set to 32947856; 24764452; 38820174
Lymphoedema_nonsyndromic v0.36 TIE1 Ain Roesley Publications for gene: TIE1 were set to 32947856; 24764452; 38820174
Lymphoedema_nonsyndromic v0.36 TIE1 Ain Roesley Publications for gene: TIE1 were set to 32947856; 24764452
Lymphoedema_nonsyndromic v0.36 TIE1 Ain Roesley Classified gene: TIE1 as Green List (high evidence)
Lymphoedema_nonsyndromic v0.36 TIE1 Ain Roesley Gene: tie1 has been classified as Green List (High Evidence).
Lymphoedema_nonsyndromic v0.35 TIE1 Ain Roesley edited their review of gene: TIE1: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lymphoedema_nonsyndromic v0.35 TIE1 Ain Roesley reviewed gene: TIE1: Rating: ; Mode of pathogenicity: None; Publications: 38820174; Phenotypes: Lymphatic malformation 11, MIM# 619401; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v1.1818 TIE1 Ain Roesley Classified gene: TIE1 as Green List (high evidence)
Mendeliome v1.1818 TIE1 Ain Roesley Gene: tie1 has been classified as Green List (High Evidence).
Mendeliome v1.1818 TIE1 Ain Roesley Publications for gene: TIE1 were set to 32947856; 24764452
Mendeliome v1.1817 TIE1 Ain Roesley reviewed gene: TIE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38820174; Phenotypes: Lymphatic malformation 11, MIM# 619401; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v1.1817 MSL2 Sangavi Sivagnanasundram reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38815585, 38702431; Phenotypes: MSL2-Related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6032 MSL2 Sangavi Sivagnanasundram reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38815585, 38702431; Phenotypes: MSL2-Related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1817 PISD Sangavi Sivagnanasundram reviewed gene: PISD: Rating: GREEN; Mode of pathogenicity: None; Publications: 38801004; Phenotypes: Liberfarb syndrome MONDO:0030045; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.277 PISD Sangavi Sivagnanasundram reviewed gene: PISD: Rating: GREEN; Mode of pathogenicity: None; Publications: 38801004; Phenotypes: Liberfarb syndrome MONDO:0030045; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1817 ATXN7L3 Chirag Patel Classified gene: ATXN7L3 as Green List (high evidence)
Mendeliome v1.1817 ATXN7L3 Chirag Patel Gene: atxn7l3 has been classified as Green List (High Evidence).
Mendeliome v1.1816 ATXN7L3 Chirag Patel gene: ATXN7L3 was added
gene: ATXN7L3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATXN7L3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATXN7L3 were set to PMID: 38753057
Phenotypes for gene: ATXN7L3 were set to Neurodevelopmental disorder, MONDO_0100500
Review for gene: ATXN7L3 was set to GREEN
gene: ATXN7L3 was marked as current diagnostic
Added comment: This study reports 9 unrelated individuals with de novo heterozygous variants in ATXN7L3 identified through WES testing and GeneMatcher. Core clinical features included: global motor and language developmental delay, hypotonia, and dysmorphic features (hypertelorism, epicanthal folds, blepharoptosis, small nose, small mouth, and low-set posteriorly rotated ears). Variable features included: feeding difficulties, seizures, mild periventricular leukomalacia, and structural cardiac abnormalities.

A recurrent nonsense variant [p.(Arg114Ter)] was found in 5/9 individuals. The other variants were 1 frameshift [p.(Ser112LysfsTer12)] and 3 missense variants [p.(Ile71Thr), p.(Ser92Arg), and p.(Leu106Pro)]. They investigated the effects of the recurrent nonsense variant [p.(Arg114Ter)] in fibroblasts of an affected individual. ATXN7L3 protein levels were reduced, and deubiquitylation was impaired (as indicated by an increase in histone H2Bub1 levels). This is consistent with the previous observation of increased H2Bub1 levels in Atxn7l3-null mouse embryos, which have developmental delay and embryonic lethality.

Pathogenic variants in deubiquitinating enzymes (DUBs) have been implicated in neurodevelopmental disorders (ND) and congenital abnormalities. ATXN7L3 is a component of the DUB module of the SAGA complex, and two other related DUB modules, and serves as an obligate adaptor protein of 3 ubiquitin-specific proteases (USP22, USP27X or USP51).
Sources: Literature
Mendeliome v1.1815 FAM177A1 Chirag Patel Classified gene: FAM177A1 as Green List (high evidence)
Mendeliome v1.1815 FAM177A1 Chirag Patel Gene: fam177a1 has been classified as Green List (High Evidence).
Mendeliome v1.1814 FAM177A1 Chirag Patel gene: FAM177A1 was added
gene: FAM177A1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FAM177A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM177A1 were set to PMID: 38767059, 25558065
Phenotypes for gene: FAM177A1 were set to Neurodevelopmental disorder, MONDO_0100500
Review for gene: FAM177A1 was set to GREEN
gene: FAM177A1 was marked as current diagnostic
Added comment: PMID: 38767059
5 individuals from 3 unrelated families reported with with biallelic loss of function variants in FAM177A1. Clinical features included: global developmental delay, intellectual disability, seizures, behavioural abnormalities, hypotonia, gait disturbance, and macrocephaly.

They showed that FAM177A1 localizes to the Golgi complex in mammalian and zebrafish cells. Intersection of the RNA-seq and metabolomic datasets from FAM177A1-deficient human fibroblasts and whole zebrafish larvae demonstrated dysregulation of pathways associated with apoptosis, inflammation, and negative regulation of cell proliferation.

PMID: 25558065
A study of 143 multiplex consanguineous families identified a homozygous frameshift variant in FAM177A1 in 1 family with 4 affected siblings with intellectual disability, dolicocephaly, obesity, and macrocephaly. The variant segregated with all 4 affected siblings and parents were confirmed heterozygous carriers.
Sources: Literature
Mendeliome v1.1813 ERF Chirag Patel reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38824261; Phenotypes: Noonan syndrome-like with or without craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v1.1813 SLC6A1 Sangavi Sivagnanasundram reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38781976; Phenotypes: myoclonic-atonic epilepsy MONDO:0014633; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.277 FUZ Chirag Patel Classified gene: FUZ as Green List (high evidence)
Skeletal dysplasia v0.277 FUZ Chirag Patel Gene: fuz has been classified as Green List (High Evidence).
Skeletal dysplasia v0.276 FUZ Chirag Patel Classified gene: FUZ as Green List (high evidence)
Skeletal dysplasia v0.276 FUZ Chirag Patel Gene: fuz has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.220 FUZ Chirag Patel gene: FUZ was added
gene: FUZ was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUZ were set to PMID: 38702430, 29068549, 34719684
Phenotypes for gene: FUZ were set to Ciliopathy_MONDO_0005308; skeletal ciliopathy
Review for gene: FUZ was set to GREEN
gene: FUZ was marked as current diagnostic
Added comment: FUZ is crucial for the transport of components to the primary cilium and potentially promotes protein complex assembly necessary for downstream cilium formation and function. Previous studies have shown complete knockout of Fuz in a mouse model leads to prenatal lethality, coronal craniosynostosis, micrognathia, facial malformations, eye, and heart defects. Suggested as a skeletal ciliopathy disorder gene.

PMID: 38702430
1 individual (from family with 2 affecteds) with orofaciodigital syndrome like phenotype (dysmorphism, bilateral foot preaxial polysyndactyly, right foot postaxial polysyndactyly, broad thumbs, bilateral 5th finger clinodactyly narrow chest, partial AVSD). They found a homozygous missense variant in FUZ [p.(Glu201Lys)]. Parents were heterozygous carriers. A sibling died at 18mths and had complete AVSD, bilateral cleft lip and palate, right 5th finger clinodactyly, and medially deviated/broad great toes.

1 fetus with orofaciodigital syndrome like phenotype (right cleft lip, 4 limb polydactyly, bilateral duplicated hallux, and AVSD). They found compound heterozygous variants in FUZ [p.(Val209_Leu212del) and p.(Glu201Lys)].

PMID: 29068549
1 fetus with lethal short-rib polydactyly syndrome II-like phenotype and a homozygous variant (c.98_111+9del) in FUZ.
1 individual with asphyxiating thoracic dystrophy (ATD) with polydactyly and a (unclear if homozygous) missense variant [p.(Arg284Leu)] in FUZ.

PMID: 34719684
Monozygotic twins with craniosynostosis (1 x metopic, 1 x metopic/coronal) and a homozygous missense variant in FUZ [p.(Arg284Pro)]. They cultured primary osteoblasts and mouse embryonic fibroblasts from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation, suggesting that the FUZ protein normally acts as a negative regulator of osteogenesis.
Sources: Literature
Skeletal dysplasia v0.276 FUZ Chirag Patel Classified gene: FUZ as Green List (high evidence)
Skeletal dysplasia v0.276 FUZ Chirag Patel Gene: fuz has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.220 FUZ Chirag Patel gene: FUZ was added
gene: FUZ was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUZ were set to PMID: 38702430, 29068549, 34719684
Phenotypes for gene: FUZ were set to Ciliopathy_MONDO_0005308; skeletal ciliopathy
Review for gene: FUZ was set to GREEN
gene: FUZ was marked as current diagnostic
Added comment: FUZ is crucial for the transport of components to the primary cilium and potentially promotes protein complex assembly necessary for downstream cilium formation and function. Previous studies have shown complete knockout of Fuz in a mouse model leads to prenatal lethality, coronal craniosynostosis, micrognathia, facial malformations, eye, and heart defects. Suggested as a skeletal ciliopathy disorder gene.

PMID: 38702430
1 individual (from family with 2 affecteds) with orofaciodigital syndrome like phenotype (dysmorphism, bilateral foot preaxial polysyndactyly, right foot postaxial polysyndactyly, broad thumbs, bilateral 5th finger clinodactyly narrow chest, partial AVSD). They found a homozygous missense variant in FUZ [p.(Glu201Lys)]. Parents were heterozygous carriers. A sibling died at 18mths and had complete AVSD, bilateral cleft lip and palate, right 5th finger clinodactyly, and medially deviated/broad great toes.

1 fetus with orofaciodigital syndrome like phenotype (right cleft lip, 4 limb polydactyly, bilateral duplicated hallux, and AVSD). They found compound heterozygous variants in FUZ [p.(Val209_Leu212del) and p.(Glu201Lys)].

PMID: 29068549
1 fetus with lethal short-rib polydactyly syndrome II-like phenotype and a homozygous variant (c.98_111+9del) in FUZ.
1 individual with asphyxiating thoracic dystrophy (ATD) with polydactyly and a (unclear if homozygous) missense variant [p.(Arg284Leu)] in FUZ.

PMID: 34719684
Monozygotic twins with craniosynostosis (1 x metopic, 1 x metopic/coronal) and a homozygous missense variant in FUZ [p.(Arg284Pro)]. They cultured primary osteoblasts and mouse embryonic fibroblasts from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation, suggesting that the FUZ protein normally acts as a negative regulator of osteogenesis.
Sources: Literature
Skeletal dysplasia v0.276 FUZ Chirag Patel Classified gene: FUZ as Green List (high evidence)
Skeletal dysplasia v0.276 FUZ Chirag Patel Gene: fuz has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.220 FUZ Chirag Patel gene: FUZ was added
gene: FUZ was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUZ were set to PMID: 38702430, 29068549, 34719684
Phenotypes for gene: FUZ were set to Ciliopathy_MONDO_0005308; skeletal ciliopathy
Review for gene: FUZ was set to GREEN
gene: FUZ was marked as current diagnostic
Added comment: FUZ is crucial for the transport of components to the primary cilium and potentially promotes protein complex assembly necessary for downstream cilium formation and function. Previous studies have shown complete knockout of Fuz in a mouse model leads to prenatal lethality, coronal craniosynostosis, micrognathia, facial malformations, eye, and heart defects. Suggested as a skeletal ciliopathy disorder gene.

PMID: 38702430
1 individual (from family with 2 affecteds) with orofaciodigital syndrome like phenotype (dysmorphism, bilateral foot preaxial polysyndactyly, right foot postaxial polysyndactyly, broad thumbs, bilateral 5th finger clinodactyly narrow chest, partial AVSD). They found a homozygous missense variant in FUZ [p.(Glu201Lys)]. Parents were heterozygous carriers. A sibling died at 18mths and had complete AVSD, bilateral cleft lip and palate, right 5th finger clinodactyly, and medially deviated/broad great toes.

1 fetus with orofaciodigital syndrome like phenotype (right cleft lip, 4 limb polydactyly, bilateral duplicated hallux, and AVSD). They found compound heterozygous variants in FUZ [p.(Val209_Leu212del) and p.(Glu201Lys)].

PMID: 29068549
1 fetus with lethal short-rib polydactyly syndrome II-like phenotype and a homozygous variant (c.98_111+9del) in FUZ.
1 individual with asphyxiating thoracic dystrophy (ATD) with polydactyly and a (unclear if homozygous) missense variant [p.(Arg284Leu)] in FUZ.

PMID: 34719684
Monozygotic twins with craniosynostosis (1 x metopic, 1 x metopic/coronal) and a homozygous missense variant in FUZ [p.(Arg284Pro)]. They cultured primary osteoblasts and mouse embryonic fibroblasts from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation, suggesting that the FUZ protein normally acts as a negative regulator of osteogenesis.
Sources: Literature
Skeletal dysplasia v0.275 FUZ Chirag Patel gene: FUZ was added
gene: FUZ was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUZ were set to PMID: 38702430, 29068549, 34719684
Phenotypes for gene: FUZ were set to Ciliopathy_MONDO_0005308; skeletal ciliopathy
Review for gene: FUZ was set to GREEN
gene: FUZ was marked as current diagnostic
Added comment: FUZ is crucial for the transport of components to the primary cilium and potentially promotes protein complex assembly necessary for downstream cilium formation and function. Previous studies have shown complete knockout of Fuz in a mouse model leads to prenatal lethality, coronal craniosynostosis, micrognathia, facial malformations, eye, and heart defects. Suggested as a skeletal ciliopathy disorder gene.

PMID: 38702430
1 individual (from family with 2 affecteds) with orofaciodigital syndrome like phenotype (dysmorphism, bilateral foot preaxial polysyndactyly, right foot postaxial polysyndactyly, broad thumbs, bilateral 5th finger clinodactyly narrow chest, partial AVSD). They found a homozygous missense variant in FUZ [p.(Glu201Lys)]. Parents were heterozygous carriers. A sibling died at 18mths and had complete AVSD, bilateral cleft lip and palate, right 5th finger clinodactyly, and medially deviated/broad great toes.

1 fetus with orofaciodigital syndrome like phenotype (right cleft lip, 4 limb polydactyly, bilateral duplicated hallux, and AVSD). They found compound heterozygous variants in FUZ [p.(Val209_Leu212del) and p.(Glu201Lys)].

PMID: 29068549
1 fetus with lethal short-rib polydactyly syndrome II-like phenotype and a homozygous variant (c.98_111+9del) in FUZ.
1 individual with asphyxiating thoracic dystrophy (ATD) with polydactyly and a (unclear if homozygous) missense variant [p.(Arg284Leu)] in FUZ.

PMID: 34719684
Monozygotic twins with craniosynostosis (1 x metopic, 1 x metopic/coronal) and a homozygous missense variant in FUZ [p.(Arg284Pro)]. They cultured primary osteoblasts and mouse embryonic fibroblasts from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation, suggesting that the FUZ protein normally acts as a negative regulator of osteogenesis.
Sources: Literature
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v1.14 FUZ Chirag Patel Classified gene: FUZ as Green List (high evidence)
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v1.14 FUZ Chirag Patel Gene: fuz has been classified as Green List (High Evidence).
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v1.13 FUZ Chirag Patel gene: FUZ was added
gene: FUZ was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy. Sources: Literature
Mode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUZ were set to PMID: 38702430, 29068549, 34719684
Phenotypes for gene: FUZ were set to Ciliopathy_MONDO_0005308; skeletal ciliopathy
Review for gene: FUZ was set to GREEN
gene: FUZ was marked as current diagnostic
Added comment: FUZ is crucial for the transport of components to the primary cilium and potentially promotes protein complex assembly necessary for downstream cilium formation and function. Previous studies have shown complete knockout of Fuz in a mouse model leads to prenatal lethality, coronal craniosynostosis, micrognathia, facial malformations, eye, and heart defects. Suggested as a skeletal ciliopathy disorder gene.

PMID: 38702430
1 individual (from family with 2 affecteds) with orofaciodigital syndrome like phenotype (dysmorphism, bilateral foot preaxial polysyndactyly, right foot postaxial polysyndactyly, broad thumbs, bilateral 5th finger clinodactyly narrow chest, partial AVSD). They found a homozygous missense variant in FUZ [p.(Glu201Lys)]. Parents were heterozygous carriers. A sibling died at 18mths and had complete AVSD, bilateral cleft lip and palate, right 5th finger clinodactyly, and medially deviated/broad great toes.

1 fetus with orofaciodigital syndrome like phenotype (right cleft lip, 4 limb polydactyly, bilateral duplicated hallux, and AVSD). They found compound heterozygous variants in FUZ [p.(Val209_Leu212del) and p.(Glu201Lys)].

PMID: 29068549
1 fetus with lethal short-rib polydactyly syndrome II-like phenotype and a homozygous variant (c.98_111+9del) in FUZ.
1 individual with asphyxiating thoracic dystrophy (ATD) with polydactyly and a (unclear if homozygous) missense variant [p.(Arg284Leu)] in FUZ.

PMID: 34719684
Monozygotic twins with craniosynostosis (1 x metopic, 1 x metopic/coronal) and a homozygous missense variant in FUZ [p.(Arg284Pro)]. They cultured primary osteoblasts and mouse embryonic fibroblasts from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation, suggesting that the FUZ protein normally acts as a negative regulator of osteogenesis.
Sources: Literature
Ciliopathies v1.53 FUZ Chirag Patel Classified gene: FUZ as Green List (high evidence)
Ciliopathies v1.53 FUZ Chirag Patel Gene: fuz has been classified as Green List (High Evidence).
Fetal anomalies v1.246 FUZ Chirag Patel Classified gene: FUZ as Green List (high evidence)
Fetal anomalies v1.246 FUZ Chirag Patel Gene: fuz has been classified as Green List (High Evidence).
Genetic Epilepsy v1.11 ANO4 Ain Roesley gene: ANO4 was added
gene: ANO4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANO4 were set to 38744284
Phenotypes for gene: ANO4 were set to neurodevelopmental disorder MONDO:0700092, ANO4-related
Review for gene: ANO4 was set to GREEN
gene: ANO4 was marked as current diagnostic
Added comment: aka TMEM16D

5x de novo + 2x inherited missense (73% penetrance + asymptomatic)

the ones with de novo variants:
all had ID, hypotonia
4x skeletal features (scoliosis, funnel chest, pet plants, hyper extensible joints)

all had epilepsy
all had abnormal MRI
Sources: Literature
Fetal anomalies v1.245 FUZ Chirag Patel reviewed gene: FUZ: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38702430, 29068549, 34719684; Phenotypes: Ciliopathy_MONDO_0005308, skeletal ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.6032 ANO4 Ain Roesley Classified gene: ANO4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6032 ANO4 Ain Roesley Gene: ano4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.11 ANO4 Ain Roesley gene: ANO4 was added
gene: ANO4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANO4 were set to 38744284
Phenotypes for gene: ANO4 were set to neurodevelopmental disorder MONDO:0700092, ANO4-related
Review for gene: ANO4 was set to GREEN
gene: ANO4 was marked as current diagnostic
Added comment: aka TMEM16D

5x de novo + 2x inherited missense (73% penetrance + asymptomatic)

the ones with de novo variants:
all had ID, hypotonia
4x skeletal features (scoliosis, funnel chest, pet plants, hyper extensible joints)

all had epilepsy
all had abnormal MRI
Sources: Literature
Ciliopathies v1.52 FUZ Chirag Patel gene: FUZ was added
gene: FUZ was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUZ were set to PMID: 38702430, 29068549, 34719684
Phenotypes for gene: FUZ were set to Ciliopathy_MONDO_0005308; skeletal ciliopathy
Review for gene: FUZ was set to GREEN
gene: FUZ was marked as current diagnostic
Added comment: FUZ is crucial for the transport of components to the primary cilium and potentially promotes protein complex assembly necessary for downstream cilium formation and function. Previous studies have shown complete knockout of Fuz in a mouse model leads to prenatal lethality, coronal craniosynostosis, micrognathia, facial malformations, eye, and heart defects. Suggested as a skeletal ciliopathy disorder gene.

PMID: 38702430
1 individual (from family with 2 affecteds) with orofaciodigital syndrome like phenotype (dysmorphism, bilateral foot preaxial polysyndactyly, right foot postaxial polysyndactyly, broad thumbs, bilateral 5th finger clinodactyly narrow chest, partial AVSD). They found a homozygous missense variant in FUZ [p.(Glu201Lys)]. Parents were heterozygous carriers. A sibling died at 18mths and had complete AVSD, bilateral cleft lip and palate, right 5th finger clinodactyly, and medially deviated/broad great toes.

1 fetus with orofaciodigital syndrome like phenotype (right cleft lip, 4 limb polydactyly, bilateral duplicated hallux, and AVSD). They found compound heterozygous variants in FUZ [p.(Val209_Leu212del) and p.(Glu201Lys)].

PMID: 29068549
1 fetus with lethal short-rib polydactyly syndrome II-like phenotype and a homozygous variant (c.98_111+9del) in FUZ.
1 individual with asphyxiating thoracic dystrophy (ATD) with polydactyly and a (unclear if homozygous) missense variant [p.(Arg284Leu)] in FUZ.

PMID: 34719684
Monozygotic twins with craniosynostosis (1 x metopic, 1 x metopic/coronal) and a homozygous missense variant in FUZ [p.(Arg284Pro)]. They cultured primary osteoblasts and mouse embryonic fibroblasts from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation, suggesting that the FUZ protein normally acts as a negative regulator of osteogenesis.
Sources: Literature
Genetic Epilepsy v1.11 ANO4 Ain Roesley gene: ANO4 was added
gene: ANO4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANO4 were set to 38744284
Phenotypes for gene: ANO4 were set to neurodevelopmental disorder MONDO:0700092, ANO4-related
Review for gene: ANO4 was set to GREEN
gene: ANO4 was marked as current diagnostic
Added comment: aka TMEM16D

5x de novo + 2x inherited missense (73% penetrance + asymptomatic)

the ones with de novo variants:
all had ID, hypotonia
4x skeletal features (scoliosis, funnel chest, pet plants, hyper extensible joints)

all had epilepsy
all had abnormal MRI
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6031 ANO4 Ain Roesley Classified gene: ANO4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6031 ANO4 Ain Roesley Gene: ano4 has been classified as Green List (High Evidence).
Mendeliome v1.1813 FUZ Chirag Patel Classified gene: FUZ as Green List (high evidence)
Mendeliome v1.1813 FUZ Chirag Patel Gene: fuz has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6031 ANO4 Ain Roesley Marked gene: ANO4 as ready
Intellectual disability syndromic and non-syndromic v0.6031 ANO4 Ain Roesley Gene: ano4 has been classified as Green List (High Evidence).
Mendeliome v1.1812 ANO4 Ain Roesley Marked gene: ANO4 as ready
Mendeliome v1.1812 ANO4 Ain Roesley Gene: ano4 has been classified as Green List (High Evidence).
Mendeliome v1.1812 ANO4 Ain Roesley Classified gene: ANO4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6031 ANO4 Ain Roesley Classified gene: ANO4 as Green List (high evidence)
Mendeliome v1.1812 ANO4 Ain Roesley Gene: ano4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6031 ANO4 Ain Roesley Gene: ano4 has been classified as Green List (High Evidence).
Mendeliome v1.1811 FUZ Chirag Patel reviewed gene: FUZ: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38702430, 29068549, 34719684; Phenotypes: Ciliopathy_MONDO_0005308, skeletal ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v1.1811 ANO4 Ain Roesley Classified gene: ANO4 as Green List (high evidence)
Mendeliome v1.1811 ANO4 Ain Roesley Gene: ano4 has been classified as Green List (High Evidence).
Mendeliome v1.1810 ANO4 Ain Roesley gene: ANO4 was added
gene: ANO4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANO4 were set to 38744284
Phenotypes for gene: ANO4 were set to neurodevelopmental disorder MONDO:0700092, ANO4-related
Review for gene: ANO4 was set to GREEN
gene: ANO4 was marked as current diagnostic
Added comment: aka TMEM16D

5x de novo + 2x inherited missense (73% penetrance + asymptomatic)

the ones with de novo variants:
all had ID, hypotonia
4x skeletal features (scoliosis, funnel chest, pet plants, hyper extensible joints)

all had epilepsy
all had abnormal MRI
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6030 ANO4 Ain Roesley gene: ANO4 was added
gene: ANO4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANO4 were set to 38744284
Phenotypes for gene: ANO4 were set to neurodevelopmental disorder MONDO:0700092, ANO4-related
Review for gene: ANO4 was set to GREEN
gene: ANO4 was marked as current diagnostic
Added comment: aka TMEM16D

5x de novo + 2x inherited missense (73% penetrance + asymptomatic)

the ones with de novo variants:
all had ID, hypotonia
4x skeletal features (scoliosis, funnel chest, pet plants, hyper extensible joints)

all had epilepsy
all had abnormal MRI
Sources: Literature
Genetic Epilepsy v1.10 KCND1 Ain Roesley Marked gene: KCND1 as ready
Genetic Epilepsy v1.10 KCND1 Ain Roesley Gene: kcnd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.10 KCND1 Ain Roesley Classified gene: KCND1 as Green List (high evidence)
Genetic Epilepsy v1.10 KCND1 Ain Roesley Gene: kcnd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6029 KCND1 Ain Roesley Classified gene: KCND1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6029 KCND1 Ain Roesley Gene: kcnd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6028 KCND1 Ain Roesley Marked gene: KCND1 as ready
Intellectual disability syndromic and non-syndromic v0.6028 KCND1 Ain Roesley Gene: kcnd1 has been classified as Green List (High Evidence).
Mendeliome v1.1809 KCND1 Ain Roesley Marked gene: KCND1 as ready
Mendeliome v1.1809 KCND1 Ain Roesley Gene: kcnd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6028 KCND1 Ain Roesley Classified gene: KCND1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6028 KCND1 Ain Roesley Gene: kcnd1 has been classified as Green List (High Evidence).
Mendeliome v1.1809 KCND1 Ain Roesley Classified gene: KCND1 as Green List (high evidence)
Mendeliome v1.1809 KCND1 Ain Roesley Gene: kcnd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.9 KCND1 Ain Roesley gene: KCND1 was added
gene: KCND1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KCND1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KCND1 were set to 38772379
Phenotypes for gene: KCND1 were set to neurodevelopmental disorder MONDO:0700092, KCND1-related
Review for gene: KCND1 was set to GREEN
gene: KCND1 was marked as current diagnostic
Added comment: 18 males from 17 families
2x de novo missense + 3x maternal NMDs + 12x maternal missense
Some functional studies were done

14x ID
4x delayed motor dev
7x muscular hypotonia
6x epilepsy
Sources: Literature
Mendeliome v1.1808 KCND1 Ain Roesley gene: KCND1 was added
gene: KCND1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KCND1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KCND1 were set to 38772379
Phenotypes for gene: KCND1 were set to neurodevelopmental disorder MONDO:0700092, KCND1-related
Review for gene: KCND1 was set to GREEN
gene: KCND1 was marked as current diagnostic
Added comment: 18 males from 17 families
2x de novo missense + 3x maternal NMDs + 12x maternal missense
Some functional studies were done

14x ID
4x delayed motor dev
7x muscular hypotonia
6x epilepsy
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6027 KCND1 Ain Roesley gene: KCND1 was added
gene: KCND1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KCND1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KCND1 were set to 38772379
Phenotypes for gene: KCND1 were set to neurodevelopmental disorder MONDO:0700092, KCND1-related
Review for gene: KCND1 was set to GREEN
gene: KCND1 was marked as current diagnostic
Added comment: 18 males from 17 families
2x de novo missense + 3x maternal NMDs + 12x maternal missense
Some functional studies were done

14x ID
4x delayed motor dev
7x muscular hypotonia
6x epilepsy
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6026 ATXN7L3 Chirag Patel Classified gene: ATXN7L3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6026 ATXN7L3 Chirag Patel Gene: atxn7l3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6025 ATXN7L3 Chirag Patel gene: ATXN7L3 was added
gene: ATXN7L3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ATXN7L3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATXN7L3 were set to PMID: 38753057
Phenotypes for gene: ATXN7L3 were set to Neurodevelopmental disorder, MONDO_0100500
Review for gene: ATXN7L3 was set to GREEN
gene: ATXN7L3 was marked as current diagnostic
Added comment: This study reports 9 unrelated individuals with de novo heterozygous variants in ATXN7L3 identified through WES testing and GeneMatcher. Core clinical features included: global motor and language developmental delay, hypotonia, and dysmorphic features (hypertelorism, epicanthal folds, blepharoptosis, small nose, small mouth, and low-set posteriorly rotated ears). Variable features included: feeding difficulties, seizures, mild periventricular leukomalacia, and structural cardiac abnormalities.

A recurrent nonsense variant [p.(Arg114Ter)] was found in 5/9 individuals. The other variants were 1 frameshift [p.(Ser112LysfsTer12)] and 3 missense variants [p.(Ile71Thr), p.(Ser92Arg), and p.(Leu106Pro)]. They investigated the effects of the recurrent nonsense variant [p.(Arg114Ter)] in fibroblasts of an affected individual. ATXN7L3 protein levels were reduced, and deubiquitylation was impaired (as indicated by an increase in histone H2Bub1 levels). This is consistent with the previous observation of increased H2Bub1 levels in Atxn7l3-null mouse embryos, which have developmental delay and embryonic lethality.

Pathogenic variants in deubiquitinating enzymes (DUBs) have been implicated in neurodevelopmental disorders (ND) and congenital abnormalities. ATXN7L3 is a component of the DUB module of the SAGA complex, and two other related DUB modules, and serves as an obligate adaptor protein of 3 ubiquitin-specific proteases (USP22, USP27X or USP51).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6024 FAM177A1 Chirag Patel Classified gene: FAM177A1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6024 FAM177A1 Chirag Patel Gene: fam177a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6023 FAM177A1 Chirag Patel Classified gene: FAM177A1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6023 FAM177A1 Chirag Patel Gene: fam177a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6022 FAM177A1 Chirag Patel gene: FAM177A1 was added
gene: FAM177A1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FAM177A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM177A1 were set to PMID: 38767059, 25558065
Phenotypes for gene: FAM177A1 were set to Neurodevelopmental disorder, MONDO_0100500
Review for gene: FAM177A1 was set to GREEN
gene: FAM177A1 was marked as current diagnostic
Added comment: PMID: 38767059
5 individuals from 3 unrelated families reported with with biallelic loss of function variants in FAM177A1. Clinical features included: global developmental delay, intellectual disability, seizures, behavioural abnormalities, hypotonia, gait disturbance, and macrocephaly.

They showed that FAM177A1 localizes to the Golgi complex in mammalian and zebrafish cells. Intersection of the RNA-seq and metabolomic datasets from FAM177A1-deficient human fibroblasts and whole zebrafish larvae demonstrated dysregulation of pathways associated with apoptosis, inflammation, and negative regulation of cell proliferation.

PMID: 25558065
A study of 143 multiplex consanguineous families identified a homozygous frameshift variant in FAM177A1 in 1 family with 4 affected siblings with intellectual disability, dolicocephaly, obesity, and macrocephaly. The variant segregated with all 4 affected siblings and parents were confirmed heterozygous carriers.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6021 ERF Chirag Patel Classified gene: ERF as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6021 ERF Chirag Patel Gene: erf has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6020 ERF Chirag Patel reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38824261; Phenotypes: Noonan syndrome-like with or without craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rasopathy v0.104 ERF Chirag Patel Classified gene: ERF as Green List (high evidence)
Rasopathy v0.104 ERF Chirag Patel Gene: erf has been classified as Green List (High Evidence).
Rasopathy v0.103 ERF Chirag Patel gene: ERF was added
gene: ERF was added to Rasopathy. Sources: Literature
Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERF were set to PMID: 38824261
Phenotypes for gene: ERF were set to Noonan syndrome-like with or without craniosynostosis
Review for gene: ERF was set to GREEN
gene: ERF was marked as current diagnostic
Added comment: ERF gene encodes a transcriptional regulator negatively controlling RAS-MAPK signalling. It has been associated with syndromic craniosynostosis involving various cranial sutures and Chitayat syndrome (respiratory distress, skeletal anomalies, and facial dysmorphism).

This paper describes 26 individuals from 15 unrelated families with Noonan-syndrome (NS) like phenotype and heterozygous nonsense and frameshift variants in ERF (most cases were familial). The clinical features included: variable global developmental and/or language delay, absolute/relative macrocephaly, short stature (<3rd centile), and dysmorphism (high forehead, hypertelorism, ptosis, wide nasal bridge, and low-set/posteriorly angulated ears). There were no individuals with typical NS cardiac involvement. Craniosynostosis was only seen in 3/26 unrelated individuals.

These findings provide evidence that heterozygous loss-of-function variants in ERF cause a "RASopathy" resembling NS with or without craniosynostosis.
Sources: Literature
Hydrops fetalis v0.311 RAPSN Lilian Downie reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34302381, PMID: 33897756, PMID: 28495245; Phenotypes: Fetal akinesia deformation sequence 2 MIM#618388; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6020 PPFIA3 Zornitza Stark Publications for gene: PPFIA3 were set to 37034625
Intellectual disability syndromic and non-syndromic v0.6019 PPFIA3 Zornitza Stark edited their review of gene: PPFIA3: Changed publications: 38723631
Mendeliome v1.1807 PPFIA3 Zornitza Stark Publications for gene: PPFIA3 were set to 37034625
Mendeliome v1.1806 PPFIA3 Zornitza Stark edited their review of gene: PPFIA3: Changed publications: 38723631
Genetic Epilepsy v1.8 PPFIA3 Zornitza Stark Publications for gene: PPFIA3 were set to 38723631
Genetic Epilepsy v1.7 PPFIA3 Zornitza Stark Publications for gene: PPFIA3 were set to 37034625
Genetic Epilepsy v1.6 PPFIA3 Zornitza Stark edited their review of gene: PPFIA3: Changed publications: 38723631
Mendeliome v1.1806 LRRC23 Zornitza Stark Phenotypes for gene: LRRC23 were changed from Non-syndromic male infertility due to sperm motility disorder, (MONDO:0017173), LRRC23-related to Spermatogenic failure 92, MIM# 620848
Mendeliome v1.1805 LRRC23 Zornitza Stark Publications for gene: LRRC23 were set to 37804054
Mendeliome v1.1804 LRRC23 Zornitza Stark Classified gene: LRRC23 as Amber List (moderate evidence)
Mendeliome v1.1804 LRRC23 Zornitza Stark Gene: lrrc23 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1803 LRRC23 Zornitza Stark reviewed gene: LRRC23: Rating: AMBER; Mode of pathogenicity: None; Publications: 38091523; Phenotypes: Spermatogenic failure 92, MIM# 620848; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.47 GCSH Sangavi Sivagnanasundram gene: GCSH was added
gene: GCSH was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCSH were set to 33890291; 36190515; 33569080
Phenotypes for gene: GCSH were set to glycine encephalopathy MONDO:0011612
Review for gene: GCSH was set to GREEN
Added comment: Classified Strong by ClinGen Aminoacidopathy GCEP on 10/02/2023 - https://search.clinicalgenome.org/CCID:004937

Reported in 7 individuals with abnormal biochemical metabolism.
Sources: ClinGen
Aminoacidopathy v1.47 GCDH Sangavi Sivagnanasundram edited their review of gene: GCDH: Changed rating: GREEN
Aminoacidopathy v1.47 GCH1 Sangavi Sivagnanasundram gene: GCH1 was added
gene: GCH1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GCH1 were set to 20301681, 9749603, 10582612, 11026444, 15303002
Phenotypes for gene: GCH1 were set to GTP cyclohydrolase I deficiency MONDO:0100184
Review for gene: GCH1 was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 11/12/2020 - https://search.clinicalgenome.org/CCID:004935

AD individuals have less than 50% GTPCH activity suggesting a dominant negative mechanism of disease.

AR individuals are shown to have severe deficiency of GTPCH activity resulting in hhyperphenylalaninemia due to secondary PAH deficiency which can be detected on NBS.
Sources: ClinGen
Aminoacidopathy v1.47 GCDH Sangavi Sivagnanasundram gene: GCDH was added
gene: GCDH was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCDH were set to 31536184, 7795610, 27476540, 31062211
Phenotypes for gene: GCDH were set to glutaryl-CoA dehydrogenase deficiency MONDO:0009281
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 08/11/2019 - https://search.clinicalgenome.org/CCID:004934

Well established gene-disease association.
Affected individuals present with abnormal glutaric acid, 3-hydroxy-glutaric acid, glutaconic acid and glutarylcarnitine.
c.91+5G>T has been reported to segregate closely within closely related Native American kindreds.
Sources: ClinGen
Combined Immunodeficiency v1.65 POLD1 Zornitza Stark Phenotypes for gene: POLD1 were changed from Combined immunodeficiency, MONDO:0015131, POLD1-related; Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability to Immunodeficiency 120, MIM# 620836; Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability
Combined Immunodeficiency v1.64 POLD1 Zornitza Stark edited their review of gene: POLD1: Changed phenotypes: Immunodeficiency 120, MIM# 620836, Low CD4 T cells, Low B cells, normal maturation, recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability
Mendeliome v1.1803 POLD1 Zornitza Stark Phenotypes for gene: POLD1 were changed from Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381; MONDO:0014157; Combined immunodeficiency, MONDO:0015131, POLD1-related to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381; MONDO:0014157; Immunodeficiency 120, MIM# 620836
Mendeliome v1.1802 POLD1 Zornitza Stark edited their review of gene: POLD1: Changed phenotypes: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381, MONDO:0014157, Immunodeficiency 120, MIM# 620836
Common Variable Immunodeficiency v1.12 ICOSLG Zornitza Stark edited their review of gene: ICOSLG: Changed phenotypes: Immunodeficiency 119, MIM# 620825, Combined immunodeficiency, recurrent bacterial and viral infections, neutropaenia
Combined Immunodeficiency v1.64 ICOSLG Zornitza Stark Phenotypes for gene: ICOSLG were changed from Combined immunodeficiency; recurrent bacterial and viral infections; neutropaenia to Immunodeficiency 119, MIM# 620825; Combined immunodeficiency; recurrent bacterial and viral infections; neutropaenia
Combined Immunodeficiency v1.63 ICOSLG Zornitza Stark edited their review of gene: ICOSLG: Changed phenotypes: Immunodeficiency 119, MIM# 620825, Combined immunodeficiency, recurrent bacterial and viral infections, neutropaenia
Mendeliome v1.1802 ICOSLG Zornitza Stark Phenotypes for gene: ICOSLG were changed from Combined immunodeficiency; recurrent bacterial and viral infections; neutropaenia to Immunodeficiency 119, MIM# 620825; Combined immunodeficiency; recurrent bacterial and viral infections; neutropaenia
Mendeliome v1.1801 ICOSLG Zornitza Stark edited their review of gene: ICOSLG: Changed phenotypes: Immunodeficiency 119, MIM# 620825, Combined immunodeficiency, recurrent bacterial and viral infections, neutropaenia
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.326 SYCP2L Zornitza Stark Phenotypes for gene: SYCP2L were changed from Premature ovarian insufficiency to Premature ovarian failure 24, MIM# 620840
Mendeliome v1.1801 SYCP2L Zornitza Stark Phenotypes for gene: SYCP2L were changed from Premature ovarian insufficiency to Premature ovarian failure 24, MIM# 620840
Cerebral Palsy v1.275 DLG4 Zornitza Stark Marked gene: DLG4 as ready
Cerebral Palsy v1.275 DLG4 Zornitza Stark Gene: dlg4 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.275 DLG4 Zornitza Stark Classified gene: DLG4 as Red List (low evidence)
Cerebral Palsy v1.275 DLG4 Zornitza Stark Gene: dlg4 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.274 DLG4 Zornitza Stark Classified gene: DLG4 as Red List (low evidence)
Cerebral Palsy v1.274 DLG4 Zornitza Stark Gene: dlg4 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.273 DCC Zornitza Stark Marked gene: DCC as ready
Cerebral Palsy v1.273 DCC Zornitza Stark Gene: dcc has been classified as Red List (Low Evidence).
Cerebral Palsy v1.273 DCC Zornitza Stark Classified gene: DCC as Red List (low evidence)
Cerebral Palsy v1.273 DCC Zornitza Stark Gene: dcc has been classified as Red List (Low Evidence).
Cerebral Palsy v1.272 CUL3 Zornitza Stark Marked gene: CUL3 as ready
Cerebral Palsy v1.272 CUL3 Zornitza Stark Gene: cul3 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.272 CUL3 Zornitza Stark Classified gene: CUL3 as Red List (low evidence)
Cerebral Palsy v1.272 CUL3 Zornitza Stark Gene: cul3 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.271 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Cerebral Palsy v1.271 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Red List (Low Evidence).
Cerebral Palsy v1.271 DNMT3A Zornitza Stark Classified gene: DNMT3A as Red List (low evidence)
Cerebral Palsy v1.271 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Red List (Low Evidence).
Cerebral Palsy v1.270 EHMT1 Zornitza Stark Marked gene: EHMT1 as ready
Cerebral Palsy v1.270 EHMT1 Zornitza Stark Gene: ehmt1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.270 EHMT1 Zornitza Stark Classified gene: EHMT1 as Red List (low evidence)
Cerebral Palsy v1.270 EHMT1 Zornitza Stark Gene: ehmt1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.269 EZH2 Zornitza Stark Marked gene: EZH2 as ready
Cerebral Palsy v1.269 EZH2 Zornitza Stark Gene: ezh2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.269 EZH2 Zornitza Stark Classified gene: EZH2 as Red List (low evidence)
Cerebral Palsy v1.269 EZH2 Zornitza Stark Gene: ezh2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.268 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
Cerebral Palsy v1.268 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.268 FGFR1 Zornitza Stark Classified gene: FGFR1 as Red List (low evidence)
Cerebral Palsy v1.268 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.267 FUS Zornitza Stark Marked gene: FUS as ready
Cerebral Palsy v1.267 FUS Zornitza Stark Gene: fus has been classified as Red List (Low Evidence).
Cerebral Palsy v1.267 FUS Zornitza Stark Classified gene: FUS as Red List (low evidence)
Cerebral Palsy v1.267 FUS Zornitza Stark Gene: fus has been classified as Red List (Low Evidence).
Cerebral Palsy v1.266 GABBR2 Zornitza Stark Marked gene: GABBR2 as ready
Cerebral Palsy v1.266 GABBR2 Zornitza Stark Gene: gabbr2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.266 GABBR2 Zornitza Stark Classified gene: GABBR2 as Red List (low evidence)
Cerebral Palsy v1.266 GABBR2 Zornitza Stark Gene: gabbr2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.265 GATAD2B Zornitza Stark Marked gene: GATAD2B as ready
Cerebral Palsy v1.265 GATAD2B Zornitza Stark Gene: gatad2b has been classified as Red List (Low Evidence).
Cerebral Palsy v1.265 GATAD2B Zornitza Stark Classified gene: GATAD2B as Red List (low evidence)
Cerebral Palsy v1.265 GATAD2B Zornitza Stark Gene: gatad2b has been classified as Red List (Low Evidence).
Cerebral Palsy v1.264 GRIN2A Zornitza Stark Marked gene: GRIN2A as ready
Cerebral Palsy v1.264 GRIN2A Zornitza Stark Gene: grin2a has been classified as Red List (Low Evidence).
Cerebral Palsy v1.264 GRIN2A Zornitza Stark Classified gene: GRIN2A as Red List (low evidence)
Cerebral Palsy v1.264 GRIN2A Zornitza Stark Gene: grin2a has been classified as Red List (Low Evidence).
Cerebral Palsy v1.263 HIVEP2 Zornitza Stark Marked gene: HIVEP2 as ready
Cerebral Palsy v1.263 HIVEP2 Zornitza Stark Gene: hivep2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.263 HIVEP2 Zornitza Stark Classified gene: HIVEP2 as Red List (low evidence)
Cerebral Palsy v1.263 HIVEP2 Zornitza Stark Gene: hivep2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.262 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Cerebral Palsy v1.262 KAT6B Zornitza Stark Gene: kat6b has been classified as Red List (Low Evidence).
Cerebral Palsy v1.262 KAT6B Zornitza Stark Classified gene: KAT6B as Red List (low evidence)
Cerebral Palsy v1.262 KAT6B Zornitza Stark Gene: kat6b has been classified as Red List (Low Evidence).
Cerebral Palsy v1.261 KCNH1 Zornitza Stark Marked gene: KCNH1 as ready
Cerebral Palsy v1.261 KCNH1 Zornitza Stark Gene: kcnh1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.261 KCNH1 Zornitza Stark Classified gene: KCNH1 as Red List (low evidence)
Cerebral Palsy v1.261 KCNH1 Zornitza Stark Gene: kcnh1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.260 KCNQ3 Zornitza Stark Marked gene: KCNQ3 as ready
Cerebral Palsy v1.260 KCNQ3 Zornitza Stark Gene: kcnq3 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.260 KCNQ3 Zornitza Stark Classified gene: KCNQ3 as Red List (low evidence)
Cerebral Palsy v1.260 KCNQ3 Zornitza Stark Gene: kcnq3 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.259 KCNQ5 Zornitza Stark Marked gene: KCNQ5 as ready
Cerebral Palsy v1.259 KCNQ5 Zornitza Stark Gene: kcnq5 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.259 KCNQ5 Zornitza Stark Classified gene: KCNQ5 as Red List (low evidence)
Cerebral Palsy v1.259 KCNQ5 Zornitza Stark Gene: kcnq5 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.258 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Cerebral Palsy v1.258 KMT2D Zornitza Stark Gene: kmt2d has been classified as Red List (Low Evidence).
Cerebral Palsy v1.258 KMT2D Zornitza Stark Classified gene: KMT2D as Red List (low evidence)
Cerebral Palsy v1.258 KMT2D Zornitza Stark Gene: kmt2d has been classified as Red List (Low Evidence).
Cerebral Palsy v1.257 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Cerebral Palsy v1.257 MACF1 Zornitza Stark Gene: macf1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.257 MACF1 Zornitza Stark Classified gene: MACF1 as Red List (low evidence)
Cerebral Palsy v1.257 MACF1 Zornitza Stark Gene: macf1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.256 MBD5 Zornitza Stark Marked gene: MBD5 as ready
Cerebral Palsy v1.256 MBD5 Zornitza Stark Gene: mbd5 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.256 MBD5 Zornitza Stark Classified gene: MBD5 as Red List (low evidence)
Cerebral Palsy v1.256 MBD5 Zornitza Stark Gene: mbd5 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.255 MED13L Zornitza Stark Marked gene: MED13L as ready
Cerebral Palsy v1.255 MED13L Zornitza Stark Gene: med13l has been classified as Red List (Low Evidence).
Cerebral Palsy v1.255 MED13L Zornitza Stark Classified gene: MED13L as Red List (low evidence)
Cerebral Palsy v1.255 MED13L Zornitza Stark Gene: med13l has been classified as Red List (Low Evidence).
Cerebral Palsy v1.254 MYH2 Zornitza Stark Marked gene: MYH2 as ready
Cerebral Palsy v1.254 MYH2 Zornitza Stark Gene: myh2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.254 MYH2 Zornitza Stark Classified gene: MYH2 as Red List (low evidence)
Cerebral Palsy v1.254 MYH2 Zornitza Stark Gene: myh2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.253 NEFL Zornitza Stark Marked gene: NEFL as ready
Cerebral Palsy v1.253 NEFL Zornitza Stark Gene: nefl has been classified as Red List (Low Evidence).
Cerebral Palsy v1.253 NEFL Zornitza Stark Classified gene: NEFL as Red List (low evidence)
Cerebral Palsy v1.253 NEFL Zornitza Stark Gene: nefl has been classified as Red List (Low Evidence).
Cerebral Palsy v1.252 NFE2L2 Zornitza Stark Marked gene: NFE2L2 as ready
Cerebral Palsy v1.252 NFE2L2 Zornitza Stark Gene: nfe2l2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.252 NFE2L2 Zornitza Stark Classified gene: NFE2L2 as Red List (low evidence)
Cerebral Palsy v1.252 NFE2L2 Zornitza Stark Gene: nfe2l2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.251 NFIB Zornitza Stark Marked gene: NFIB as ready
Cerebral Palsy v1.251 NFIB Zornitza Stark Gene: nfib has been classified as Red List (Low Evidence).
Cerebral Palsy v1.251 NFIB Zornitza Stark Classified gene: NFIB as Red List (low evidence)
Cerebral Palsy v1.251 NFIB Zornitza Stark Gene: nfib has been classified as Red List (Low Evidence).
Cerebral Palsy v1.250 NOTCH1 Zornitza Stark Marked gene: NOTCH1 as ready
Cerebral Palsy v1.250 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.250 NOTCH1 Zornitza Stark Classified gene: NOTCH1 as Red List (low evidence)
Cerebral Palsy v1.250 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.249 NR2F1 Zornitza Stark Marked gene: NR2F1 as ready
Cerebral Palsy v1.249 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.249 NR2F1 Zornitza Stark Classified gene: NR2F1 as Red List (low evidence)
Cerebral Palsy v1.249 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.248 NSD1 Zornitza Stark Marked gene: NSD1 as ready
Cerebral Palsy v1.248 NSD1 Zornitza Stark Gene: nsd1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.248 NSD1 Zornitza Stark Classified gene: NSD1 as Red List (low evidence)
Cerebral Palsy v1.248 NSD1 Zornitza Stark Gene: nsd1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.247 NSD2 Zornitza Stark Marked gene: NSD2 as ready
Cerebral Palsy v1.247 NSD2 Zornitza Stark Gene: nsd2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.247 NSD2 Zornitza Stark Classified gene: NSD2 as Red List (low evidence)
Cerebral Palsy v1.247 NSD2 Zornitza Stark Gene: nsd2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.246 PACS1 Zornitza Stark Marked gene: PACS1 as ready
Cerebral Palsy v1.246 PACS1 Zornitza Stark Gene: pacs1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.246 PACS1 Zornitza Stark Classified gene: PACS1 as Red List (low evidence)
Cerebral Palsy v1.246 PACS1 Zornitza Stark Gene: pacs1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.245 PHIP Zornitza Stark Marked gene: PHIP as ready
Cerebral Palsy v1.245 PHIP Zornitza Stark Gene: phip has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.245 PHIP Zornitza Stark Classified gene: PHIP as Amber List (moderate evidence)
Cerebral Palsy v1.245 PHIP Zornitza Stark Gene: phip has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.244 PPM1D Zornitza Stark Marked gene: PPM1D as ready
Cerebral Palsy v1.244 PPM1D Zornitza Stark Gene: ppm1d has been classified as Red List (Low Evidence).
Cerebral Palsy v1.244 PPM1D Zornitza Stark Classified gene: PPM1D as Red List (low evidence)
Cerebral Palsy v1.244 PPM1D Zornitza Stark Gene: ppm1d has been classified as Red List (Low Evidence).
Cerebral Palsy v1.243 SETBP1 Zornitza Stark Marked gene: SETBP1 as ready
Cerebral Palsy v1.243 SETBP1 Zornitza Stark Gene: setbp1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.243 SETBP1 Zornitza Stark Classified gene: SETBP1 as Red List (low evidence)
Cerebral Palsy v1.243 SETBP1 Zornitza Stark Gene: setbp1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.242 SETD2 Zornitza Stark Marked gene: SETD2 as ready
Cerebral Palsy v1.242 SETD2 Zornitza Stark Gene: setd2 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.242 SETD2 Zornitza Stark Classified gene: SETD2 as Amber List (moderate evidence)
Cerebral Palsy v1.242 SETD2 Zornitza Stark Gene: setd2 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.241 SGCE Zornitza Stark Marked gene: SGCE as ready
Cerebral Palsy v1.241 SGCE Zornitza Stark Gene: sgce has been classified as Red List (Low Evidence).
Cerebral Palsy v1.241 SGCE Zornitza Stark Classified gene: SGCE as Red List (low evidence)
Cerebral Palsy v1.241 SGCE Zornitza Stark Gene: sgce has been classified as Red List (Low Evidence).
Cerebral Palsy v1.240 SIK1 Zornitza Stark Marked gene: SIK1 as ready
Cerebral Palsy v1.240 SIK1 Zornitza Stark Gene: sik1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.240 SIK1 Zornitza Stark Classified gene: SIK1 as Red List (low evidence)
Cerebral Palsy v1.240 SIK1 Zornitza Stark Gene: sik1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.239 SLC1A2 Zornitza Stark Marked gene: SLC1A2 as ready
Cerebral Palsy v1.239 SLC1A2 Zornitza Stark Gene: slc1a2 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.239 SLC1A2 Zornitza Stark Classified gene: SLC1A2 as Amber List (moderate evidence)
Cerebral Palsy v1.239 SLC1A2 Zornitza Stark Gene: slc1a2 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.238 SLC6A5 Zornitza Stark Marked gene: SLC6A5 as ready
Cerebral Palsy v1.238 SLC6A5 Zornitza Stark Gene: slc6a5 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.238 SLC6A5 Zornitza Stark Classified gene: SLC6A5 as Red List (low evidence)
Cerebral Palsy v1.238 SLC6A5 Zornitza Stark Gene: slc6a5 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.237 SMARCA2 Zornitza Stark Marked gene: SMARCA2 as ready
Cerebral Palsy v1.237 SMARCA2 Zornitza Stark Gene: smarca2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.237 SMARCA2 Zornitza Stark Classified gene: SMARCA2 as Red List (low evidence)
Cerebral Palsy v1.237 SMARCA2 Zornitza Stark Gene: smarca2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.236 SMARCA4 Zornitza Stark Marked gene: SMARCA4 as ready
Cerebral Palsy v1.236 SMARCA4 Zornitza Stark Gene: smarca4 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.236 SMARCA4 Zornitza Stark Classified gene: SMARCA4 as Red List (low evidence)
Cerebral Palsy v1.236 SMARCA4 Zornitza Stark Gene: smarca4 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.235 SMC3 Zornitza Stark Marked gene: SMC3 as ready
Cerebral Palsy v1.235 SMC3 Zornitza Stark Gene: smc3 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.235 SMC3 Zornitza Stark Classified gene: SMC3 as Red List (low evidence)
Cerebral Palsy v1.235 SMC3 Zornitza Stark Gene: smc3 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.234 SOX10 Zornitza Stark Marked gene: SOX10 as ready
Cerebral Palsy v1.234 SOX10 Zornitza Stark Gene: sox10 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.234 SOX10 Zornitza Stark Classified gene: SOX10 as Red List (low evidence)
Cerebral Palsy v1.234 SOX10 Zornitza Stark Gene: sox10 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.233 TANC2 Zornitza Stark Marked gene: TANC2 as ready
Cerebral Palsy v1.233 TANC2 Zornitza Stark Gene: tanc2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.233 TANC2 Zornitza Stark Classified gene: TANC2 as Red List (low evidence)
Cerebral Palsy v1.233 TANC2 Zornitza Stark Gene: tanc2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.232 TBR1 Zornitza Stark Marked gene: TBR1 as ready
Cerebral Palsy v1.232 TBR1 Zornitza Stark Gene: tbr1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.232 TBR1 Zornitza Stark Classified gene: TBR1 as Red List (low evidence)
Cerebral Palsy v1.232 TBR1 Zornitza Stark Gene: tbr1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.231 TBX6 Zornitza Stark Marked gene: TBX6 as ready
Cerebral Palsy v1.231 TBX6 Zornitza Stark Gene: tbx6 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.231 TBX6 Zornitza Stark Classified gene: TBX6 as Red List (low evidence)
Cerebral Palsy v1.231 TBX6 Zornitza Stark Gene: tbx6 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.230 TGM6 Zornitza Stark Marked gene: TGM6 as ready
Cerebral Palsy v1.230 TGM6 Zornitza Stark Gene: tgm6 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.230 TGM6 Zornitza Stark Classified gene: TGM6 as Red List (low evidence)
Cerebral Palsy v1.230 TGM6 Zornitza Stark Gene: tgm6 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.229 TOR1A Zornitza Stark Marked gene: TOR1A as ready
Cerebral Palsy v1.229 TOR1A Zornitza Stark Gene: tor1a has been classified as Red List (Low Evidence).
Cerebral Palsy v1.229 TOR1A Zornitza Stark Classified gene: TOR1A as Red List (low evidence)
Cerebral Palsy v1.229 TOR1A Zornitza Stark Gene: tor1a has been classified as Red List (Low Evidence).
Cerebral Palsy v1.228 TSC2 Zornitza Stark Marked gene: TSC2 as ready
Cerebral Palsy v1.228 TSC2 Zornitza Stark Gene: tsc2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.228 TSC2 Zornitza Stark Classified gene: TSC2 as Red List (low evidence)
Cerebral Palsy v1.228 TSC2 Zornitza Stark Gene: tsc2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.227 TSHR Zornitza Stark Marked gene: TSHR as ready
Cerebral Palsy v1.227 TSHR Zornitza Stark Gene: tshr has been classified as Red List (Low Evidence).
Cerebral Palsy v1.227 TSHR Zornitza Stark Classified gene: TSHR as Red List (low evidence)
Cerebral Palsy v1.227 TSHR Zornitza Stark Gene: tshr has been classified as Red List (Low Evidence).
Prepair 1000+ v1.6 AAAS Zornitza Stark edited their review of gene: AAAS: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.6 AAAS Zornitza Stark edited their review of gene: AAAS: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Prepair 1000+ v1.6 AAAS Zornitza Stark reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM# 231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6019 SSR4 Zornitza Stark Marked gene: SSR4 as ready
Intellectual disability syndromic and non-syndromic v0.6019 SSR4 Zornitza Stark Gene: ssr4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6019 SSR4 Zornitza Stark Phenotypes for gene: SSR4 were changed from to Congenital disorder of glycosylation, type Iy, MIM# 300934
Intellectual disability syndromic and non-syndromic v0.6018 SSR4 Zornitza Stark Publications for gene: SSR4 were set to
Intellectual disability syndromic and non-syndromic v0.6017 SSR4 Zornitza Stark Mode of inheritance for gene: SSR4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.6016 SSR4 Zornitza Stark reviewed gene: SSR4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iy, MIM# 300934; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.6016 RELN Zornitza Stark Marked gene: RELN as ready
Intellectual disability syndromic and non-syndromic v0.6016 RELN Zornitza Stark Gene: reln has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6016 RELN Zornitza Stark Publications for gene: RELN were set to
Intellectual disability syndromic and non-syndromic v0.6015 RELN Zornitza Stark reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6015 RELN Zornitza Stark Phenotypes for gene: RELN were changed from to Lissencephaly 2 (Norman-Roberts type), MIM# 257320
Intellectual disability syndromic and non-syndromic v0.6014 RELN Zornitza Stark Mode of inheritance for gene: RELN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6013 SLC35A1 Anissa Johnson Deleted their review
Intellectual disability syndromic and non-syndromic v0.6013 RELN Tashunka Taylor-Miller changed review comment from: 7 individuals from 4 families with biallelic variants, and 13 individuals from 7 families with monoallelic (heterozygous) variants of RELN and frontotemporal or temporal-predominant lissencephaly variant. Associated features: intellectual disability (16/20), seizures (5/20), unprovoked aggression (6/20), sleep disturbance (7/20)
Variant spectrum includes: loss of function, missense, splice-site variants.

MRI features include: anterior-predominant “thin”lisencephaly pachygyria with cerebellar hypoplasia
Biallelic variants are associated with a severe phenotype that includes cerebellar hypoplasia.
Monoallelic variants are associated with incomplete penetrance and variable expressivity (eg: one adult with abnormal MRI but normal intelligence and neurological profile).; to: 7 individuals from 4 families with biallelic variants, and 13 individuals from 7 families with monoallelic (heterozygous) variants of RELN and frontotemporal or temporal-predominant lissencephaly variant. Associated features: intellectual disability (16/20), seizures (5/20), unprovoked aggression (6/20), sleep disturbance (7/20)
Variant spectrum includes: loss of function, missense, splice-site variants.

MRI features include: anterior-predominant “thin” lisencephaly pachygyria with cerebellar hypoplasia.
Biallelic variants are associated with a severe phenotype that includes cerebellar hypoplasia.
Monoallelic variants are associated with incomplete penetrance and variable expressivity (eg: one adult with abnormal MRI but normal intelligence and neurological profile).
Intellectual disability syndromic and non-syndromic v0.6013 RELN Tashunka Taylor-Miller edited their review of gene: RELN: Changed publications: PMID: 35769015, PMID: 29671837
Intellectual disability syndromic and non-syndromic v0.6013 RELN Tashunka Taylor-Miller reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35769015, 29671837; Phenotypes: OMIM *600514, HP:0001339, DOID:0070338; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral Palsy v1.226 CTCF Zornitza Stark Marked gene: CTCF as ready
Cerebral Palsy v1.226 CTCF Zornitza Stark Gene: ctcf has been classified as Red List (Low Evidence).
Cerebral Palsy v1.226 CTCF Zornitza Stark Classified gene: CTCF as Red List (low evidence)
Cerebral Palsy v1.226 CTCF Zornitza Stark Gene: ctcf has been classified as Red List (Low Evidence).
Cerebral Palsy v1.225 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Cerebral Palsy v1.225 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.225 CLCN7 Zornitza Stark Classified gene: CLCN7 as Red List (low evidence)
Cerebral Palsy v1.225 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.224 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Cerebral Palsy v1.224 CHD7 Zornitza Stark Gene: chd7 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.224 CHD7 Zornitza Stark Classified gene: CHD7 as Amber List (moderate evidence)
Cerebral Palsy v1.224 CHD7 Zornitza Stark Gene: chd7 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.223 CHD4 Zornitza Stark Marked gene: CHD4 as ready
Cerebral Palsy v1.223 CHD4 Zornitza Stark Gene: chd4 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.223 CHD4 Zornitza Stark Classified gene: CHD4 as Red List (low evidence)
Cerebral Palsy v1.223 CHD4 Zornitza Stark Gene: chd4 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.222 CHCHD10 Zornitza Stark Marked gene: CHCHD10 as ready
Cerebral Palsy v1.222 CHCHD10 Zornitza Stark Gene: chchd10 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.222 CHCHD10 Zornitza Stark Classified gene: CHCHD10 as Red List (low evidence)
Cerebral Palsy v1.222 CHCHD10 Zornitza Stark Gene: chchd10 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.221 CAMK2G Zornitza Stark Marked gene: CAMK2G as ready
Cerebral Palsy v1.221 CAMK2G Zornitza Stark Gene: camk2g has been classified as Red List (Low Evidence).
Cerebral Palsy v1.221 CAMK2G Zornitza Stark Classified gene: CAMK2G as Red List (low evidence)
Cerebral Palsy v1.221 CAMK2G Zornitza Stark Gene: camk2g has been classified as Red List (Low Evidence).
Cerebral Palsy v1.220 CAMK2B Zornitza Stark Marked gene: CAMK2B as ready
Cerebral Palsy v1.220 CAMK2B Zornitza Stark Gene: camk2b has been classified as Red List (Low Evidence).
Cerebral Palsy v1.220 CAMK2B Zornitza Stark Classified gene: CAMK2B as Red List (low evidence)
Cerebral Palsy v1.220 CAMK2B Zornitza Stark Gene: camk2b has been classified as Red List (Low Evidence).
Cerebral Palsy v1.219 CACNA1G Zornitza Stark Marked gene: CACNA1G as ready
Cerebral Palsy v1.219 CACNA1G Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence).
Cerebral Palsy v1.219 CACNA1G Zornitza Stark Classified gene: CACNA1G as Green List (high evidence)
Cerebral Palsy v1.219 CACNA1G Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence).
Cerebral Palsy v1.218 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Cerebral Palsy v1.218 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.218 CACNA1D Zornitza Stark Classified gene: CACNA1D as Amber List (moderate evidence)
Cerebral Palsy v1.218 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.217 ATP6V1A Zornitza Stark Marked gene: ATP6V1A as ready
Cerebral Palsy v1.217 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Red List (Low Evidence).
Cerebral Palsy v1.217 ATP6V1A Zornitza Stark Classified gene: ATP6V1A as Red List (low evidence)
Cerebral Palsy v1.217 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Red List (Low Evidence).
Cerebral Palsy v1.216 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Cerebral Palsy v1.216 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.216 ATP1A2 Zornitza Stark Classified gene: ATP1A2 as Red List (low evidence)
Cerebral Palsy v1.216 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.215 ARID1B Zornitza Stark Marked gene: ARID1B as ready
Cerebral Palsy v1.215 ARID1B Zornitza Stark Gene: arid1b has been classified as Red List (Low Evidence).
Cerebral Palsy v1.215 ARID1B Zornitza Stark Classified gene: ARID1B as Red List (low evidence)
Cerebral Palsy v1.215 ARID1B Zornitza Stark Gene: arid1b has been classified as Red List (Low Evidence).
Cerebral Palsy v1.214 DNM2 Zornitza Stark Marked gene: DNM2 as ready
Cerebral Palsy v1.214 DNM2 Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.214 DNM2 Zornitza Stark Classified gene: DNM2 as Red List (low evidence)
Cerebral Palsy v1.214 DNM2 Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.213 TUBB4A Zornitza Stark Publications for gene: TUBB4A were set to 34531397; 33528536
Cerebral Palsy v1.212 TUBG1 Zornitza Stark Marked gene: TUBG1 as ready
Cerebral Palsy v1.212 TUBG1 Zornitza Stark Gene: tubg1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.212 TUBG1 Zornitza Stark Classified gene: TUBG1 as Red List (low evidence)
Cerebral Palsy v1.212 TUBG1 Zornitza Stark Gene: tubg1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.211 UBE3A Zornitza Stark Publications for gene: UBE3A were set to PMID: 33528536
Cerebral Palsy v1.210 ZBTB18 Zornitza Stark Marked gene: ZBTB18 as ready
Cerebral Palsy v1.210 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.210 ZBTB18 Zornitza Stark Classified gene: ZBTB18 as Red List (low evidence)
Cerebral Palsy v1.210 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.209 ZEB2 Zornitza Stark Publications for gene: ZEB2 were set to 33528536; 33098801
Cerebral Palsy v1.208 ITPR1 Zornitza Stark Publications for gene: ITPR1 were set to 28826917; 25981959; 22986007
Cerebral Palsy v1.207 SPTBN2 Zornitza Stark Publications for gene: SPTBN2 were set to 31066025; 25981959; 31721007
Cerebral Palsy v1.206 AP4M1 Zornitza Stark Publications for gene: AP4M1 were set to 19559397; 24065543; 25496299
Cerebral Palsy v1.205 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Cerebral Palsy v1.205 ACAD9 Zornitza Stark Gene: acad9 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.205 ACAD9 Zornitza Stark Classified gene: ACAD9 as Red List (low evidence)
Cerebral Palsy v1.205 ACAD9 Zornitza Stark Gene: acad9 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.204 ARMC9 Zornitza Stark Marked gene: ARMC9 as ready
Cerebral Palsy v1.204 ARMC9 Zornitza Stark Gene: armc9 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.204 ARMC9 Zornitza Stark Classified gene: ARMC9 as Red List (low evidence)
Cerebral Palsy v1.204 ARMC9 Zornitza Stark Gene: armc9 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.203 ARSA Zornitza Stark Marked gene: ARSA as ready
Cerebral Palsy v1.203 ARSA Zornitza Stark Gene: arsa has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.203 ARSA Zornitza Stark Classified gene: ARSA as Amber List (moderate evidence)
Cerebral Palsy v1.203 ARSA Zornitza Stark Gene: arsa has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.202 ASL Zornitza Stark Marked gene: ASL as ready
Cerebral Palsy v1.202 ASL Zornitza Stark Gene: asl has been classified as Red List (Low Evidence).
Cerebral Palsy v1.202 ASL Zornitza Stark Classified gene: ASL as Red List (low evidence)
Cerebral Palsy v1.202 ASL Zornitza Stark Gene: asl has been classified as Red List (Low Evidence).
Cerebral Palsy v1.201 ASPA Zornitza Stark Marked gene: ASPA as ready
Cerebral Palsy v1.201 ASPA Zornitza Stark Gene: aspa has been classified as Red List (Low Evidence).
Cerebral Palsy v1.201 ASPA Zornitza Stark Classified gene: ASPA as Red List (low evidence)
Cerebral Palsy v1.201 ASPA Zornitza Stark Gene: aspa has been classified as Red List (Low Evidence).
Cerebral Palsy v1.200 ATR Zornitza Stark Marked gene: ATR as ready
Cerebral Palsy v1.200 ATR Zornitza Stark Gene: atr has been classified as Red List (Low Evidence).
Cerebral Palsy v1.200 ATR Zornitza Stark Classified gene: ATR as Red List (low evidence)
Cerebral Palsy v1.200 ATR Zornitza Stark Gene: atr has been classified as Red List (Low Evidence).
Cerebral Palsy v1.199 B4GALNT1 Zornitza Stark Marked gene: B4GALNT1 as ready
Cerebral Palsy v1.199 B4GALNT1 Zornitza Stark Gene: b4galnt1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.199 B4GALNT1 Zornitza Stark Classified gene: B4GALNT1 as Red List (low evidence)
Cerebral Palsy v1.199 B4GALNT1 Zornitza Stark Gene: b4galnt1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.198 CACNA1B Zornitza Stark Marked gene: CACNA1B as ready
Cerebral Palsy v1.198 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Red List (Low Evidence).
Cerebral Palsy v1.198 CACNA1B Zornitza Stark Classified gene: CACNA1B as Red List (low evidence)
Cerebral Palsy v1.198 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.6013 DPYD Zornitza Stark Marked gene: DPYD as ready
Intellectual disability syndromic and non-syndromic v0.6013 DPYD Zornitza Stark Gene: dpyd has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6013 DPYD Zornitza Stark Phenotypes for gene: DPYD were changed from to Dihydropyrimidine dehydrogenase deficiency (MIM#274270)
Intellectual disability syndromic and non-syndromic v0.6012 DPYD Zornitza Stark Publications for gene: DPYD were set to
Intellectual disability syndromic and non-syndromic v0.6011 DPYD Zornitza Stark Mode of inheritance for gene: DPYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6010 DPYD Zornitza Stark Classified gene: DPYD as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.6010 DPYD Zornitza Stark Gene: dpyd has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6009 DMD Zornitza Stark Marked gene: DMD as ready
Intellectual disability syndromic and non-syndromic v0.6009 DMD Zornitza Stark Gene: dmd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6009 DMD Zornitza Stark Phenotypes for gene: DMD were changed from to Duchenne muscular dystrophy MIM#310200
Intellectual disability syndromic and non-syndromic v0.6008 DMD Zornitza Stark Mode of inheritance for gene: DMD was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.6007 DMD Zornitza Stark Tag SV/CNV tag was added to gene: DMD.
Intellectual disability syndromic and non-syndromic v0.6007 DMD Zornitza Stark reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Duchenne muscular dystrophy MIM#310200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.6007 SSR4 Katie Thompson changed review comment from: Decipher - only disorder of glycosolation (XLR)
ORPHA:370927
OMIM: 300934. 2 good quality papers, one with 4 unrelated families, two with mendelian inheritance. Evidence of less severe phenotype in heterozygote females
Western blot showed complete loss of protein; to: Decipher - disorder of glycosolation (XLR), strong evidence
ORPHA:370927 GenCC strong. Not in gene2phenotype.
OMIM: 300934. 2 good quality papers, one with 4 unrelated families, two with mendelian inheritance. Evidence of less severe phenotype in heterozygote females
Western blot showed complete loss of protein. All variants caused loss of function mainly from premature termination.
Intellectual disability syndromic and non-syndromic v0.6007 COG7 Zornitza Stark Marked gene: COG7 as ready
Intellectual disability syndromic and non-syndromic v0.6007 COG7 Zornitza Stark Gene: cog7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6007 COG7 Zornitza Stark Phenotypes for gene: COG7 were changed from to Congenital disorder of glycosylation, type IIe , MIM#608779
Intellectual disability syndromic and non-syndromic v0.6006 COG7 Zornitza Stark Publications for gene: COG7 were set to
Intellectual disability syndromic and non-syndromic v0.6005 COG7 Zornitza Stark Mode of inheritance for gene: COG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6005 COG7 Zornitza Stark Mode of inheritance for gene: COG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6004 COG7 Zornitza Stark reviewed gene: COG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 15107842, 17356545, 28883096; Phenotypes: Congenital disorder of glycosylation, type IIe , MIM#608779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6004 SSR4 Katie Thompson changed review comment from: PMID: 24218363; 26264460
SSR4
Decipher - only disorder of glycosolation (XLR)
ORPHA:370927
OMIM: 300934. 2 good quality papers, one with 4 unrelated families, two with mendelian inheritance. Evidence of less severe phenotype in heterozygote females; to: Decipher - only disorder of glycosolation (XLR)
ORPHA:370927
OMIM: 300934. 2 good quality papers, one with 4 unrelated families, two with mendelian inheritance. Evidence of less severe phenotype in heterozygote females
Western blot showed complete loss of protein
Intellectual disability syndromic and non-syndromic v0.6004 COG1 Zornitza Stark Marked gene: COG1 as ready
Intellectual disability syndromic and non-syndromic v0.6004 COG1 Zornitza Stark Gene: cog1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6004 COG1 Zornitza Stark Phenotypes for gene: COG1 were changed from to Congenital disorder of glycosylation, type IIg, MIM# 611209
Intellectual disability syndromic and non-syndromic v0.6003 COG1 Zornitza Stark Publications for gene: COG1 were set to
Intellectual disability syndromic and non-syndromic v0.6002 COG1 Zornitza Stark Mode of inheritance for gene: COG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6001 SSR4 Katie Thompson reviewed gene: SSR4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24218363, 26264460; Phenotypes: intellectual disabilities, hypotonia, microcephaly, seizures, Feeding problems, Facial dysmorphism, Gastrointestinal abnormalities, Failure to thrive, strabismus; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.6001 COG1 Zornitza Stark reviewed gene: COG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16537452, 19008299, 17904886, 11980916; Phenotypes: Congenital disorder of glycosylation, type IIg, MIM# 611209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6001 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Intellectual disability syndromic and non-syndromic v0.6001 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6001 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from to COL4A1-related disorder MONDO:0800461
Intellectual disability syndromic and non-syndromic v0.6000 COL4A1 Zornitza Stark Publications for gene: COL4A1 were set to
Intellectual disability syndromic and non-syndromic v0.5999 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5998 SNAP29 Zornitza Stark Marked gene: SNAP29 as ready
Intellectual disability syndromic and non-syndromic v0.5998 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5998 SNAP29 Zornitza Stark Phenotypes for gene: SNAP29 were changed from to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)
Intellectual disability syndromic and non-syndromic v0.5997 SNAP29 Zornitza Stark Publications for gene: SNAP29 were set to
Intellectual disability syndromic and non-syndromic v0.5997 SNAP29 Zornitza Stark Mode of inheritance for gene: SNAP29 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5996 SNAP29 Zornitza Stark Mode of inheritance for gene: SNAP29 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5995 SNAP29 Zornitza Stark reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.6 GABRA4 Zornitza Stark Phenotypes for gene: GABRA4 were changed from Neurodevelopmental disorder MONDO:0700092, GABRA4-related to Neurodevelopmental disorder MONDO:0700092, GABRA4-related
Genetic Epilepsy v1.5 GABRA4 Zornitza Stark Phenotypes for gene: GABRA4 were changed from Developmental and epileptic encephalopathy MONDO:0100062, GABRA4-related to Neurodevelopmental disorder MONDO:0700092, GABRA4-related
Genetic Epilepsy v1.4 GABRA4 Zornitza Stark Classified gene: GABRA4 as Green List (high evidence)
Genetic Epilepsy v1.4 GABRA4 Zornitza Stark Gene: gabra4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.3 GABRA4 Zornitza Stark Classified gene: GABRA4 as Green List (high evidence)
Genetic Epilepsy v1.3 GABRA4 Zornitza Stark Gene: gabra4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.2 GABRA4 Zornitza Stark edited their review of gene: GABRA4: Added comment: Three more novel de novo missense variants in GABRA4 (NM_000809.4): c.797 C > T, p.(Pro266Leu), c.899 C > A, p.(Thr300Asn), and c.634 G > A, p.(Val212Ile) reported.

The p.(Thr300Asn) variant impacts the same codon as the previously reported variant p.(Thr300Ile) and likely arose post-zygotically as evidenced by sequencing oral mucosal cells.

Overlapping phenotypes among affected individuals included developmental delay (4/4), epileptiform EEG abnormalities (3/4), attention deficits (3/4), seizures (2/4), autistic features (2/4) and structural brain abnormalities (2/4).; Changed rating: GREEN; Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, GABRA4-related
Mendeliome v1.1800 GABRA4 Zornitza Stark Phenotypes for gene: GABRA4 were changed from Developmental and epileptic encephalopathy MONDO:0100062, GABRA4-related to Neurodevelopmental disorder MONDO:0700092, GABRA4-related
Mendeliome v1.1799 GABRA4 Zornitza Stark Publications for gene: GABRA4 were set to 35152403
Mendeliome v1.1798 GABRA4 Zornitza Stark Classified gene: GABRA4 as Green List (high evidence)
Mendeliome v1.1798 GABRA4 Zornitza Stark Gene: gabra4 has been classified as Green List (High Evidence).
Mendeliome v1.1797 GABRA4 Zornitza Stark edited their review of gene: GABRA4: Added comment: Three more novel de novo missense variants in GABRA4 (NM_000809.4): c.797 C > T, p.(Pro266Leu), c.899 C > A, p.(Thr300Asn), and c.634 G > A, p.(Val212Ile) reported.

The p.(Thr300Asn) variant impacts the same codon as the previously reported variant p.(Thr300Ile) and likely arose post-zygotically as evidenced by sequencing oral mucosal cells.

Overlapping phenotypes among affected individuals included developmental delay (4/4), epileptiform EEG abnormalities (3/4), attention deficits (3/4), seizures (2/4), autistic features (2/4) and structural brain abnormalities (2/4).; Changed rating: GREEN; Changed publications: 35152403, 38565639; Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, GABRA4-related
Intellectual disability syndromic and non-syndromic v0.5995 GABRA4 Zornitza Stark Marked gene: GABRA4 as ready
Intellectual disability syndromic and non-syndromic v0.5995 GABRA4 Zornitza Stark Gene: gabra4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5995 GABRA4 Zornitza Stark Phenotypes for gene: GABRA4 were changed from Developmental delay; Intellectual disability; Epileptic seizures to Neurodevelopmental disorder MONDO:0700092, GABRA4-related
Intellectual disability syndromic and non-syndromic v0.5994 GABRA4 Zornitza Stark Classified gene: GABRA4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5994 GABRA4 Zornitza Stark Gene: gabra4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5993 GABRA4 Zornitza Stark reviewed gene: GABRA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder MONDO:0700092, GABRA4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5993 SNAP29 Gunjan Garg reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33977139, 30793783, 29051910; Phenotypes: cerebral dysgenesis, 609528, Global developmental delay, schizencephaly, polymicrogyria, intellectual disability, neurodevelopment delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.197 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Cerebral Palsy v1.197 CEP290 Zornitza Stark Gene: cep290 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.197 CEP290 Zornitza Stark Classified gene: CEP290 as Red List (low evidence)
Cerebral Palsy v1.197 CEP290 Zornitza Stark Gene: cep290 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.196 COL6A3 Zornitza Stark Marked gene: COL6A3 as ready
Cerebral Palsy v1.196 COL6A3 Zornitza Stark Gene: col6a3 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.196 COL6A3 Zornitza Stark Classified gene: COL6A3 as Red List (low evidence)
Cerebral Palsy v1.196 COL6A3 Zornitza Stark Gene: col6a3 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.195 CYP2U1 Zornitza Stark Publications for gene: CYP2U1 were set to 33528536; 29761117; 23176821
Cerebral Palsy v1.194 CYP2U1 Clare van Eyk reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM#615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.194 COL6A3 Clare van Eyk gene: COL6A3 was added
gene: COL6A3 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL6A3 were set to PMID: 38693247
Phenotypes for gene: COL6A3 were set to Dystonia 27, MIM#616411
Review for gene: COL6A3 was set to RED
Added comment: 2 individuals reported with biallelic variants in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.194 CEP290 Clare van Eyk gene: CEP290 was added
gene: CEP290 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP290 were set to PMID: 38693247
Phenotypes for gene: CEP290 were set to Joubert syndrome 5, MIM#610188
Review for gene: CEP290 was set to RED
Added comment: 1 individual reported with biallelic variants (1 frameshift insertion, 1 splice) in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.194 CACNA1B Clare van Eyk gene: CACNA1B was added
gene: CACNA1B was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1B were set to PMID: 38693247
Phenotypes for gene: CACNA1B were set to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM#618497
Review for gene: CACNA1B was set to RED
Added comment: 1 individual reported with biallelic variants (1 missense, 1 splice) in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.194 B4GALNT1 Clare van Eyk gene: B4GALNT1 was added
gene: B4GALNT1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALNT1 were set to PMID: 38693247
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive, MIM#609195
Review for gene: B4GALNT1 was set to RED
Added comment: 1 individual reported with homozygous frameshift variant in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.194 ATR Clare van Eyk gene: ATR was added
gene: ATR was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATR were set to PMID: 38693247
Phenotypes for gene: ATR were set to Seckel syndrome, MIM#210600
Review for gene: ATR was set to RED
Added comment: 1 individual reported with biallelic splice variants in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.194 ASPA Clare van Eyk gene: ASPA was added
gene: ASPA was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPA were set to PMID: 38693247
Phenotypes for gene: ASPA were set to Canavan disease, MIM#271900
Review for gene: ASPA was set to RED
Added comment: 1 individual reported with biallelic P/LP variants (1 missense and 1 stopgain) in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.194 AGA Clare van Eyk Deleted their review
Cerebral Palsy v1.194 AGA Clare van Eyk gene: AGA was added
gene: AGA was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGA were set to PMID: 38693247
Phenotypes for gene: AGA were set to Canavan disease, MIM#271900
Review for gene: AGA was set to RED
Added comment: Single individual with biallelic variants (1 missense, 1 stopgain) reported in large-scale CP exome sequencing study (PMID: 38693247). No detailed clinical information provided. Rapid progression typically observed.
Sources: Literature
Cerebral Palsy v1.194 ASL Clare van Eyk gene: ASL was added
gene: ASL was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASL were set to PMID: 38693247
Phenotypes for gene: ASL were set to Argininosuccinic aciduria, MIM#207900
Review for gene: ASL was set to RED
Added comment: 1 individual with biallelic P variants reported in large-scale CP exome sequencing study (PMID: 38693247). No detailed clinical information provided.
Sources: Literature
Cerebral Palsy v1.194 ARSA Clare van Eyk gene: ARSA was added
gene: ARSA was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSA were set to PMID: 38693247
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy, MIM#250100
Review for gene: ARSA was set to AMBER
Added comment: 3 individuals with biallelic P/LP variants reported in large-scale CP exome sequencing study (PMID: 38693247). No detailed clinical information provided. MLD is associated with progressive neurologic dysfunction, however variable rate of progression.
Sources: Literature
Cerebral Palsy v1.194 ARMC9 Clare van Eyk gene: ARMC9 was added
gene: ARMC9 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC9 were set to PMID: 38693247
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30, MIM#617622
Review for gene: ARMC9 was set to RED
Added comment: 1 individual with biallelic variants (1 stopgain, 1 missense) reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Cerebral Palsy v1.194 ACAD9 Clare van Eyk gene: ACAD9 was added
gene: ACAD9 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAD9 were set to PMID: 38693247
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, MIM#611126
Review for gene: ACAD9 was set to RED
Added comment: 1 individual with biallelic splice variants reported in large-scale exome sequencing study (PMID: 38693247). No functional assessement reported. No detailed clinical information provided.
Sources: Literature
Cerebral Palsy v1.194 AP4M1 Clare van Eyk reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.194 SPTBN2 Clare van Eyk reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Spinocerebellar ataxia 5 MIM#600224, Spinocerebellar ataxia, autosomal recessive 14 MIM#615386; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cerebral Palsy v1.194 ITPR1 Clare van Eyk reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.194 ZEB2 Clare van Eyk reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Mowat-Wilson syndrome, MIM # 235730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.194 ZBTB18 Clare van Eyk gene: ZBTB18 was added
gene: ZBTB18 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZBTB18 were set to PMID: 38693247
Phenotypes for gene: ZBTB18 were set to Intellectual developmental disorder, autosomal dominant 22, MIM#612337
Review for gene: ZBTB18 was set to AMBER
Added comment: 1 individual with mono-allelic missense variant reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided. Spasticity, ataxia, hypotonia are reported features, but not diagnosed CP (PMID: 27598823).
Sources: Literature
Renal Tubulopathies and related disorders v1.14 MUT Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Associated with interstitial nephritis and chronic kidney failure.
Renal Tubulopathies and related disorders v1.14 MUT Zornitza Stark Marked gene: MUT as ready
Renal Tubulopathies and related disorders v1.14 MUT Zornitza Stark Gene: mut has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5993 COL4A1 Hali Van Niel reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30413629, 33912663, 36786861, 32042920; Phenotypes: COL4A1-related disorder MONDO:0800461, brain small vessel disease 1 with or without ocular anomalies MONDO:0008289, microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:0032814; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral Palsy v1.194 UBE3A Clare van Eyk reviewed gene: UBE3A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Angelman syndrome, MIM #105830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.194 TUBG1 Clare van Eyk gene: TUBG1 was added
gene: TUBG1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: TUBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBG1 were set to PMID: 38693247
Phenotypes for gene: TUBG1 were set to Cortical dysplasia, complex, with other brain malformations 4, MIM#615412
Review for gene: TUBG1 was set to RED
Added comment: 1 individual with a LP missense variant reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Cerebral Palsy v1.194 TUBB4A Clare van Eyk reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Dystonia 4, torsion, autosomal dominant, MIM#128101, Leukodystrophy, hypomyelinating, 6, MIM#612438; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.194 TUBB2B Clare van Eyk reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7, MIM#610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.194 TSHR Clare van Eyk gene: TSHR was added
gene: TSHR was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: TSHR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSHR were set to PMID: 38693247
Phenotypes for gene: TSHR were set to Hyperthyroidism, nonautoimmune, MIM#609152
Review for gene: TSHR was set to RED
Added comment: 2 individuals with LP variants reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Cerebral Palsy v1.194 TSC2 Clare van Eyk gene: TSC2 was added
gene: TSC2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSC2 were set to PMID: 38693247
Phenotypes for gene: TSC2 were set to Tuberous sclerosis-2, MIM#613254
Review for gene: TSC2 was set to RED
Added comment: 1 individual with splice variant reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Cerebral Palsy v1.194 TOR1A Clare van Eyk gene: TOR1A was added
gene: TOR1A was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOR1A were set to PMID: 38693247
Phenotypes for gene: TOR1A were set to Dystonia-1, torsion, MIM#128100
Review for gene: TOR1A was set to RED
Added comment: 1 individual with heterozygous in-frame deletion reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Cerebral Palsy v1.194 TGM6 Clare van Eyk gene: TGM6 was added
gene: TGM6 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: TGM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TGM6 were set to PMID: 38693247
Phenotypes for gene: TGM6 were set to Spinocerebellar ataxia 35, MIM#613908
Review for gene: TGM6 was set to AMBER
Added comment: 2 individuals with LP/P variants reported in large-scale exome sequencing study (PMID: 38693247). No additional clinical information provided.

Age of onset of SCA35 is reported to be teenage-adult years.
Sources: Literature
Cerebral Palsy v1.194 TCF4 Clare van Eyk reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Pitt-Hopkins syndrome, MIM# 610954; Mode of inheritance: None
Cerebral Palsy v1.194 TBX6 Clare van Eyk gene: TBX6 was added
gene: TBX6 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: TBX6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TBX6 were set to PMID: 38693247
Phenotypes for gene: TBX6 were set to Spondylocostal dysostosis 5, MIM#122600
Review for gene: TBX6 was set to RED
Added comment: 1 individual with likely pathogenic missense variant reported in large-scale exome sequencing study (PMID: 38693247). No additional clinical information provided.
Sources: Literature
Cerebral Palsy v1.194 TBR1 Clare van Eyk gene: TBR1 was added
gene: TBR1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: TBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBR1 were set to PMID: 38693247
Phenotypes for gene: TBR1 were set to Intellectual developmental disorder with autism and speech delay, MIM#606053
Review for gene: TBR1 was set to RED
Added comment: 1 individual with mono-allelic LOF (frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247). No additional clinical information provided.
Sources: Literature
Cerebral Palsy v1.194 TANC2 Clare van Eyk gene: TANC2 was added
gene: TANC2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TANC2 were set to PMID: 38693247
Phenotypes for gene: TANC2 were set to Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM#618906
Review for gene: TANC2 was set to RED
Added comment: 1 individual with mono-allelic splice variant reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Cerebral Palsy v1.194 SYNGAP1 Clare van Eyk reviewed gene: SYNGAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Intellectual developmental disorder, autosomal dominant 5, MIM#612621; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.194 SPAST Clare van Eyk reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.194 SOX10 Clare van Eyk gene: SOX10 was added
gene: SOX10 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX10 were set to PMID: 38693247
Phenotypes for gene: SOX10 were set to PCWH syndrome, MIM#609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, MIM#611584
Review for gene: SOX10 was set to RED
Added comment: 1 individual with mono-allelic LOF (stopgain variant) reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Cerebral Palsy v1.194 SON Clare van Eyk reviewed gene: SON: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247, PMID: 37168776; Phenotypes: ZTTK syndrome MIM#617140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.194 SMC3 Clare van Eyk gene: SMC3 was added
gene: SMC3 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMC3 were set to PMID: 38693247
Phenotypes for gene: SMC3 were set to Cornelia de Lange syndrome 3, MIM#610759
Review for gene: SMC3 was set to RED
Added comment: 1 individual with mono-allelic LOF (frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Cerebral Palsy v1.194 SMARCA4 Clare van Eyk gene: SMARCA4 was added
gene: SMARCA4 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCA4 were set to PMID: 38693247
Phenotypes for gene: SMARCA4 were set to Coffin-Siris syndrome 4, MIM#614609
Review for gene: SMARCA4 was set to RED
Added comment: 1 individual with mono-allelic splice variant reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided.
Sources: Literature
Cerebral Palsy v1.194 SMARCA2 Clare van Eyk gene: SMARCA2 was added
gene: SMARCA2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCA2 were set to PMID: 38693247
Phenotypes for gene: SMARCA2 were set to Blepharophimosis-impaired intellectual development syndrome, MIM#619293; Nicolaides-Baraitser syndrome, MIM#601358
Review for gene: SMARCA2 was set to RED
Added comment: 1 individual with mono-allelic missense variant reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Cerebral Palsy v1.194 SLC6A5 Clare van Eyk gene: SLC6A5 was added
gene: SLC6A5 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A5 were set to PMID: 38693247
Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, MIM#614618
Review for gene: SLC6A5 was set to AMBER
Added comment: 2 individuals with mono-allelic pathogenic stopgain variants reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Cerebral Palsy v1.194 SLC1A2 Clare van Eyk gene: SLC1A2 was added
gene: SLC1A2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC1A2 were set to PMID: 38693247; PMID:33528536
Phenotypes for gene: SLC1A2 were set to Developmental and epileptic encephalopathy 41, MIM#617105
Review for gene: SLC1A2 was set to AMBER
Added comment: 1 individual with mono-allelic stopgain variant reported in large-scale exome sequencing study (PMID: 38693247). 1 individual with mono-allelic de novo missense variant reported in large retrospective analysis of WES data from a clinical laboratory referral cohort and healthcare cohort (PMID:33528536).
Sources: Literature
Cerebral Palsy v1.194 SIK1 Clare van Eyk gene: SIK1 was added
gene: SIK1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SIK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SIK1 were set to PMID: 38693247
Phenotypes for gene: SIK1 were set to Developmental and epileptic encephalopathy 30, MIM#616341
Review for gene: SIK1 was set to RED
Added comment: 1 individual with mono-allelic missense variant reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Cerebral Palsy v1.194 SGCE Clare van Eyk gene: SGCE was added
gene: SGCE was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SGCE were set to PMID: 38693247
Phenotypes for gene: SGCE were set to Dystonia-11, myoclonic, MIM#159900
Review for gene: SGCE was set to RED
Added comment: 1 individual with mono-allelic LOF (frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Cerebral Palsy v1.194 PHIP Clare van Eyk edited their review of gene: PHIP: Added comment: 2 individuals reported with cerebral palsy and P/LP splice variants in PHIP in a large retrospective analysis of WES data from a clinical laboratory referral cohort and healthcare cohort (PMID:33528536).; Changed rating: AMBER; Changed publications: PMID: 38693247, PMID:33528536
Cerebral Palsy v1.194 SETD2 Clare van Eyk gene: SETD2 was added
gene: SETD2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETD2 were set to PMID: 38693247; 33528536
Phenotypes for gene: SETD2 were set to Intellectual developmental disorder, autosomal dominant 70, MIM#620157; Luscan-Lumish syndrome, MIM#61683; Rabin-Pappas syndrome, MIM#620155
Review for gene: SETD2 was set to AMBER
Added comment: 1 individual with mono-allelic LOF (frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided.

1 individual reported with cerebral palsy and maternally inherited pathogenic stopgain variant in a large retrospective analysis of WES data from a clinical laboratory referral cohort and healthcare cohort (PMID:33528536).
Sources: Literature
Cerebral Palsy v1.194 SETBP1 Clare van Eyk gene: SETBP1 was added
gene: SETBP1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETBP1 were set to PMID: 38693247
Phenotypes for gene: SETBP1 were set to Intellectual developmental disorder, autosomal dominant 29, MIM#616078; Schinzel-Giedion midface retraction syndrome, MIM#269150
Review for gene: SETBP1 was set to RED
Added comment: 1 individual with mono-allelic stopgain variant reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Cerebral Palsy v1.194 SCN8A Clare van Eyk reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 38693247; Phenotypes: Epileptic encephalopathy 13 MIM# 614558, Cognitive impairment with or without cerebellar ataxia MIM# 614306; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.194 SCN2A Clare van Eyk edited their review of gene: SCN2A: Added comment: 3 additional individuals with mono-allelic P/LP variants (2 missense, 1 stopgain) reported in large-scale exome sequencing study (PMID: 38693247).; Changed publications: 33528536, 29761117, 34114234, 38693247
Cerebral Palsy v1.194 SCN1A Clare van Eyk commented on gene: SCN1A: 1 additional individual with LP missense variant reported in large-scale exome sequencing study (PMID: 38693247).
Cerebral Palsy v1.194 PPM1D Clare van Eyk gene: PPM1D was added
gene: PPM1D was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: PPM1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPM1D were set to PMID: 38693247
Phenotypes for gene: PPM1D were set to Jansen-de Vries syndrome, MIM#617450
Review for gene: PPM1D was set to RED
Added comment: 1 individual with mono-allelic splice variant reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Cerebral Palsy v1.194 PHIP Clare van Eyk gene: PHIP was added
gene: PHIP was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHIP were set to PMID: 38693247
Phenotypes for gene: PHIP were set to Chung-Jansen syndrome, MIM#617991
Review for gene: PHIP was set to RED
Added comment: 1 individual with monoallelic LOF (frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided.

LOF variants in PHIP are associated with developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features.
Sources: Literature
Cerebral Palsy v1.194 PACS1 Clare van Eyk gene: PACS1 was added
gene: PACS1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PACS1 were set to PMID: 38693247
Phenotypes for gene: PACS1 were set to Schuurs-Hoeijmakers syndrome, MIM#615009
Review for gene: PACS1 was set to AMBER
Added comment: 2 individuals with mono-allelic variants (1 missense, 1 splice) reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided. PACS1 variants are associated with hypotonia starting in the new-born period which may persist throughout childhood.
Sources: Literature
Cerebral Palsy v1.194 NSD2 Clare van Eyk gene: NSD2 was added
gene: NSD2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSD2 were set to PMID: 38693247
Phenotypes for gene: NSD2 were set to Rauch-Steindl syndrome, MIM#619695
Review for gene: NSD2 was set to RED
Added comment: 1 individual with mono-allelic LOF variant (frameshift) reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Cerebral Palsy v1.194 NSD1 Clare van Eyk gene: NSD1 was added
gene: NSD1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSD1 were set to PMID: 38693247
Phenotypes for gene: NSD1 were set to Sotos syndrome, MIM#117550
Review for gene: NSD1 was set to RED
Added comment: 2 individuals with mono-allelic LOF (1 stopgain, 1 frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247). No additional clinical information provided.
Sources: Literature
Cerebral Palsy v1.194 NR2F1 Clare van Eyk gene: NR2F1 was added
gene: NR2F1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR2F1 were set to PMID: 38693247
Phenotypes for gene: NR2F1 were set to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM#615722; NR2F1-related neurodevelopmental disorder
Review for gene: NR2F1 was set to RED
Added comment: 1 individual with mono-allelic missense variant reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided.
Sources: Literature
Cerebral Palsy v1.194 NOTCH1 Clare van Eyk gene: NOTCH1 was added
gene: NOTCH1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH1 were set to PMID: 38693247
Phenotypes for gene: NOTCH1 were set to Adams-Oliver syndrome 5, MIM#616028
Review for gene: NOTCH1 was set to AMBER
Added comment: 3 individuals with mono-allelic P/LP variants (1 splice, 1 stopgain, 1 missense) reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided.
Sources: Literature
Cerebral Palsy v1.194 NFIB Clare van Eyk gene: NFIB was added
gene: NFIB was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIB were set to PMID: 38693247
Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development, MIM#618286
Review for gene: NFIB was set to RED
Added comment: 1 individual with mono-allelic LOF (frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Cerebral Palsy v1.194 NFE2L2 Clare van Eyk gene: NFE2L2 was added
gene: NFE2L2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFE2L2 were set to PMID: 38693247
Phenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia , MIM#617744
Review for gene: NFE2L2 was set to RED
Added comment: 1 individual with mono-allelic stopgain variant reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided.
Sources: Literature
Cerebral Palsy v1.194 NEFL Clare van Eyk gene: NEFL was added
gene: NEFL was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: NEFL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEFL were set to Charcot-Marie-Tooth disease, dominant intermediate G, MIM#617882
Review for gene: NEFL was set to RED
Added comment: 1 individual with mono-allelic stopgain variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: Literature
Cerebral Palsy v1.194 NALCN Clare van Eyk edited their review of gene: NALCN: Added comment: 1 additional individual with mono-allelic LP splice variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.; Changed publications: PMID:33528536, PMID:34364746, PMID: 38693247
Intellectual disability syndromic and non-syndromic v0.5993 CLN6 Zornitza Stark Marked gene: CLN6 as ready
Intellectual disability syndromic and non-syndromic v0.5993 CLN6 Zornitza Stark Gene: cln6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5993 CLN6 Zornitza Stark Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780
Intellectual disability syndromic and non-syndromic v0.5992 CLN6 Zornitza Stark Mode of inheritance for gene: CLN6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5991 CLN6 Zornitza Stark reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5991 CLN3 Zornitza Stark Marked gene: CLN3 as ready
Intellectual disability syndromic and non-syndromic v0.5991 CLN3 Zornitza Stark Gene: cln3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5991 CLN3 Zornitza Stark Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3 MIM#204200
Intellectual disability syndromic and non-syndromic v0.5990 CLN3 Zornitza Stark Mode of inheritance for gene: CLN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5989 CLN3 Zornitza Stark reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3 MIM#204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5989 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Intellectual disability syndromic and non-syndromic v0.5989 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5989 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from to CHARGE syndrome, MIM# 214800
Intellectual disability syndromic and non-syndromic v0.5988 CHD7 Zornitza Stark Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5987 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5987 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Intellectual disability syndromic and non-syndromic v0.5987 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5987 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from to COACH syndrome 2, MIM# 619111; Joubert syndrome 9, MIM#612285; Meckel syndrome 6, MIM#612284
Intellectual disability syndromic and non-syndromic v0.5986 CC2D2A Zornitza Stark Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5985 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: COACH syndrome 2, MIM# 619111, Joubert syndrome 9, 612285, Meckel syndrome 6, 612284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5985 CBL Zornitza Stark Marked gene: CBL as ready
Intellectual disability syndromic and non-syndromic v0.5985 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5985 CBL Zornitza Stark Mode of pathogenicity for gene: CBL was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability syndromic and non-syndromic v0.5985 CBL Zornitza Stark Phenotypes for gene: CBL were changed from to CBL-related disorder MONDO:0013308
Intellectual disability syndromic and non-syndromic v0.5984 CBL Zornitza Stark Publications for gene: CBL were set to
Intellectual disability syndromic and non-syndromic v0.5983 CBL Zornitza Stark Mode of inheritance for gene: CBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5982 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Intellectual disability syndromic and non-syndromic v0.5982 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5982 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from to developmental and epileptic encephalopathy, 42 MONDO:0014917
Intellectual disability syndromic and non-syndromic v0.5981 CACNA1A Zornitza Stark Publications for gene: CACNA1A were set to
Intellectual disability syndromic and non-syndromic v0.5980 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5979 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Intellectual disability syndromic and non-syndromic v0.5979 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5979 C12orf65 Zornitza Stark Phenotypes for gene: C12orf65 were changed from to hereditary spastic paraplegia 55 MONDO:0014020
Intellectual disability syndromic and non-syndromic v0.5978 C12orf65 Zornitza Stark Publications for gene: C12orf65 were set to
Intellectual disability syndromic and non-syndromic v0.5977 C12orf65 Zornitza Stark Mode of inheritance for gene: C12orf65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5976 BTD Zornitza Stark Marked gene: BTD as ready
Intellectual disability syndromic and non-syndromic v0.5976 BTD Zornitza Stark Gene: btd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5976 BTD Zornitza Stark Phenotypes for gene: BTD were changed from to biotinidase deficiency MONDO:0009665
Intellectual disability syndromic and non-syndromic v0.5975 BTD Zornitza Stark Publications for gene: BTD were set to
Intellectual disability syndromic and non-syndromic v0.5974 BTD Zornitza Stark Mode of inheritance for gene: BTD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.194 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Cerebral Palsy v1.194 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.194 BSCL2 Zornitza Stark Classified gene: BSCL2 as Red List (low evidence)
Cerebral Palsy v1.194 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5973 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Intellectual disability syndromic and non-syndromic v0.5973 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5973 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from to congenital generalized lipodystrophy type 2 MONDO:0010020
Intellectual disability syndromic and non-syndromic v0.5972 BSCL2 Zornitza Stark Publications for gene: BSCL2 were set to
Intellectual disability syndromic and non-syndromic v0.5971 BSCL2 Zornitza Stark Mode of inheritance for gene: BSCL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5970 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Intellectual disability syndromic and non-syndromic v0.5970 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5970 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome MONDO:0009872
Intellectual disability syndromic and non-syndromic v0.5969 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Intellectual disability syndromic and non-syndromic v0.5968 BCS1L Zornitza Stark Mode of inheritance for gene: BCS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5967 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Intellectual disability syndromic and non-syndromic v0.5967 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5967 BCKDHB Zornitza Stark Phenotypes for gene: BCKDHB were changed from to maple syrup urine disease type 1B MONDO:0023692
Intellectual disability syndromic and non-syndromic v0.5966 BCKDHB Zornitza Stark Publications for gene: BCKDHB were set to
Intellectual disability syndromic and non-syndromic v0.5965 BCKDHB Zornitza Stark Mode of inheritance for gene: BCKDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5964 BCKDHA Zornitza Stark Marked gene: BCKDHA as ready
Intellectual disability syndromic and non-syndromic v0.5964 BCKDHA Zornitza Stark Gene: bckdha has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5964 BCKDHA Zornitza Stark Phenotypes for gene: BCKDHA were changed from to maple syrup urine disease type 1A MONDO:0023691
Intellectual disability syndromic and non-syndromic v0.5963 BCKDHA Zornitza Stark Publications for gene: BCKDHA were set to
Intellectual disability syndromic and non-syndromic v0.5962 BCKDHA Zornitza Stark Mode of inheritance for gene: BCKDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5961 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Intellectual disability syndromic and non-syndromic v0.5961 BBS2 Zornitza Stark Gene: bbs2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5961 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from to Bardet-Biedl syndrome 2 MONDO:0014432
Intellectual disability syndromic and non-syndromic v0.5960 BBS2 Zornitza Stark Publications for gene: BBS2 were set to
Intellectual disability syndromic and non-syndromic v0.5959 BBS2 Zornitza Stark Mode of inheritance for gene: BBS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5958 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Intellectual disability syndromic and non-syndromic v0.5958 BBS12 Zornitza Stark Gene: bbs12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5958 BBS12 Zornitza Stark Phenotypes for gene: BBS12 were changed from to Bardet-Biedl syndrome 12 MONDO:0014440
Intellectual disability syndromic and non-syndromic v0.5957 BBS12 Zornitza Stark Publications for gene: BBS12 were set to
Intellectual disability syndromic and non-syndromic v0.5956 BBS12 Zornitza Stark Mode of inheritance for gene: BBS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5955 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Intellectual disability syndromic and non-syndromic v0.5955 BBS10 Zornitza Stark Gene: bbs10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5955 BBS10 Zornitza Stark Phenotypes for gene: BBS10 were changed from to Bardet-Biedl syndrome 10 MONDO:0014438
Intellectual disability syndromic and non-syndromic v0.5954 BBS10 Zornitza Stark Publications for gene: BBS10 were set to
Intellectual disability syndromic and non-syndromic v0.5953 BBS10 Zornitza Stark Mode of inheritance for gene: BBS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5952 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Intellectual disability syndromic and non-syndromic v0.5952 BBS1 Zornitza Stark Gene: bbs1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5952 BBS1 Zornitza Stark Phenotypes for gene: BBS1 were changed from to Bardet-Biedl syndrome 1 MONDO:0008854
Intellectual disability syndromic and non-syndromic v0.5951 BBS1 Zornitza Stark Publications for gene: BBS1 were set to
Intellectual disability syndromic and non-syndromic v0.5950 BBS1 Zornitza Stark Mode of inheritance for gene: BBS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5949 TBCE Zornitza Stark Marked gene: TBCE as ready
Intellectual disability syndromic and non-syndromic v0.5949 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5949 TBCE Zornitza Stark Phenotypes for gene: TBCE were changed from to Encephalopathy, progressive, with amyotrophy and optic atrophy MIM:617207; Hypoparathyroidism-retardation-dysmorphism syndrome MIM:241410
Intellectual disability syndromic and non-syndromic v0.5948 TBCE Zornitza Stark Publications for gene: TBCE were set to
Intellectual disability syndromic and non-syndromic v0.5947 TBCE Zornitza Stark Mode of inheritance for gene: TBCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5946 SLC25A1 Zornitza Stark Marked gene: SLC25A1 as ready
Intellectual disability syndromic and non-syndromic v0.5946 SLC25A1 Zornitza Stark Gene: slc25a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5946 SLC25A1 Zornitza Stark Phenotypes for gene: SLC25A1 were changed from to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596
Intellectual disability syndromic and non-syndromic v0.5945 SLC25A1 Zornitza Stark Publications for gene: SLC25A1 were set to
Intellectual disability syndromic and non-syndromic v0.5944 SLC25A1 Zornitza Stark Mode of inheritance for gene: SLC25A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5943 SLC25A1 Zornitza Stark reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072, Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.193 MYH2 Clare van Eyk gene: MYH2 was added
gene: MYH2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: MYH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH2 were set to PMID: 38693247
Phenotypes for gene: MYH2 were set to Congenital myopathy 6 with ophthalmoplegia, MIM#605637
Review for gene: MYH2 was set to RED
Added comment: 1 individual with mono-allelic stopgain variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: Literature
Cerebral Palsy v1.193 MFN2 Clare van Eyk reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A MIM#609260, Hereditary motor and sensory neuropathy VIA MIM#601152; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 MED13L Clare van Eyk gene: MED13L was added
gene: MED13L was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MED13L were set to PMID: 38693247
Phenotypes for gene: MED13L were set to Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM#616789
Review for gene: MED13L was set to AMBER
Added comment: 1 individual with mono-allelic stopgain variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: Literature
Cerebral Palsy v1.193 MBD5 Clare van Eyk gene: MBD5 was added
gene: MBD5 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: MBD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MBD5 were set to PMID: 38693247
Phenotypes for gene: MBD5 were set to Intellectual developmental disorder, autosomal dominant 1, MIM#156200
Review for gene: MBD5 was set to AMBER
Added comment: 1 individuals with mono-allelic stopgain variants and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: Literature
Cerebral Palsy v1.193 MACF1 Clare van Eyk gene: MACF1 was added
gene: MACF1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to PMID: 38693247
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM#618325
Review for gene: MACF1 was set to AMBER
Added comment: 1 individual with mono-allelic LP missense variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. Spasticity and involuntary movements described in some cases.
Sources: Literature
Cerebral Palsy v1.193 KMT2D Clare van Eyk gene: KMT2D was added
gene: KMT2D was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to PMID: 38693247
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, MIM#147920
Review for gene: KMT2D was set to AMBER
Added comment: 2 individuals with mono-allelic splice variants and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: Literature
Cerebral Palsy v1.193 KMT2B Clare van Eyk reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Dystonia 28, childhood-onset MIM#617284, Intellectual developmental disorder, autosomal dominant MIM#619934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 KMT2A Clare van Eyk reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Wiedemann-Steiner syndrome - #605130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 KIF1A Clare van Eyk reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Spastic paraplegia 30, autosomal dominant, MIM# 610357; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 KIDINS220 Clare van Eyk reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity - #617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 KCNT1 Clare van Eyk reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Developmental and epileptic encephalopathy MIM#614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 KCNQ5 Clare van Eyk gene: KCNQ5 was added
gene: KCNQ5 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: KCNQ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNQ5 were set to PMID: 38693247
Phenotypes for gene: KCNQ5 were set to Intellectual developmental disorder, autosomal dominant 46, MIM#617601
Review for gene: KCNQ5 was set to AMBER
Added comment: 1 individual with mono-allelic splice variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.

Additional individuals described have motor delays, mostly with hypotonia (PMID: 35583973).
Sources: Literature
Cerebral Palsy v1.193 KCNQ3 Clare van Eyk gene: KCNQ3 was added
gene: KCNQ3 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNQ3 were set to PMID: 38693247
Phenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, 2, MIM#121201
Review for gene: KCNQ3 was set to RED
Added comment: 1 individual with mono-allelic frameshift deletion and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. No evidence for clinical overlap.
Sources: Literature
Cerebral Palsy v1.193 KCNH1 Clare van Eyk gene: KCNH1 was added
gene: KCNH1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNH1 were set to PMID: 38693247
Phenotypes for gene: KCNH1 were set to Temple-Baraitser syndrome, MIM#611816; Zimmermann-Laband syndrome 1, MIM#135500
Review for gene: KCNH1 was set to AMBER
Added comment: 4 individuals with mono-allelic LP missense variants and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: Literature
Cerebral Palsy v1.193 KCNB1 Clare van Eyk reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Developmental and epileptic encephalopathy 26, MIM#616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 KAT6B Clare van Eyk gene: KAT6B was added
gene: KAT6B was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT6B were set to PMID: 38693247
Phenotypes for gene: KAT6B were set to SBBYSS syndrome, MIM#603736; Genitopatellar syndrome, MIM#606170
Review for gene: KAT6B was set to AMBER
Added comment: 1 individual with mono-allelic stopgain variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: Literature
Cerebral Palsy v1.193 KAT6A Clare van Eyk reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Arboleda-Tham syndrome MIM#616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 HIVEP2 Clare van Eyk gene: HIVEP2 was added
gene: HIVEP2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: HIVEP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HIVEP2 were set to PMID: 38693247
Phenotypes for gene: HIVEP2 were set to Intellectual developmental disorder, autosomal dominant 43, MIM#616977
Review for gene: HIVEP2 was set to RED
Added comment: 1 individual with mono-allelic stopgain variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: Literature
Cerebral Palsy v1.193 HECW2 Clare van Eyk reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM#617268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 GRIN2A Clare van Eyk gene: GRIN2A was added
gene: GRIN2A was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIN2A were set to PMID: 38693247
Phenotypes for gene: GRIN2A were set to Epilepsy, focal, with speech disorder and with or without impaired intellectual development, MIM#245570
Review for gene: GRIN2A was set to RED
Added comment: 1 individual with mono-allelic frameshift deletion and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: Literature
Cerebral Palsy v1.193 GNB1 Clare van Eyk reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Intellectual developmental disorder, autosomal dominant 42 MIM# 616973; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 GNAO1 Clare van Eyk reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 GATAD2B Clare van Eyk gene: GATAD2B was added
gene: GATAD2B was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATAD2B were set to PMID: 38693247
Phenotypes for gene: GATAD2B were set to GAND syndrome, MIM#615076
Review for gene: GATAD2B was set to AMBER
Added comment: 2 individuals with mono-allelic stopgain variants and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. Some clinical overlap with CP.
Sources: Literature
Cerebral Palsy v1.193 GABBR2 Clare van Eyk gene: GABBR2 was added
gene: GABBR2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABBR2 were set to PMID: 38693247
Phenotypes for gene: GABBR2 were set to Developmental and epileptic encephalopathy 59, MIM#617904; Neurodevelopmental disorder with poor language and loss of hand skills, MIM#617903
Review for gene: GABBR2 was set to AMBER
Added comment: 1 individual with mono-allelic LP missense variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: Literature
Cerebral Palsy v1.193 FUS Clare van Eyk gene: FUS was added
gene: FUS was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: FUS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FUS were set to PMID: 38693247
Phenotypes for gene: FUS were set to Essential tremor, MIM#614782
Review for gene: FUS was set to RED
Added comment: 1 individual with mono-allelic splice variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: Literature
Cerebral Palsy v1.193 FGFR1 Clare van Eyk gene: FGFR1 was added
gene: FGFR1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR1 were set to PMID: 38693247
Phenotypes for gene: FGFR1 were set to Hartsfield syndrome, MIM#615465
Review for gene: FGFR1 was set to RED
Added comment: 1 individual reported with mono-allelic splice variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.193 EZH2 Clare van Eyk gene: EZH2 was added
gene: EZH2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EZH2 were set to PMID: 38693247
Phenotypes for gene: EZH2 were set to Weaver syndrome, MIM#277590
Review for gene: EZH2 was set to RED
Added comment: 1 individual reported with mono-allelic LP variant (frameshift deletion) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.193 EHMT1 Clare van Eyk gene: EHMT1 was added
gene: EHMT1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EHMT1 were set to PMID: 38693247
Phenotypes for gene: EHMT1 were set to Kleefstra syndrome, MIM#610253
Review for gene: EHMT1 was set to RED
Added comment: Single individual reported with mono-allelic splice variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.193 EEF1A2 Clare van Eyk reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Developmental and epileptic encephalopathy MIM#616409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 DYRK1A Clare van Eyk reviewed gene: DYRK1A: Rating: ; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Intellectual developmental disorder, MIM#614104; Mode of inheritance: None
Cerebral Palsy v1.193 DNMT3A Clare van Eyk gene: DNMT3A was added
gene: DNMT3A was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNMT3A were set to PMID: 38693247
Phenotypes for gene: DNMT3A were set to Heyn-Sproul-Jackson syndrome, MIM#618724; Tatton-Brown-Rahman syndrome, MIM#615879
Review for gene: DNMT3A was set to AMBER
Added comment: 2 individuals reported with mono-allelic frameshift deletions in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.193 DNM2 Clare van Eyk gene: DNM2 was added
gene: DNM2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNM2 were set to PMID: 38693247
Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, axonal type 2M, MIM#606482
Review for gene: DNM2 was set to RED
Added comment: 1 individual reported with mono-allelic missense variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.193 DLG4 Clare van Eyk changed review comment from: 1 individual reported with mono-allelic stopgain variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature; to: 1 individual reported with mono-allelic stopgain variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.193 DLG4 Clare van Eyk gene: DLG4 was added
gene: DLG4 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: DLG4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLG4 were set to PMID: 38693247
Phenotypes for gene: DLG4 were set to Intellectual developmental disorder, autosomal dominant 62, MIM#618793
Review for gene: DLG4 was set to AMBER
Added comment: 1 individual reported with mono-allelic stopgain variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.193 DCC Clare van Eyk gene: DCC was added
gene: DCC was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: DCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DCC were set to PMID: 38693247
Phenotypes for gene: DCC were set to Mirror movements 1 and/or agenesis of the corpus callosum, MIM#157600
Review for gene: DCC was set to RED
Added comment: 1 individual reported with mono-allelic stopgain in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.193 CUL3 Clare van Eyk gene: CUL3 was added
gene: CUL3 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUL3 were set to PMID: 38693247
Phenotypes for gene: CUL3 were set to Neurodevelopmental disorder with or without autism or seizures, MIM#619239, Pseudohypoaldosteronism, type IIE, MIM#614496
Review for gene: CUL3 was set to AMBER
Added comment: 1 individual reported with mono-allelic splice variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Genetic Epilepsy v1.2 RAPGEF2 Zornitza Stark Marked gene: RAPGEF2 as ready
Genetic Epilepsy v1.2 RAPGEF2 Zornitza Stark Gene: rapgef2 has been removed from the panel.
Cerebral Palsy v1.193 CTNNB1 Clare van Eyk reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Neurodevelopmental disorder with spastic diplegia and visual defects, MIM#615075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 CTCF Clare van Eyk gene: CTCF was added
gene: CTCF was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTCF were set to PMID: 38693247
Phenotypes for gene: CTCF were set to Intellectual developmental disorder, autosomal dominant 21, MIM#615502
Review for gene: CTCF was set to RED
Added comment: 1 individual reported with mono-allelic stopgain variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.193 CTBP1 Clare van Eyk reviewed gene: CTBP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome MIM#617915; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 COL4A1 Clare van Eyk changed review comment from: Additional 2 individuals reproted with mono-allelic P/LP variants (1 frameshift deletion and 1 stopgain) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.; to: Additional 2 individuals reported with mono-allelic P/LP variants (1 frameshift deletion and 1 stopgain) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Cerebral Palsy v1.193 CREBBP Clare van Eyk reviewed gene: CREBBP: Rating: ; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Menke-Hennekam syndrome MIM#618332, Rubinstein-Taybi syndrome MIM#180849; Mode of inheritance: None
Cerebral Palsy v1.193 COL4A2 Clare van Eyk reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Brain small vessel disease 2 MIM# 614483; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral Palsy v1.193 COL4A1 Clare van Eyk reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Brain small vessel disease MIM#614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 CLCN7 Clare van Eyk gene: CLCN7 was added
gene: CLCN7 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: CLCN7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CLCN7 were set to PMID: 38693247
Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, MIM#175780; Osteopetrosis, autosomal recessive 4; OPTB4, MIM#602727
Review for gene: CLCN7 was set to RED
Added comment: 1 individual with homozygous splice variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Bi-allelic variants have been reported to cause osteopetrosis.
Sources: Literature
Cerebral Palsy v1.193 CHD7 Clare van Eyk gene: CHD7 was added
gene: CHD7 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD7 were set to PMID: 38693247
Phenotypes for gene: CHD7 were set to CHARGE syndrome, MIM#608892
Review for gene: CHD7 was set to AMBER
Added comment: 2 individuals with mono-allelic LOF variants (1 stopgain, 1 splicing) reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.193 CHD4 Clare van Eyk gene: CHD4 was added
gene: CHD4 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD4 were set to PMID: 38693247
Phenotypes for gene: CHD4 were set to Sifrim-Hitz-Weiss syndrome, MIM#617159
Review for gene: CHD4 was set to AMBER
Added comment: 2 individuals with mono-allelic missense variants reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.193 CHCHD10 Clare van Eyk gene: CHCHD10 was added
gene: CHCHD10 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHCHD10 were set to PMID: 38693247
Phenotypes for gene: CHCHD10 were set to Myopathy, isolated mitochondrial, MIM#616209
Review for gene: CHCHD10 was set to AMBER
Added comment: 1 individual with mono-allelic missense variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.193 CAMK2G Clare van Eyk gene: CAMK2G was added
gene: CAMK2G was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: CAMK2G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMK2G were set to PMID: 38693247
Phenotypes for gene: CAMK2G were set to Intellectual developmental disorder, autosomal dominant 59, MIM#618522
Review for gene: CAMK2G was set to AMBER
Added comment: 1 individual with mono-allelic missense variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.193 CAMK2B Clare van Eyk gene: CAMK2B was added
gene: CAMK2B was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMK2B were set to PMID: 38693247
Phenotypes for gene: CAMK2B were set to Intellectual developmental disorder, autosomal dominant 54, MIM#617799
Review for gene: CAMK2B was set to AMBER
Added comment: 1 individual with mono-allelic splice variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Cerebral Palsy v1.193 CACNA1G Clare van Eyk gene: CACNA1G was added
gene: CACNA1G was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1G were set to PMID: 38693247
Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087
Review for gene: CACNA1G was set to GREEN
Added comment: 5 individuals with mono-allelic LP missense variants reported in large-scale exome sequencing study (PMID: 38693247). Ataxia, spasticity and dystonia are reported features of SCA42ND.
Sources: Literature
Cerebral Palsy v1.193 CACNA1D Clare van Eyk gene: CACNA1D was added
gene: CACNA1D was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1D were set to PMID: 38693247; 23913001
Phenotypes for gene: CACNA1D were set to Primary aldosteronism, seizures and neurologic abnormalities; PASNA, MIM#615474
Mode of pathogenicity for gene: CACNA1D was set to Other
Review for gene: CACNA1D was set to AMBER
Added comment: 1 individual with mono-allelic LP missense variant reported in large-scale exome sequencing study (PMID: 38693247). No detailed clincal data.

1 individual described previously with cerebral palsy and a de novo heterozygous gain-of-function missense mutation (PMID: 23913001).
Sources: Literature
Severe Combined Immunodeficiency (absent T absent B cells) v1.7 NUDCD3 Peter McNaughton gene: NUDCD3 was added
gene: NUDCD3 was added to Severe Combined Immunodeficiency (absent T absent B cells). Sources: Literature
Mode of inheritance for gene: NUDCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDCD3 were set to PMID: 38787962
Phenotypes for gene: NUDCD3 were set to Severe combined immunodeficiency; omenn syndrome
Review for gene: NUDCD3 was set to GREEN
Added comment: Multiple familial cases from 4 unrelated consanguineous kindreds of South Asian origin presenting with SCID or Omenn syndrome. Extensive functional validation including knock in mouse model demonstrating impaired VDJ recombination.
Sources: Literature
Cerebral Palsy v1.193 CACNA1A Clare van Eyk reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Developmental and epileptic encephalopathy MIM#617106, Episodic ataxia MIM#108500, familial hemiplegic Migraine MIM#141500 and MIM#141500, Spinocerebellar ataxia MIM#183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 BSCL2 Clare van Eyk gene: BSCL2 was added
gene: BSCL2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BSCL2 were set to PMID: 38693247
Phenotypes for gene: BSCL2 were set to Spastic paraplegia 17, MIM#270685
Review for gene: BSCL2 was set to AMBER
Added comment: Single individual reported with mono-allelic LP frameshift deletion reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided.
Sources: Literature
Cerebral Palsy v1.193 AUTS2 Clare van Eyk reviewed gene: AUTS2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 ASXL3 Clare van Eyk reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247, PMID:33528536, PMID: 35863334; Phenotypes: Bainbridge-Ropers syndrome, MIM#615485; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5943 ROR2 Zornitza Stark Marked gene: ROR2 as ready
Intellectual disability syndromic and non-syndromic v0.5943 ROR2 Zornitza Stark Gene: ror2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5943 ROR2 Zornitza Stark Phenotypes for gene: ROR2 were changed from to Robinow syndrome, autosomal recessive, MIM#268310
Intellectual disability syndromic and non-syndromic v0.5942 ROR2 Zornitza Stark Publications for gene: ROR2 were set to 33937263, 32954672, 32172608
Cerebral Palsy v1.193 ATP6V1A Clare van Eyk gene: ATP6V1A was added
gene: ATP6V1A was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ATP6V1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP6V1A were set to PMID: 38693247
Phenotypes for gene: ATP6V1A were set to Developmental and epileptic encephalopathy 93, MIM#618012
Review for gene: ATP6V1A was set to AMBER
Added comment: 1 individual with mono-allelic LP missense variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clincal information not supplied. Spastic quadriparesis and dyskinesia are reported features of DEE93.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5941 ROR2 Zornitza Stark Publications for gene: ROR2 were set to
Cerebral Palsy v1.193 ATP1A3 Clare van Eyk edited their review of gene: ATP1A3: Added comment: Additional 5 individuals with mono-allelic LP missense variants reported in large-scale exome sequencing study (PMID: 38693247).; Changed publications: 33528536, 30542205, 38693247; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 ATP1A2 Clare van Eyk gene: ATP1A2 was added
gene: ATP1A2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A2 were set to PMID: 38693247
Phenotypes for gene: ATP1A2 were set to Alternating hemiplegia of childhood 1, MIM#104290
Review for gene: ATP1A2 was set to AMBER
Added comment: 1 individual with monoallelic missense variant reported in large-scale exome sequencing study. Detailed clinical data not provided.
Sources: Literature
Cerebral Palsy v1.193 ATL1 Clare van Eyk edited their review of gene: ATL1: Added comment: Additional 3 individuals with mono-allelic LP missense variants reported in large-scale exome sequencing study (PMID: 38693247).; Changed publications: PMID: 33528536, PMID: 34321325, PMID: 38693247
Intellectual disability syndromic and non-syndromic v0.5940 ROR2 Zornitza Stark Mode of inheritance for gene: ROR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5939 ROR2 Zornitza Stark reviewed gene: ROR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal recessive, MIM#268310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5939 SOX10 Zornitza Stark Marked gene: SOX10 as ready
Intellectual disability syndromic and non-syndromic v0.5939 SOX10 Zornitza Stark Gene: sox10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5939 SOX10 Zornitza Stark Phenotypes for gene: SOX10 were changed from to Peripheral demyelinating neuropathy Central demyelination, Waardenburg and Hirschsprung disease, OMIM #609136; Waardenburg syndrome, type 2E, with or without neurologic involvement (OMIM #611584)
Intellectual disability syndromic and non-syndromic v0.5938 SOX10 Zornitza Stark Publications for gene: SOX10 were set to
Intellectual disability syndromic and non-syndromic v0.5937 SOX10 Zornitza Stark Mode of inheritance for gene: SOX10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5936 SLC4A4 Zornitza Stark Marked gene: SLC4A4 as ready
Intellectual disability syndromic and non-syndromic v0.5936 SLC4A4 Zornitza Stark Gene: slc4a4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5936 SLC4A4 Zornitza Stark Mode of inheritance for gene: SLC4A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5935 SLC4A4 Zornitza Stark Mode of inheritance for gene: SLC4A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5934 SLC4A4 Zornitza Stark Publications for gene: SLC4A4 were set to
Intellectual disability syndromic and non-syndromic v0.5933 SLC4A4 Zornitza Stark Phenotypes for gene: SLC4A4 were changed from to Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278
Intellectual disability syndromic and non-syndromic v0.5932 SLX4 Zornitza Stark Marked gene: SLX4 as ready
Intellectual disability syndromic and non-syndromic v0.5932 SLX4 Zornitza Stark Gene: slx4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5932 SLX4 Zornitza Stark Phenotypes for gene: SLX4 were changed from to Fanconi anaemia, complementation group P, MIM# 613951
Intellectual disability syndromic and non-syndromic v0.5931 SLX4 Zornitza Stark Publications for gene: SLX4 were set to
Intellectual disability syndromic and non-syndromic v0.5930 SLX4 Zornitza Stark Mode of inheritance for gene: SLX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.193 ASXL3 Clare van Eyk Deleted their review
Intellectual disability syndromic and non-syndromic v0.5929 SLX4 Zornitza Stark Classified gene: SLX4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.5929 SLX4 Zornitza Stark Gene: slx4 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.193 ASXL3 Clare van Eyk edited their review of gene: ASXL3: Added comment: 1 additional individual with mono-allelic LOF (frameshift insertion) reported in large-scale exome sequencing study.; Changed publications: PMID: 38693247
Intellectual disability syndromic and non-syndromic v0.5928 SLX4 Zornitza Stark reviewed gene: SLX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group P, MIM# 613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5928 SCN8A Zornitza Stark Marked gene: SCN8A as ready
Intellectual disability syndromic and non-syndromic v0.5928 SCN8A Zornitza Stark Gene: scn8a has been classified as Green List (High Evidence).
Cerebral Palsy v1.193 ARID2 Clare van Eyk reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Coffin-Siris syndrome 6, MIM#617808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5928 SCN8A Zornitza Stark Phenotypes for gene: SCN8A were changed from to Developmental and epileptic encephalopathy 13, MIM# 614558
Intellectual disability syndromic and non-syndromic v0.5927 SCN8A Zornitza Stark Publications for gene: SCN8A were set to
Intellectual disability syndromic and non-syndromic v0.5926 SCN8A Zornitza Stark Mode of inheritance for gene: SCN8A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.193 ARID1B Clare van Eyk gene: ARID1B was added
gene: ARID1B was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARID1B were set to PMID: 38693247
Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome 1, MIM#135900
Review for gene: ARID1B was set to AMBER
Added comment: 1 individual with mono-allelic frameshift deletion and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5925 THRA Zornitza Stark Marked gene: THRA as ready
Intellectual disability syndromic and non-syndromic v0.5925 THRA Zornitza Stark Gene: thra has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5925 THRA Zornitza Stark Phenotypes for gene: THRA were changed from to Hypothyroidism congenital nongoitrous 6 (MIM 614450)
Intellectual disability syndromic and non-syndromic v0.5924 THRA Zornitza Stark Publications for gene: THRA were set to
Cerebral Palsy v1.193 AHDC1 Clare van Eyk reviewed gene: AHDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Xia-Gibbs syndrome, MIM#615829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5923 THRA Zornitza Stark Mode of inheritance for gene: THRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5922 SIX3 Zornitza Stark Marked gene: SIX3 as ready
Intellectual disability syndromic and non-syndromic v0.5922 SIX3 Zornitza Stark Gene: six3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5922 SIX3 Zornitza Stark Phenotypes for gene: SIX3 were changed from to Holoprosencephaly 2, autosomal dominant, MIM#157170
Intellectual disability syndromic and non-syndromic v0.5921 SIX3 Zornitza Stark Publications for gene: SIX3 were set to
Intellectual disability syndromic and non-syndromic v0.5920 SIX3 Zornitza Stark Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5919 SIX3 Zornitza Stark reviewed gene: SIX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 2, autosomal dominant, MIM#157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5919 SAMHD1 Zornitza Stark Marked gene: SAMHD1 as ready
Intellectual disability syndromic and non-syndromic v0.5919 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5919 SAMHD1 Zornitza Stark Phenotypes for gene: SAMHD1 were changed from to Aicardi-Goutieres syndrome 5, MIM# 612952
Intellectual disability syndromic and non-syndromic v0.5918 SAMHD1 Zornitza Stark Publications for gene: SAMHD1 were set to
Intellectual disability syndromic and non-syndromic v0.5917 SAMHD1 Zornitza Stark Mode of inheritance for gene: SAMHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5916 SCN2A Zornitza Stark Marked gene: SCN2A as ready
Intellectual disability syndromic and non-syndromic v0.5916 SCN2A Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5916 SCN2A Zornitza Stark Publications for gene: SCN2A were set to
Intellectual disability syndromic and non-syndromic v0.5915 SCN2A Zornitza Stark Phenotypes for gene: SCN2A were changed from to Developmental and epileptic encephalopathy 11, MIM# 613721
Intellectual disability syndromic and non-syndromic v0.5914 SCN2A Zornitza Stark Mode of inheritance for gene: SCN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5913 SCN2A Zornitza Stark Mode of inheritance for gene: SCN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5912 BMP4 Zornitza Stark Phenotypes for gene: BMP4 were changed from Microphthalmia, syndromic 6, MIM# 607932 to Microphthalmia, syndromic 6, MIM# 607932
Intellectual disability syndromic and non-syndromic v0.5911 BMP4 Zornitza Stark Marked gene: BMP4 as ready
Intellectual disability syndromic and non-syndromic v0.5911 BMP4 Zornitza Stark Gene: bmp4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5911 BMP4 Zornitza Stark Phenotypes for gene: BMP4 were changed from to Microphthalmia, syndromic 6, MIM# 607932
Intellectual disability syndromic and non-syndromic v0.5910 BMP4 Zornitza Stark Publications for gene: BMP4 were set to
Intellectual disability syndromic and non-syndromic v0.5909 BMP4 Zornitza Stark Mode of inheritance for gene: BMP4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5908 BMP4 Zornitza Stark edited their review of gene: BMP4: Changed publications: 31053785
Intellectual disability syndromic and non-syndromic v0.5908 BMP4 Zornitza Stark reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia, syndromic 6, MIM# 607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1797 CCIN Zornitza Stark Phenotypes for gene: CCIN were changed from male infertility with teratozoospermia due to single gene mutation, MONDO:0018394 to Spermatogenic failure 91, MIM# 620838
Mendeliome v1.1796 CCIN Zornitza Stark reviewed gene: CCIN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 91, MIM# 620838; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5908 CDON Zornitza Stark Marked gene: CDON as ready
Intellectual disability syndromic and non-syndromic v0.5908 CDON Zornitza Stark Gene: cdon has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5908 CDON Zornitza Stark Phenotypes for gene: CDON were changed from to holoprosencephaly 11 MONDO:0013642
Intellectual disability syndromic and non-syndromic v0.5907 CDON Zornitza Stark Publications for gene: CDON were set to
Intellectual disability syndromic and non-syndromic v0.5906 CDON Zornitza Stark Mode of inheritance for gene: CDON was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aminoacidopathy v1.47 GAD1 Zornitza Stark Marked gene: GAD1 as ready
Aminoacidopathy v1.47 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.47 GAD1 Zornitza Stark Phenotypes for gene: GAD1 were changed from obsolete early infantile epileptic encephalopathy MONDO:0016021 to Developmental and epileptic encephalopathy 89, MIM# 619124
Aminoacidopathy v1.46 GAD1 Zornitza Stark Classified gene: GAD1 as Green List (high evidence)
Aminoacidopathy v1.46 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.45 FMO3 Zornitza Stark Marked gene: FMO3 as ready
Aminoacidopathy v1.45 FMO3 Zornitza Stark Gene: fmo3 has been classified as Green List (High Evidence).
Aminoacidopathy v1.45 FMO3 Zornitza Stark Classified gene: FMO3 as Green List (high evidence)
Aminoacidopathy v1.45 FMO3 Zornitza Stark Gene: fmo3 has been classified as Green List (High Evidence).
Aminoacidopathy v1.44 FAH Zornitza Stark Marked gene: FAH as ready
Aminoacidopathy v1.44 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Aminoacidopathy v1.44 FAH Zornitza Stark Classified gene: FAH as Green List (high evidence)
Aminoacidopathy v1.44 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Aminoacidopathy v1.43 DNAJC12 Zornitza Stark Marked gene: DNAJC12 as ready
Aminoacidopathy v1.43 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Aminoacidopathy v1.43 DNAJC12 Zornitza Stark Publications for gene: DNAJC12 were set to 28132689, 30179615, 28892570, 28794131, 30139987
Aminoacidopathy v1.42 DNAJC12 Zornitza Stark Classified gene: DNAJC12 as Green List (high evidence)
Aminoacidopathy v1.42 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Aminoacidopathy v1.41 DMGDH Zornitza Stark Marked gene: DMGDH as ready
Aminoacidopathy v1.41 DMGDH Zornitza Stark Gene: dmgdh has been classified as Red List (Low Evidence).
Aminoacidopathy v1.41 DMGDH Zornitza Stark Classified gene: DMGDH as Red List (low evidence)
Aminoacidopathy v1.41 DMGDH Zornitza Stark Gene: dmgdh has been classified as Red List (Low Evidence).
Aminoacidopathy v1.40 DHTKD1 Zornitza Stark Marked gene: DHTKD1 as ready
Aminoacidopathy v1.40 DHTKD1 Zornitza Stark Gene: dhtkd1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.40 DHTKD1 Zornitza Stark Publications for gene: DHTKD1 were set to 26141459, 25860818, 23141293
Aminoacidopathy v1.39 DHTKD1 Zornitza Stark Classified gene: DHTKD1 as Green List (high evidence)
Aminoacidopathy v1.39 DHTKD1 Zornitza Stark Gene: dhtkd1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.38 CTH Zornitza Stark Marked gene: CTH as ready
Aminoacidopathy v1.38 CTH Zornitza Stark Gene: cth has been classified as Green List (High Evidence).
Aminoacidopathy v1.38 CTH Zornitza Stark Classified gene: CTH as Green List (high evidence)
Aminoacidopathy v1.38 CTH Zornitza Stark Gene: cth has been classified as Green List (High Evidence).
Aminoacidopathy v1.37 CPS1 Zornitza Stark Marked gene: CPS1 as ready
Aminoacidopathy v1.37 CPS1 Zornitza Stark Gene: cps1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.37 CPS1 Zornitza Stark Classified gene: CPS1 as Green List (high evidence)
Aminoacidopathy v1.37 CPS1 Zornitza Stark Gene: cps1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.36 CBS Zornitza Stark Marked gene: CBS as ready
Aminoacidopathy v1.36 CBS Zornitza Stark Gene: cbs has been classified as Green List (High Evidence).
Aminoacidopathy v1.36 CBS Zornitza Stark Classified gene: CBS as Green List (high evidence)
Aminoacidopathy v1.36 CBS Zornitza Stark Gene: cbs has been classified as Green List (High Evidence).
Aminoacidopathy v1.35 CA5A Zornitza Stark Marked gene: CA5A as ready
Aminoacidopathy v1.35 CA5A Zornitza Stark Gene: ca5a has been classified as Green List (High Evidence).
Aminoacidopathy v1.35 CA5A Zornitza Stark Publications for gene: CA5A were set to 24530203, 26913920, 23589845
Aminoacidopathy v1.34 CA5A Zornitza Stark Classified gene: CA5A as Green List (high evidence)
Aminoacidopathy v1.34 CA5A Zornitza Stark Gene: ca5a has been classified as Green List (High Evidence).
Aminoacidopathy v1.33 ASS1 Zornitza Stark Marked gene: ASS1 as ready
Aminoacidopathy v1.33 ASS1 Zornitza Stark Gene: ass1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.33 ASS1 Zornitza Stark Classified gene: ASS1 as Green List (high evidence)
Aminoacidopathy v1.33 ASS1 Zornitza Stark Gene: ass1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.32 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Aminoacidopathy v1.32 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.32 ALDH7A1 Zornitza Stark Publications for gene: ALDH7A1 were set to 19142996, 16491085, 22784480, 29053735
Aminoacidopathy v1.31 ALDH7A1 Zornitza Stark Classified gene: ALDH7A1 as Green List (high evidence)
Aminoacidopathy v1.31 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.30 ALDH4A1 Zornitza Stark Marked gene: ALDH4A1 as ready
Aminoacidopathy v1.30 ALDH4A1 Zornitza Stark Gene: aldh4a1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.30 ALDH4A1 Zornitza Stark Publications for gene: ALDH4A1 were set to 2624476, 13835167, 4369405, 8621661
Aminoacidopathy v1.29 ALDH4A1 Zornitza Stark Classified gene: ALDH4A1 as Green List (high evidence)
Aminoacidopathy v1.29 ALDH4A1 Zornitza Stark Gene: aldh4a1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.28 ALDH18A1 Zornitza Stark Marked gene: ALDH18A1 as ready
Aminoacidopathy v1.28 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.28 ALDH18A1 Zornitza Stark Publications for gene: ALDH18A1 were set to 32017139, 26026163, 26320891
Aminoacidopathy v1.27 ALDH18A1 Zornitza Stark Classified gene: ALDH18A1 as Green List (high evidence)
Aminoacidopathy v1.27 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.26 AHCY Zornitza Stark Marked gene: AHCY as ready
Aminoacidopathy v1.26 AHCY Zornitza Stark Gene: ahcy has been classified as Green List (High Evidence).
Aminoacidopathy v1.26 AHCY Zornitza Stark Publications for gene: AHCY were set to 13641268, 15024124, 16736098, 20852937, 22959829, 30121674, 26527160, 26095522, 27848944, 31957987, 35463910
Aminoacidopathy v1.25 AHCY Zornitza Stark Classified gene: AHCY as Green List (high evidence)
Aminoacidopathy v1.25 AHCY Zornitza Stark Gene: ahcy has been classified as Green List (High Evidence).
Aminoacidopathy v1.24 ADK Zornitza Stark Marked gene: ADK as ready
Aminoacidopathy v1.24 ADK Zornitza Stark Gene: adk has been classified as Green List (High Evidence).
Aminoacidopathy v1.24 ADK Zornitza Stark Publications for gene: ADK were set to 21963049, 26642971, 33309011, 27671891
Aminoacidopathy v1.23 ADK Zornitza Stark Classified gene: ADK as Green List (high evidence)
Aminoacidopathy v1.23 ADK Zornitza Stark Gene: adk has been classified as Green List (High Evidence).
Aminoacidopathy v1.22 ACY1 Zornitza Stark Marked gene: ACY1 as ready
Aminoacidopathy v1.22 ACY1 Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.22 ACY1 Zornitza Stark Publications for gene: ACY1 were set to 4997716, 24117009, 16465618, 17562838, 21414403, 16274666, 20480396
Aminoacidopathy v1.21 ACY1 Zornitza Stark Classified gene: ACY1 as Green List (high evidence)
Aminoacidopathy v1.21 ACY1 Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.20 GAMT Zornitza Stark Marked gene: GAMT as ready
Aminoacidopathy v1.20 GAMT Zornitza Stark Gene: gamt has been classified as Green List (High Evidence).
Aminoacidopathy v1.20 GAMT Zornitza Stark Classified gene: GAMT as Green List (high evidence)
Aminoacidopathy v1.20 GAMT Zornitza Stark Gene: gamt has been classified as Green List (High Evidence).
Aminoacidopathy v1.19 GATM Zornitza Stark Marked gene: GATM as ready
Aminoacidopathy v1.19 GATM Zornitza Stark Gene: gatm has been classified as Green List (High Evidence).
Aminoacidopathy v1.19 GATM Zornitza Stark Classified gene: GATM as Green List (high evidence)
Aminoacidopathy v1.19 GATM Zornitza Stark Gene: gatm has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5905 RBBP8 Zornitza Stark Marked gene: RBBP8 as ready
Intellectual disability syndromic and non-syndromic v0.5905 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5905 RBBP8 Zornitza Stark Phenotypes for gene: RBBP8 were changed from to Jawad syndrome, MIM#251255; Seckel syndrome 2, MIM#606744
Intellectual disability syndromic and non-syndromic v0.5904 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to
Intellectual disability syndromic and non-syndromic v0.5903 RBBP8 Zornitza Stark Mode of inheritance for gene: RBBP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5902 RBBP8 Zornitza Stark reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jawad syndrome, MIM#251255, Seckel syndrome 2, MIM#606744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.18 GATM Sangavi Sivagnanasundram gene: GATM was added
gene: GATM was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATM were set to 26490222; 23770102; 12468279; 27233232
Phenotypes for gene: GATM were set to AGAT deficiency MONDO:0012996
Review for gene: GATM was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 08/03/2019 - https://search.clinicalgenome.org/CCID:004930

AGAT deficiency is an inborn error of creatine metabolism.
Well established gene-disease association with evidence of segregation between affected individuals. LoF is the mechanism of disease
Sources: ClinGen
Mendeliome v1.1796 RBBP8 James The Deleted their review
Aminoacidopathy v1.18 GAMT Sangavi Sivagnanasundram gene: GAMT was added
gene: GAMT was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAMT were set to 20301745; 17466557; 16293431; 12701824; 2441567
Phenotypes for gene: GAMT were set to guanidinoacetate methyltransferase deficiency MONDO:0012999
Review for gene: GAMT was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 25/01/2019 - https://search.clinicalgenome.org/CCID:004917

Well established gene-disease association.
Reported as an inborn error of creatine metabolism.
The two most commonly reported variants are p.Trp20Ser (c.59G>C) and c.327G>A (p.Lys109=). Both variants are pathogenic on ClinVar (>2 stars) and is classified pathogenic by the ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel (FDA recognised database).
Sources: ClinGen
Intellectual disability syndromic and non-syndromic v0.5902 RBBP8 James The reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:30561437, 34270086, 32379725; Phenotypes: 606744, 251255, 113705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.18 GAD1 Sangavi Sivagnanasundram changed review comment from: Classified Definitive by ClinGen Aminoacidopathy GCEP on 13/05/2021 - https://search.clinicalgenome.org/CCID:004907

Established gene-disease association with multiple reported individuals having a metabolic abnormality. Mouse models were performed that recaptulated the human phenotype.
Sources: ClinGen; to: Classified Definitive by ClinGen Aminoacidopathy GCEP on 13/05/2021 - https://search.clinicalgenome.org/CCID:004907

Established gene-disease association with multiple reported individuals having a metabolic abnormality. Mouse models were performed that recapitulated the human phenotype.
Sources: ClinGen
Aminoacidopathy v1.18 GAD1 Sangavi Sivagnanasundram gene: GAD1 was added
gene: GAD1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAD1 were set to 28454995; 31144778; 32282878; 15571623; 32705143; 9177246; 9326630; 20333300
Phenotypes for gene: GAD1 were set to obsolete early infantile epileptic encephalopathy MONDO:0016021
Review for gene: GAD1 was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 13/05/2021 - https://search.clinicalgenome.org/CCID:004907

Established gene-disease association with multiple reported individuals having a metabolic abnormality. Mouse models were performed that recaptulated the human phenotype.
Sources: ClinGen
Aminoacidopathy v1.18 FMO3 Sangavi Sivagnanasundram gene: FMO3 was added
gene: FMO3 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FMO3 were set to 31317802; 28649550
Phenotypes for gene: FMO3 were set to trimethylaminuria MONDO:0011182
Review for gene: FMO3 was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 14/08/2020 - https://search.clinicalgenome.org/CCID:004868

Well established gene-disease assocation. Multiple reported individuals with an abnormality in trimethylamine metabolism.
Sources: ClinGen
Aminoacidopathy v1.18 FAH Sangavi Sivagnanasundram gene: FAH was added
gene: FAH was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAH were set to 20301688; 8318997; 7550234; 7942842; 2378356; 9095403; 26829318
Phenotypes for gene: FAH were set to tyrosinemia type I MONDO:0010161
Review for gene: FAH was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:004804

Typically present in young infants with abnormal liver function as FAH is mainly expressed in the liver.
Well established gene-disease association with multiple reported individuals having abnormal biochemical function of FAH.
LoF is the mechanism of disease. Gene Reviews reports many founder variants in different population.
Sources: ClinGen
Aminoacidopathy v1.18 DNAJC12 Sangavi Sivagnanasundram gene: DNAJC12 was added
gene: DNAJC12 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC12 were set to 28132689, 30179615, 28892570, 28794131, 30139987
Phenotypes for gene: DNAJC12 were set to hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0044304
Review for gene: DNAJC12 was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 11/01/2021 - https://search.clinicalgenome.org/CCID:004679

Biochemical abnormalities have been reported in at least 7 probands.
Sources: ClinGen
Aminoacidopathy v1.18 DMGDH Sangavi Sivagnanasundram gene: DMGDH was added
gene: DMGDH was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: DMGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMGDH were set to 11231903
Phenotypes for gene: DMGDH were set to dimethylglycine dehydrogenase deficiency MONDO:0011610
Review for gene: DMGDH was set to RED
Added comment: Classified Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022 - https://search.clinicalgenome.org/CCID:004660

Reported in one individual with abnormal choline metabolism.
Sources: ClinGen
Aminoacidopathy v1.18 DHTKD1 Sangavi Sivagnanasundram gene: DHTKD1 was added
gene: DHTKD1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHTKD1 were set to 26141459, 25860818, 23141293
Phenotypes for gene: DHTKD1 were set to 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774
Review for gene: DHTKD1 was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 03/11/2020 - https://search.clinicalgenome.org/CCID:004644

Reported in >10 probands with biochemical abnormalities. Mouse models and functional assays have been conducted that confirm LoF mechanism of disease.
Sources: ClinGen
Schwannomatosis v0.16 DGCR8 Andrew Fennell reviewed gene: DGCR8: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 34821987; Phenotypes: Early-onset multinodular goiter and schwannomatosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1796 DGCR8 Andrew Fennell reviewed gene: DGCR8: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 34821987; Phenotypes: Early-onset multinodular goiter and schwannomatosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5902 CDON Hali Van Niel reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: None; Publications: 21802063, 26728615, 31502381, 32729136, 26529631; Phenotypes: holoprosencephaly 11 MONDO:0013642; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aminoacidopathy v1.18 CTH Sangavi Sivagnanasundram gene: CTH was added
gene: CTH was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: CTH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTH were set to 20584029; 19428278; 12574942
Phenotypes for gene: CTH were set to cystathioninuria MONDO:0009058
Review for gene: CTH was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 14/06/2019 - https://search.clinicalgenome.org/CCID:004594

Inborn error of cystathionine gamma-lyase metabolism and has been reported in >5 affected individuals.
Sources: ClinGen
Intellectual disability syndromic and non-syndromic v0.5902 SAMD9 Zornitza Stark Marked gene: SAMD9 as ready
Intellectual disability syndromic and non-syndromic v0.5902 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Aminoacidopathy v1.18 CPS1 Sangavi Sivagnanasundram gene: CPS1 was added
gene: CPS1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPS1 were set to 9862865; 29801986; 27834067; 27150549; 22173106
Phenotypes for gene: CPS1 were set to carbamoyl phosphate synthetase I deficiency disease MONDO:0009376
Review for gene: CPS1 was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 12/10/2018 - https://search.clinicalgenome.org/CCID:004568

Well established gene-disease association. Reported individuals are deficient in CPS which affects their urea cycle. Classified as an inborn error of metabolism of the urea cycle.
Sources: ClinGen
Intellectual disability syndromic and non-syndromic v0.5902 SAMD9 Zornitza Stark Phenotypes for gene: SAMD9 were changed from MIRAGE Syndrome, MIM#617053 to MIRAGE Syndrome, MIM#617053
Intellectual disability syndromic and non-syndromic v0.5901 SAMD9 Zornitza Stark Phenotypes for gene: SAMD9 were changed from to MIRAGE Syndrome, MIM#617053
Intellectual disability syndromic and non-syndromic v0.5900 SAMD9 Zornitza Stark Publications for gene: SAMD9 were set to
Intellectual disability syndromic and non-syndromic v0.5899 SAMD9 Zornitza Stark Mode of inheritance for gene: SAMD9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5898 SAMD9 Zornitza Stark reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MIRAGE Syndrome, MIM#617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5898 BMP4 Hali Van Niel reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22581619, 31053785, 30568244, 18252212, 21340693, 34926457, 36140739, 37107605; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.121 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Inflammatory bowel disease v0.121 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.121 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Inflammatory bowel disease v0.120 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593
Inflammatory bowel disease v0.119 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.18 CBS Sangavi Sivagnanasundram gene: CBS was added
gene: CBS was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBS were set to 20301697; 18987302; 29398487
Phenotypes for gene: CBS were set to classic homocystinuria MONDO:0009352
Review for gene: CBS was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 12/04/2019 - https://search.clinicalgenome.org/CCID:004360

Well established gene-disease association. Multiple reported individuals and mouse models recapitulating the clinical phenotype. Classic homocystinuria is an inborn error of amino acid metabolism.
Sources: ClinGen
Intellectual disability syndromic and non-syndromic v0.5898 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Intellectual disability syndromic and non-syndromic v0.5898 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5898 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Intellectual disability syndromic and non-syndromic v0.5897 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593
Intellectual disability syndromic and non-syndromic v0.5896 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5895 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
IBMDx study v0.25 LIG4 Zornitza Stark Marked gene: LIG4 as ready
IBMDx study v0.25 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
IBMDx study v0.25 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
IBMDx study v0.24 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v1.113 LIG4 Zornitza Stark Publications for gene: LIG4 were set to 16088910; 9823897; 10911993; 15333585; 9809069, 12023982; 11040211; 15175260; 19451691; 17554302; 11779494
BabyScreen+ newborn screening v1.112 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Intellectual disability syndromic and non-syndromic v0.5894 SLC35A1 Zornitza Stark Marked gene: SLC35A1 as ready
Intellectual disability syndromic and non-syndromic v0.5894 SLC35A1 Zornitza Stark Gene: slc35a1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5894 SLC35A1 Zornitza Stark Phenotypes for gene: SLC35A1 were changed from to Congenital disorder of glycosylation, type IIf, MIM# 603585
Intellectual disability syndromic and non-syndromic v0.5893 SLC35A1 Zornitza Stark Publications for gene: SLC35A1 were set to
Intellectual disability syndromic and non-syndromic v0.5892 SLC35A1 Zornitza Stark Mode of inheritance for gene: SLC35A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5891 SLC35A1 Zornitza Stark Classified gene: SLC35A1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5891 SLC35A1 Zornitza Stark Gene: slc35a1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5890 SLC35A1 Zornitza Stark edited their review of gene: SLC35A1: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.5890 SLC35A1 Zornitza Stark changed review comment from: At least 3 families reported.; to: At least 3 families reported, neurological presentation in two.
Intellectual disability syndromic and non-syndromic v0.5890 SLC35A1 Zornitza Stark reviewed gene: SLC35A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28856833, 23873973, 11157507; Phenotypes: Congenital disorder of glycosylation, type IIf, MIM# 603585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.18 CA5A Sangavi Sivagnanasundram edited their review of gene: CA5A: Changed publications: 24530203, 26913920, 23589845, 25834911
Intellectual disability syndromic and non-syndromic v0.5890 LRPPRC Zornitza Stark Marked gene: LRPPRC as ready
Intellectual disability syndromic and non-syndromic v0.5890 LRPPRC Zornitza Stark Gene: lrpprc has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5890 LRPPRC Zornitza Stark Phenotypes for gene: LRPPRC were changed from to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM#220111
Aminoacidopathy v1.18 CA5A Sangavi Sivagnanasundram gene: CA5A was added
gene: CA5A was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA5A were set to 24530203, 26913920, 23589845
Phenotypes for gene: CA5A were set to hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0014332
Review for gene: CA5A was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 10/09/2018 - https://search.clinicalgenome.org/CCID:004309

Reported in >10 probands with biochemical abnormalities (inborn error of metabolism)
Sources: ClinGen
Intellectual disability syndromic and non-syndromic v0.5889 LRPPRC Zornitza Stark Publications for gene: LRPPRC were set to
Intellectual disability syndromic and non-syndromic v0.5888 LRPPRC Zornitza Stark Mode of inheritance for gene: LRPPRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5887 LRPPRC Zornitza Stark reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM#220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.18 ASS1 Sangavi Sivagnanasundram gene: ASS1 was added
gene: ASS1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASS1 were set to 19006241
Phenotypes for gene: ASS1 were set to citrullinemia type I MONDO:0008988
Review for gene: ASS1 was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 27/12/2018 - https://search.clinicalgenome.org/CCID:004190

Well-established gene-disease association. Reported individuals present with inborn error of argininosuccinate synthetase metabolism.
Sources: ClinGen
Monogenic Diabetes v0.134 NEUROG3 Zornitza Stark Marked gene: NEUROG3 as ready
Monogenic Diabetes v0.134 NEUROG3 Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.134 NEUROG3 Zornitza Stark Phenotypes for gene: NEUROG3 were changed from to congenital malabsorptive diarrhea 4 MONDO:0012479
Aminoacidopathy v1.18 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Aminoacidopathy v1.18 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.18 ARG1 Zornitza Stark Publications for gene: ARG1 were set to 16747805, 23859858, 1463019, 1598908, 12052859, 23920045
Aminoacidopathy v1.17 ARG1 Zornitza Stark Classified gene: ARG1 as Green List (high evidence)
Aminoacidopathy v1.17 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.16 AMT Zornitza Stark Marked gene: AMT as ready
Aminoacidopathy v1.16 AMT Zornitza Stark Gene: amt has been classified as Green List (High Evidence).
Aminoacidopathy v1.16 AMT Zornitza Stark Publications for gene: AMT were set to 27362913, 8005589, 25231368, 26179960, 26371980, 27164344, 6863283, 18941301
Aminoacidopathy v1.15 AMT Zornitza Stark Classified gene: AMT as Green List (high evidence)
Aminoacidopathy v1.15 AMT Zornitza Stark Gene: amt has been classified as Green List (High Evidence).
Aminoacidopathy v1.14 ASL Zornitza Stark Marked gene: ASL as ready
Aminoacidopathy v1.14 ASL Zornitza Stark Gene: asl has been classified as Green List (High Evidence).
Aminoacidopathy v1.14 ASL Zornitza Stark Publications for gene: ASL were set to 2263616, 17326097, 19703900, 12559843, 22081021
Aminoacidopathy v1.13 ASL Zornitza Stark Classified gene: ASL as Green List (high evidence)
Aminoacidopathy v1.13 ASL Zornitza Stark Gene: asl has been classified as Green List (High Evidence).
Monogenic Diabetes v0.133 INS Zornitza Stark Marked gene: INS as ready
Monogenic Diabetes v0.133 INS Zornitza Stark Gene: ins has been classified as Green List (High Evidence).
Monogenic Diabetes v0.133 INS Zornitza Stark Phenotypes for gene: INS were changed from Diabetes mellitus, insulin-dependent, 2, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Diabetes mellitus, type 1, 125852; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); MODY10; Maturity Onset Diabetes of the Young; Permanent Neonatal diabetes mellitus to diabetes mellitus, permanent neonatal 4 MONDO:0030089; maturity-onset diabetes of the young type 10 MONDO:0013240
Monogenic Diabetes v0.132 INS Zornitza Stark Publications for gene: INS were set to
Aminoacidopathy v1.12 ASNS Zornitza Stark Marked gene: ASNS as ready
Aminoacidopathy v1.12 ASNS Zornitza Stark Gene: asns has been classified as Green List (High Evidence).
Aminoacidopathy v1.12 ASNS Zornitza Stark Publications for gene: ASNS were set to 29375865, 25663424, 25227173, 29405484, 28776279, 30315573
Aminoacidopathy v1.11 ASNS Zornitza Stark Classified gene: ASNS as Green List (high evidence)
Aminoacidopathy v1.11 ASNS Zornitza Stark Gene: asns has been classified as Green List (High Evidence).
Monogenic Diabetes v0.131 INSR Zornitza Stark Marked gene: INSR as ready
Monogenic Diabetes v0.131 INSR Zornitza Stark Gene: insr has been classified as Green List (High Evidence).
Monogenic Diabetes v0.131 INSR Zornitza Stark Phenotypes for gene: INSR were changed from Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Hyperinsulinemic hypoglycemia, familial, 5, 609968; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Leprechaunism, 246200; OMIM 610549; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Rabson-Mendenhall syndrome, 262190 to insulin-resistance syndrome type A MONDO:0012520; Rabson-Mendenhall syndrome MONDO:0009874; Donohue syndrome MONDO:0009517
Monogenic Diabetes v0.130 INSR Zornitza Stark Publications for gene: INSR were set to 8288049
Aminoacidopathy v1.10 AGA Zornitza Stark reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Canavan disease MONDO:0010079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.10 AGA Zornitza Stark Marked gene: AGA as ready
Aminoacidopathy v1.10 AGA Zornitza Stark Gene: aga has been classified as Green List (High Evidence).
Aminoacidopathy v1.10 AGA Zornitza Stark Classified gene: AGA as Green List (high evidence)
Aminoacidopathy v1.10 AGA Zornitza Stark Gene: aga has been classified as Green List (High Evidence).
Monogenic Diabetes v0.129 GATA6 Zornitza Stark Marked gene: GATA6 as ready
Monogenic Diabetes v0.129 GATA6 Zornitza Stark Gene: gata6 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.129 GATA6 Zornitza Stark Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes); PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS to pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0010802
Intellectual disability syndromic and non-syndromic v0.5887 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Intellectual disability syndromic and non-syndromic v0.5887 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5887 TREX1 Zornitza Stark Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome MONDO:0018866
Intellectual disability syndromic and non-syndromic v0.5886 TREX1 Zornitza Stark Publications for gene: TREX1 were set to
Intellectual disability syndromic and non-syndromic v0.5885 TREX1 Zornitza Stark Mode of inheritance for gene: TREX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5884 SERAC1 Zornitza Stark Marked gene: SERAC1 as ready
Intellectual disability syndromic and non-syndromic v0.5884 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5884 SERAC1 Zornitza Stark Phenotypes for gene: SERAC1 were changed from to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL), MIM#614739
Intellectual disability syndromic and non-syndromic v0.5883 SERAC1 Zornitza Stark Publications for gene: SERAC1 were set to
Intellectual disability syndromic and non-syndromic v0.5883 SERAC1 Zornitza Stark Mode of inheritance for gene: SERAC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5882 SERAC1 Zornitza Stark Mode of inheritance for gene: SERAC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5881 SERAC1 Zornitza Stark reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24741715, 37711114, 37090937, 28916646, 32684373; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL), MIM#614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.63 TAPBP Zornitza Stark Phenotypes for gene: TAPBP were changed from Bare lymphocyte syndrome, type I, MIM# 604571 to Bare lymphocyte syndrome, type I, MIM# 604571; MHC class I deficiency 3, MIM# 620814
Combined Immunodeficiency v1.62 TAPBP Zornitza Stark edited their review of gene: TAPBP: Changed phenotypes: Bare lymphocyte syndrome, type I, MIM# 604571, MHC class I deficiency 3, MIM# 620814
Mendeliome v1.1796 TAPBP Zornitza Stark Phenotypes for gene: TAPBP were changed from Bare lymphocyte syndrome, type I, MIM# 604571 to Bare lymphocyte syndrome, type I, MIM# 604571; MHC class I deficiency 3, MIM# 620814
Mendeliome v1.1795 TAPBP Zornitza Stark edited their review of gene: TAPBP: Changed phenotypes: Bare lymphocyte syndrome, type I, MIM# 604571, MHC class I deficiency 3, MIM# 620814
Combined Immunodeficiency v1.62 TAP2 Zornitza Stark Phenotypes for gene: TAP2 were changed from Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis to MHC class I deficiency 2, MIM# 620813; Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis
Mendeliome v1.1795 TAP2 Zornitza Stark Phenotypes for gene: TAP2 were changed from Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis to MHC class I deficiency 2, MIM# 620813; Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis
Intellectual disability syndromic and non-syndromic v0.5881 TREX1 Hali Van Niel changed review comment from: Established gene disease association with Aicardi-Goutières Syndrome
Heterogeneity with variable phenotype, ranges from preserved cognition to severe intellectual disability
TREX1-related Aicardi Goutières syndrome have higher impairment (31559893)
ID common presenting feature (PMID: 25604658); to: Established gene disease association with Aicardi-Goutières Syndrome
Heterogeneity with variable phenotype, ranges from preserved cognition to severe intellectual disability
TREX1-related Aicardi Goutières syndrome have higher impairment (PMID: 31559893)
ID common presenting feature (PMID: 25604658)
Intellectual disability syndromic and non-syndromic v0.5881 TREX1 Hali Van Niel edited their review of gene: TREX1: Changed publications: 25604658, 16845398, 17357087, 31559893
Intellectual disability syndromic and non-syndromic v0.5881 TREX1 Hali Van Niel reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25604658, 16845398, 17357087; Phenotypes: Aicardi-Goutieres syndrome MONDO:0018866; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v0.128 EIF2AK3 Zornitza Stark Marked gene: EIF2AK3 as ready
Monogenic Diabetes v0.128 EIF2AK3 Zornitza Stark Gene: eif2ak3 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.128 EIF2AK3 Zornitza Stark Phenotypes for gene: EIF2AK3 were changed from Wolcott-Rallison syndrome; Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus to Wolcott-Rallison syndrome MONDO:0009192; neonatal diabetes mellitus MONDO:0016391
Monogenic Diabetes v0.127 EIF2AK3 Zornitza Stark Publications for gene: EIF2AK3 were set to 19837917
Monogenic Diabetes v0.126 GATA4 Zornitza Stark Marked gene: GATA4 as ready
Monogenic Diabetes v0.126 GATA4 Zornitza Stark Gene: gata4 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.126 GATA4 Zornitza Stark Phenotypes for gene: GATA4 were changed from to neonatal diabetes mellitus MONDO:0016391
Monogenic Diabetes v0.125 GATA4 Zornitza Stark reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal diabetes mellitus MONDO:0016391; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.125 GATA4 Hali Van Niel reviewed gene: GATA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24696446, 20854389; Phenotypes: neonatal diabetes mellitus MONDO:0016391; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.125 GATA6 Hali Van Niel reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20581743, 22962692, 32524025, 28049534; Phenotypes: pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0010802; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aminoacidopathy v1.9 AGA Sangavi Sivagnanasundram gene: AGA was added
gene: AGA was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGA were set to 8252036, 20301412
Phenotypes for gene: AGA were set to Canavan disease MONDO:0010079
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 08/10/2020 - https://search.clinicalgenome.org/CCID:004188

Canavan disease is most prevalent in the AJ population however has been reported in other individuals as well. The most common variants in AJ population are p.Glu285Ala and p.Tyr231Ter (PMID:8252036). The most common variant reported in the non-Jewish population is p.Ala305Glu (PMID:20301412). All variants have been reported as pathogenic on ClinVar with at least 2/4 stars.

Variants have been reported in >10 individuals with elevated N-acetylaspartic acid (NAA) levels and LoF is the mechanism of disease.
Sources: ClinGen
Monogenic Diabetes v0.125 INSR Hali Van Niel reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 34965699, 8288049, 28765322; Phenotypes: insulin-resistance syndrome type A MONDO:0012520, Rabson-Mendenhall syndrome MONDO:0009874, Donohue syndrome MONDO:0009517; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Aminoacidopathy v1.9 ASNS Sangavi Sivagnanasundram gene: ASNS was added
gene: ASNS was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASNS were set to 29375865, 25663424, 25227173, 29405484, 28776279, 30315573
Phenotypes for gene: ASNS were set to congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0014258
Review for gene: ASNS was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:004187

Well established gene-disease association. Individuals have been reported with an inborn error of asparagine synthetase metabolism.
Sources: ClinGen
Monogenic Diabetes v0.125 INS Hali Van Niel reviewed gene: INS: Rating: GREEN; Mode of pathogenicity: None; Publications: 17855560, 18451997, 18162506, 18192540, 32034745, 30182532; Phenotypes: diabetes mellitus, permanent neonatal 4 MONDO:0030089, maturity-onset diabetes of the young type 10 MONDO:0013240; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Aminoacidopathy v1.9 ASL Sangavi Sivagnanasundram gene: ASL was added
gene: ASL was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASL were set to 2263616, 17326097, 19703900, 12559843, 22081021
Phenotypes for gene: ASL were set to argininosuccinic aciduria MONDO:0008815
Review for gene: ASL was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 15/09/2018 - https://search.clinicalgenome.org/CCID:004186

Established gene-disease association with reported individuals having an inborn error of argininosuccinate lyase metabolism.
Sources: ClinGen
Monogenic Diabetes v0.125 INSR Hali Van Niel Deleted their review
Monogenic Diabetes v0.125 INSR Hali Van Niel Deleted their comment
Monogenic Diabetes v0.125 INSR Hali Van Niel reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 17855560, 18451997, 18162506, 18192540, 32034745, 30182532; Phenotypes: diabetes mellitus, permanent neonatal 4 MONDO:0030089, maturity-onset diabetes of the young type 10 MONDO:0013240; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Aminoacidopathy v1.9 AMT Sangavi Sivagnanasundram edited their review of gene: AMT: Changed rating: GREEN
Aminoacidopathy v1.9 ARG1 Sangavi Sivagnanasundram gene: ARG1 was added
gene: ARG1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 16747805, 23859858, 1463019, 1598908, 12052859, 23920045
Phenotypes for gene: ARG1 were set to hyperargininemia MONDO:0008814
Review for gene: ARG1 was set to GREEN
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:004163

Reported in >5 unrelated probands with manifestations of hyperammonemia and hyperargininemia. It is an inborn error of L-arginine metabolism.
Two knock out mouse models have been conducted attesting to the LoF mechanism of disease.
Sources: ClinGen
Monogenic Diabetes v0.125 NEUROG3 Hali Van Niel reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32574610; Phenotypes: congenital malabsorptive diarrhea 4 MONDO:0012479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.9 AMT Sangavi Sivagnanasundram gene: AMT was added
gene: AMT was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMT were set to 27362913, 8005589, 25231368, 26179960, 26371980, 27164344, 6863283, 18941301
Phenotypes for gene: AMT were set to glycine encephalopathy MONDO:0011612
Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 24/05/2019 - https://search.clinicalgenome.org/CCID:004120

Established gene-disease association with around 15-20% of the reported individuals having glycine encephalopathy (inborn error of glycine metabolism). LoF is the mechanism of disease that has been supported by biochemical functional assays (PMID: 6863283, 18941301)
Sources: ClinGen
Intellectual disability syndromic and non-syndromic v0.5881 LRPPRC Kirsty Choi reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21266382, 8392290, 8392291, 26510951; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), 220111, developmental delay, hypotonia, mild facial dysmorphism, chronic well-compensated metabolic acidosis, high mortality due to episodes of severe acidosis and coma, hypertension, cerebrospinal fluid lactate levels, decreased blood bicarbonate levels, microvesicular steatosis, psychomotor delay, ataxia, hypotonia, transient tachypnea of the newborn, poor sucking, tremor, hypoglycemia, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5881 SLC35A1 Anissa Johnson changed review comment from: PMID: 23873973: 1 patient identified, homozygous with a variant in SLC35A1. Parents were heterozygous for the variant. Presented with "intellectual disability, seizures, ataxia, macrothrombocytopaenia, renal and cardiac involvement, and abnormal protein glycosylation". Biochemical assay showed "combined N- and O-glycosylation abnormalities and specific reduction in sialylation".
AR inheritance.; to: PMID: 23873973: 1 patient identified, homozygous with a variant in SLC35A1. Parents, consanguineous, were heterozygous for the variant. Presented with "intellectual disability, seizures, ataxia, macrothrombocytopaenia, renal and cardiac involvement, and abnormal protein glycosylation". Biochemical assay showed "combined N- and O-glycosylation abnormalities and specific reduction in sialylation".
AR inheritance.
Intellectual disability syndromic and non-syndromic v0.5881 SLC35A1 Anissa Johnson changed review comment from: PMID: 23873973: 1 patient identified, homozygous with a variant in SLC35A1. Parents were heterozygous for the variant. Presented with "intellectual disability, seizures, ataxia, macrothrombocytopaenia, renal and cardiac involvement, and abnormal protein glycosylation". Biochemical assay showed "combined N- and O-glycosylation abnormalities and specific reduction in sialylation".; to: PMID: 23873973: 1 patient identified, homozygous with a variant in SLC35A1. Parents were heterozygous for the variant. Presented with "intellectual disability, seizures, ataxia, macrothrombocytopaenia, renal and cardiac involvement, and abnormal protein glycosylation". Biochemical assay showed "combined N- and O-glycosylation abnormalities and specific reduction in sialylation".
AR inheritance.
Intellectual disability syndromic and non-syndromic v0.5881 SLC35A1 Anissa Johnson commented on gene: SLC35A1: PMID: 23873973: 1 patient identified, homozygous with a variant in SLC35A1. Parents were heterozygous for the variant. Presented with "intellectual disability, seizures, ataxia, macrothrombocytopaenia, renal and cardiac involvement, and abnormal protein glycosylation". Biochemical assay showed "combined N- and O-glycosylation abnormalities and specific reduction in sialylation".
Intellectual disability syndromic and non-syndromic v0.5881 SLC35A1 Anissa Johnson reviewed gene: SLC35A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23873973; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 500+ v1.0 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v1.111 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302, 11779494; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.6 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
IBMDx study v0.23 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302, 11779494; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.245 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 15333585, 20133615, 32534991, 11779494, 16088910; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v1.76 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, , images, related citations] [Full Text] 15175260, 19451691, 17554302; Phenotypes: LIG4 syndrome, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.278 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302; Phenotypes: LIG4 syndrome, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.109 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982; Phenotypes: lIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5881 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302; Phenotypes: lIG4 syndrome, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency (absent T absent B cells) v1.7 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302; Phenotypes: LIG4 syndrome, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.186 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v1.61 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302, 11779494, 10395545; Phenotypes: LIG4, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: None
Microcephaly v1.260 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16357942, 32534991, 32471509, 11779494, 16088910, 15333585; Phenotypes: LIG4 syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1794 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.118 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 10911993, 15333585, 9809069, 12023982, 11040211; Phenotypes: LIG4 Syndrome, Multiple Myeloma, Resistance to; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5881 SAMD9 Raluca Rusu reviewed gene: SAMD9: Rating: RED; Mode of pathogenicity: Other; Publications: PMID: 27182967, 34659124, 32194975, 29175836, 37195360, 30900330, 37745698; Phenotypes: MIRAGE Syndrome, MIM#617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Chromosome Breakage Disorders v1.19 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.366 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069; Phenotypes: LIG4 syndrome, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.91 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, DNA ligase IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.5881 SCN2A sabitha sateesh reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31230762, 31904126, 28256214, 31904120, 31924505, 31205438, 1325650, 17021166; Phenotypes: Intellectual disability, autism, motor delay, epileptic seizures, uncoordinated oral movements, gastrointestinal disturbances, sleep problems.; Mode of inheritance: Unknown; Current diagnostic: yes
Bone Marrow Failure v1.91 GATA1 Santosh Varughese reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 14656875; Phenotypes: Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bone Marrow Failure v1.91 GALE Santosh Varughese reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30247636' 34159722, 36395340; Phenotypes: Thrombocytopenia 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 G6PC3 Santosh Varughese reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19118303, 20799326, 25492228, 17318259, 20616219; Phenotypes: Neutropaenia, severe congenital 4, autosomal recessive, Dursun syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCL Santosh Varughese reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19405097, 25754594, 33394227, 33224012; Phenotypes: Fanconi anemia, complementation group L; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCI Santosh Varughese reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17452773; Phenotypes: Fanconi anemia, complementation group I; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCG Santosh Varughese reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 9806548, 12552564; Phenotypes: Fanconi anaemia, complementation group G; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCF Santosh Varughese reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 10615118, 31288759; Phenotypes: Fanconi anaemia, complementation group F; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCE Santosh Varughese reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 11001585, 31586946, 7662964, 9382107, 9147877, 10205272; Phenotypes: Fanconi anaemia, complementation group E; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCD2 Santosh Varughese reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17436244; Phenotypes: Fanconi anaemia, complementation group D2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCC Santosh Varughese reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 31044565, 30792206, 28717661; Phenotypes: Fanconi anemia, complementation group C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCB Santosh Varughese reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 15502827; Phenotypes: Fanconi anaemia, complementation group B; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCA Santosh Varughese reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 ETV6 Santosh Varughese reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25581430, 25807284; Phenotypes: Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Bone Marrow Failure v1.91 ERCC6L2 Santosh Varughese reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 24507776, 27185855; Phenotypes: Bone marrow failure syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 ERCC4 Santosh Varughese reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23623386; Phenotypes: Fanconi anemia, complementation group Q; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 ELANE Santosh Varughese reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19036076, 3124897, 33968054; Phenotypes: Neutropaenia, severe congenital 1, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Bone Marrow Failure v1.91 EFL1 Santosh Varughese reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28331068, 31151987; Phenotypes: Shwachman-Diamond syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 DUT Santosh Varughese reviewed gene: DUT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28073829, 35611808; Phenotypes: Bone marrow failure and diabetes mellitus syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 DNASE2 Santosh Varughese reviewed gene: DNASE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29259162, 31775019; Phenotypes: Autoinflammatory-pancytopenia syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 DNAJC21 Santosh Varughese reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: None; Publications: 29700810, 28062395, 27346687; Phenotypes: Bone marrow failure syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 DKC1 Santosh Varughese reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31269755, 26951492, 29081935, 25940403; Phenotypes: Dyskeratosis congenita, X-linked 305000, Hoyeraal-Hreidarsson Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.5881 SAMHD1 Reetoo Ramessur reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301648, 29239743, 25246298, 19525956, 21102625, 33307271, 35418820; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.91 DDX41 Santosh Varughese reviewed gene: DDX41: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 10607561, 26712909, 25920683; Phenotypes: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Bone Marrow Failure v1.91 DCLRE1B Santosh Varughese reviewed gene: DCLRE1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 10699141, 20479256, 35007328; Phenotypes: Dyskeratosis congenita, autosomal recessive 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 CTC1 Santosh Varughese reviewed gene: CTC1: Rating: ; Mode of pathogenicity: None; Publications: 22267198, 22387016; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 CSF3R Santosh Varughese reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: None; Publications: 24753537, 26324699, 33511998, 32966608; Phenotypes: Neutropaenia, severe congenital, 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 CLPB Santosh Varughese reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 34115842, 25597510, 25597511; Phenotypes: 3-@METHYLGLUTACONIC ACIDURIA, TYPE VIIB, 3-@METHYLGLUTACONIC ACIDURIA, TYPE VIIA, NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 CDAN1 Santosh Varughese reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 32518175; Phenotypes: Dyserythropoietic anemia, congenital, type Ia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 C15orf41 Santosh Varughese reviewed gene: C15orf41: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23716552, 32293259, 31191338, 29885034; Phenotypes: Dyserythropoietic anemia, congenital, type Ib; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Aminoacidopathy v1.9 ALDH7A1 Sangavi Sivagnanasundram gene: ALDH7A1 was added
gene: ALDH7A1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH7A1 were set to 19142996, 16491085, 22784480, 29053735
Phenotypes for gene: ALDH7A1 were set to pyridoxine-dependent epilepsy MONDO:0009945
Review for gene: ALDH7A1 was set to GREEN
Added comment: Classified Definitive on 26/07/2019 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004097

Reported in 10 individuals and functional evidence supporting the gene-disease association.
Sources: ClinGen
Bone Marrow Failure v1.91 BRIP1 Santosh Varughese reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 27107905; Phenotypes: Fanconi anaemia, complementation group J; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 BRCA2 Santosh Varughese reviewed gene: BRCA2: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16825431; Phenotypes: Fanconi anaemia, complementation group D1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 BRCA1 Santosh Varughese reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23269703, 29133208, 25472942, 29712865; Phenotypes: Fanconi anemia, complementation group S; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 ANKRD26 Santosh Varughese reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: Thrombocytopaenia 2; Phenotypes: 21211618; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Bone Marrow Failure v1.91 ALAS2 Santosh Varughese reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 10029606; Phenotypes: Anemia, sideroblastic, 1; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bone Marrow Failure v1.91 AK2 Santosh Varughese reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19043417, 19043416; Phenotypes: Reticular dysgenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Aminoacidopathy v1.9 ALDH4A1 Sangavi Sivagnanasundram gene: ALDH4A1 was added
gene: ALDH4A1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH4A1 were set to 2624476, 13835167, 4369405, 8621661
Phenotypes for gene: ALDH4A1 were set to hyperprolinemia type 2 MONDO:0009401
Review for gene: ALDH4A1 was set to GREEN
Added comment: Classified Definitive on 23/10/2020 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004094

Well reported gene-disease association in individuals with abnormal biochemistry. Most individuals present with elevated P5C levels
Sources: ClinGen
Bone Marrow Failure v1.91 ADA2 Santosh Varughese edited their review of gene: ADA2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.91 ACD Santosh Varughese edited their review of gene: ACD: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v1.91 ADH5 Santosh Varughese reviewed gene: ADH5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33147438; Phenotypes: AMED syndrome, digenic, Aplastic anaemia, myelodysplasia, short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 ADA2 Santosh Varughese reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25075847, 30406060, 12804991, 24552285, 10756095, 31652311, 26867732, 15926889, 20147294, 24552284; Phenotypes: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME, SNEDDON SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Heterotaxy v1.32 ARL2BP Andrew Fennell reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38649918, 36507858; Phenotypes: Retinitis pigmentosa with or without situs inversus MIM#615434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.91 ACTB Santosh Varughese reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 32170967, 24458642, 28347698, 28487785, 29220674, 11311002, 23756437, 2837653, 31970217, 10928857, 12325076; Phenotypes: Dystonia-Deafness Syndrome 1, Baraitser-Winter Syndrome 1, Becker Nevus Syndrome and Becker Nevi, Congenital Smooth Muscle Hamartoma with or without Hemihypertrophy, Thrombocytopenia 8 with Dysmorphic Features and Developmental Delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Bone Marrow Failure v1.91 ACD Santosh Varughese reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25205116, 15537664, 25233904, 15181449, 18535244, 23103865, 17237768, 17237767, 15231715; Phenotypes: Dyskeratosis Congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.5881 SIX3 Laura Mazurkijevic reviewed gene: SIX3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20531442, 19346217, 20157829, 15635066; Phenotypes: Holoprosencephaly 2, autosomal dominant, MIM#157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5881 THRA Hnin Aung changed review comment from: Over 10 sequence variants (including truncating nonsense and frameshift as well as missense) have been reported in the literature in association with consistent phenotype of mild hypothyroidism (growth retardation, relatively high birth length and weight, mild-to-moderate mental retardation, mild skeletal dysplasia, delayed dentition and constipation) and specific facial features. Milder outcomes for missense variants and more severe phenotype manifestation for truncating variants have been observed.

Most of the variants are located in the last exon of the THRA isoform 1 (NM_199334.5; a shorter isoform) affecting the C-terminal ligand binding domain with nonsense and frameshift variants predicted to escape nonsense mediated decay. These variants are either de novo or inherited from an affected parent. A few pedigrees are also available with segregation data. Truncating variants appear to have near complete penetrance whereas missense variants may be associated with variable expressivity (Family C - PMID: 27144938).

Functional evidence suggests altered gene product with possible dominant negative effect (PMID: 22168587, 28471274). Knock in mouse model available for E403X presenting with similar phenotype as seen in the human patients, including growth retardation and variable presentation of psychomotor deficit (PMID: 32924834). A small number THRA sequence variant (missense) reported among autism cohort [PMID: 28856816, 25621899].; to: Over 10 sequence variants (including truncating nonsense and frameshift as well as missense) have been reported in the literature in association with consistent phenotype of mild hypothyroidism (growth retardation, relatively high birth length and weight, mild-to-moderate mental retardation, mild skeletal dysplasia, delayed dentition and constipation) and specific facial features. Milder outcomes for missense variants and more severe phenotype manifestations for truncating variants have been observed.

Most of the variants are located in the last exon of the THRA isoform 1 (NM_199334.5; a shorter isoform) affecting the C-terminal ligand binding domain with nonsense and frameshift variants predicted to escape nonsense mediated decay. These variants are either de novo or inherited from an affected parent. A few pedigrees are also available with segregation data. Truncating variants appear to have near complete penetrance whereas missense variants may be associated with variable expressivity (Family C - PMID: 27144938).

Functional evidence suggests altered gene product with possible dominant negative effect (PMID: 22168587, 28471274). Knock in mouse model available for E403X presenting with similar phenotype as seen in the human patients, including growth retardation and variable presentation of psychomotor deficit (PMID: 32924834). A small number THRA sequence variant (missense) reported among autism cohort [PMID: 28856816, 25621899].
Intellectual disability syndromic and non-syndromic v0.5881 THRA Hnin Aung changed review comment from: Over 10 sequence variants (including truncating nonsense and frameshift as well as missense) have been reported in the literature in association with consistent phenotype of mild hypothyroidism (growth retardation, relatively high birth length and weight, mild-to-moderate mental retardation, mild skeletal dysplasia, delayed dentition and constipation) and specific facial features. Milder outcomes for missense variants and more severe phenotype manifestation for truncating variants have been observed.

Most of the variants are located in the last exon of the THRA isoform 1 (NM_199334.5; a shorter isoform) affecting the C-terminal ligand binding domain with nonsense and frameshift variants predicted to escape nonsense mediated decay. These variants are either de novo or inherited from an affected parent. A few pedigrees are also available with segregation data. Truncating variants appear to have near complete penetrance whereas missense variants may be associated with variable expressivity (Family C - PMID: 27144938).

Functional evidence suggests altered gene product with possible dominant negative effect (PMID: 22168587, 28471274). Knock in mouse model available for E403X presenting with similar phenotype as seen in the human patients, including growth retardation and variable presentation of psychomotor deficit (PMID: 32924834). A small number THRA sequence variant (missense) reported among autism cohort [PMID: 28856816, 25621899].; to: Over 10 sequence variants (including truncating nonsense and frameshift as well as missense) have been reported in the literature in association with consistent phenotype of mild hypothyroidism (growth retardation, relatively high birth length and weight, mild-to-moderate mental retardation, mild skeletal dysplasia, delayed dentition and constipation) and specific facial features. Milder outcomes for missense variants and more severe phenotype manifestation for truncating variants have been observed.

Most of the variants are located in the last exon of the THRA isoform 1 (NM_199334.5; a shorter isoform) affecting the C-terminal ligand binding domain with nonsense and frameshift variants predicted to escape nonsense mediated decay. These variants are either de novo or inherited from an affected parent. A few pedigrees are also available with segregation data. Truncating variants appear to have near complete penetrance whereas missense variants may be associated with variable expressivity (Family C - PMID: 27144938).

Functional evidence suggests altered gene product with possible dominant negative effect (PMID: 22168587, 28471274). Knock in mouse model available for E403X presenting with similar phenotype as seen in the human patients, including growth retardation and variable presentation of psychomotor deficit (PMID: 32924834). A small number THRA sequence variant (missense) reported among autism cohort [PMID: 28856816, 25621899].
Intellectual disability syndromic and non-syndromic v0.5881 THRA Hnin Aung reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22494134, 23940126, 24847461, 25670821, 26037512, 25621899, 27144938, 28856816, 30842990, 37469961; Phenotypes: Hypothyroidism congenital nongoitrous 6 (MIM 614450), Intellectual disability syndromic, Growth retardation, Facial dysmorphism, Constipation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aminoacidopathy v1.9 ALDH18A1 Sangavi Sivagnanasundram edited their review of gene: ALDH18A1: Changed rating: GREEN
Aminoacidopathy v1.9 ALDH18A1 Sangavi Sivagnanasundram gene: ALDH18A1 was added
gene: ALDH18A1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALDH18A1 were set to 32017139, 26026163, 26320891
Phenotypes for gene: ALDH18A1 were set to P5CS deficiency MONDO:0100126
Added comment: Classified Definitive on 18/05/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004093

P5CS is an important enzyme in several amino acid pathways. >10 Individuals with abnormal biochemistry and function studies have been conducted.

Mechanism of disease is variable LOF depending on the mutation present which results in the spectrum of severity in the phenotype.
Dominant negative mutations have a less severe phenotype (AD cutis laxa/hsp) to the severely affected proteins having no activity (AR cutis laxa/hsp) (PMID: 32017139).
Sources: ClinGen
Mendeliome v1.1794 B2M Zornitza Stark edited their review of gene: B2M: Changed phenotypes: Amyloidosis, hereditary systemic 6, MIM# 620659, Immunodeficiency 43 MIM# 241600, Sinopulmonary infections, Purple-red skin lesions, Decreased serum IgG, Decreased B cells, Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c, MONDO:0009434, Amyloidosis, familial visceral, MIM# 105200
Mendeliome v1.1794 LYZ Zornitza Stark Phenotypes for gene: LYZ were changed from Amyloidosis, renal, MIM# 105200 to Amyloidosis, renal, MIM# 105200; Amyloidosis, hereditary systemic 5, MIM# 620658
Mendeliome v1.1793 APOA1 Zornitza Stark Phenotypes for gene: APOA1 were changed from Amyloidosis, 3 or more types MIM#105200; Hypoalphalipoproteinemia, primary, 2 MIM#618463; Hypoalphalipoproteinemia, primary, 2, intermediate MIM#619836 to Amyloidosis, hereditary systemic 3, MIM# 620657; Amyloidosis, 3 or more types MIM#105200; Hypoalphalipoproteinemia, primary, 2 MIM#618463; Hypoalphalipoproteinemia, primary, 2, intermediate MIM#619836
Aminoacidopathy v1.9 AHCY Sangavi Sivagnanasundram gene: AHCY was added
gene: AHCY was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHCY were set to 13641268, 15024124, 16736098, 20852937, 22959829, 30121674, 26527160, 26095522, 27848944, 31957987, 35463910
Phenotypes for gene: AHCY were set to hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404
Review for gene: AHCY was set to GREEN
Added comment: Individuals present with psychomotor delay along with biochemical abnormalities (elevated plasma SAH, SAM, methionione and creatine kinase with decreased SAM/SAH ratio).
At least 10 probands (majority having missense variants but nonsense variants have been reported as well) have been reported with a biochemical abnormality. LoF is the mechanism of disease.

Classified Moderate on 12/12/2022 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004077
Sources: ClinGen
Genetic Epilepsy v1.0 Zornitza Stark promoted panel to version 1.0
Genetic Epilepsy v0.2805 LMNB2 Zornitza Stark Marked gene: LMNB2 as ready
Genetic Epilepsy v0.2805 LMNB2 Zornitza Stark Gene: lmnb2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2805 LMNB2 Zornitza Stark Classified gene: LMNB2 as Amber List (moderate evidence)
Genetic Epilepsy v0.2805 LMNB2 Zornitza Stark Gene: lmnb2 has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.9 ADK Sangavi Sivagnanasundram changed review comment from: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066

Multiple reported in individuals with ADK deficiency.
LoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity.
Sources: ClinGen; to: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066

ADK is a multisystem disorder. individuals can present with other phenotypes (such as DD, seizures, hypotonia) in the neonatal period.
Multiple reported in individuals with ADK deficiency.
LoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity.
Sources: ClinGen
Genetic Epilepsy v0.2804 GABRA6 Zornitza Stark Marked gene: GABRA6 as ready
Genetic Epilepsy v0.2804 GABRA6 Zornitza Stark Gene: gabra6 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.9 ADK Sangavi Sivagnanasundram edited their review of gene: ADK: Changed phenotypes: adenosine kinase deficiency MONDO:0100255
Aminoacidopathy v1.9 ADK Sangavi Sivagnanasundram changed review comment from: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066

ADK is a multisystem disorder. individuals can present with other phenotypes (such as DD, seizures, hypotonia) in the neonatal period.
Multiple reported in individuals with ADK deficiency.
LoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity.
Sources: ClinGen; to: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066

Multiple reported in individuals with ADK deficiency.
LoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity.
Sources: ClinGen
Genetic Epilepsy v0.2804 FAME1 Zornitza Stark Marked STR: FAME1 as ready
Genetic Epilepsy v0.2804 FAME1 Zornitza Stark Str: fame1 has been removed from the panel.
Genetic Epilepsy v0.2804 FAME1 Zornitza Stark Classified STR: FAME1 as No list
Genetic Epilepsy v0.2804 FAME1 Zornitza Stark Str: fame1 has been removed from the panel.
Aminoacidopathy v1.9 ADK Sangavi Sivagnanasundram edited their review of gene: ADK: Changed phenotypes: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404
Aminoacidopathy v1.9 ADK Sangavi Sivagnanasundram gene: ADK was added
gene: ADK was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADK were set to 21963049, 26642971, 33309011, 27671891
Phenotypes for gene: ADK were set to adenosine kinase deficiency MONDO:0100255
Review for gene: ADK was set to GREEN
Added comment: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066

ADK is a multisystem disorder. individuals can present with other phenotypes (such as DD, seizures, hypotonia) in the neonatal period.
Multiple reported in individuals with ADK deficiency.
LoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity.
Sources: ClinGen
Aminoacidopathy v1.9 ACY1 Sangavi Sivagnanasundram gene: ACY1 was added
gene: ACY1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACY1 were set to 4997716, 24117009, 16465618, 17562838, 21414403, 16274666, 20480396
Phenotypes for gene: ACY1 were set to aminoacylase 1 deficiency MONDO:0012368
Review for gene: ACY1 was set to GREEN
Added comment: Classified Definitive on 25/09/2020 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004051

Reported in >5 unrelated individuals with biochemically abnormal organic aciduria.
LoF appears to be the mechanism of disease but no functional studies conducted at this stage.
Sources: ClinGen
Genetic Epilepsy v0.2803 RAPGEF2 Zornitza Stark Marked gene: RAPGEF2 as ready
Genetic Epilepsy v0.2803 RAPGEF2 Zornitza Stark Gene: rapgef2 has been removed from the panel.
Genetic Epilepsy v0.2803 PEX10 Zornitza Stark Classified gene: PEX10 as Green List (high evidence)
Genetic Epilepsy v0.2803 PEX10 Zornitza Stark Gene: pex10 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2802 PEX10 Zornitza Stark reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger), MIM#614870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2802 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Genetic Epilepsy v0.2802 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2802 KATNB1 Zornitza Stark Classified gene: KATNB1 as Green List (high evidence)
Genetic Epilepsy v0.2802 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2801 KATNB1 Zornitza Stark reviewed gene: KATNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 6, with microcephaly MIM#616212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2801 JARID2 Zornitza Stark Marked gene: JARID2 as ready
Genetic Epilepsy v0.2801 JARID2 Zornitza Stark Gene: jarid2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2801 JARID2 Zornitza Stark Marked gene: JARID2 as ready
Genetic Epilepsy v0.2801 JARID2 Zornitza Stark Gene: jarid2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2801 KIF4A Zornitza Stark Marked gene: KIF4A as ready
Genetic Epilepsy v0.2801 KIF4A Zornitza Stark Gene: kif4a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2801 UBE3A Zornitza Stark Marked gene: UBE3A as ready
Genetic Epilepsy v0.2801 UBE3A Zornitza Stark Gene: ube3a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2801 UBE3A Zornitza Stark Phenotypes for gene: UBE3A were changed from to Angelman syndrome, MIM#105830
Genetic Epilepsy v0.2800 UBE3A Zornitza Stark Publications for gene: UBE3A were set to
Genetic Epilepsy v0.2799 UBE3A Zornitza Stark Mode of inheritance for gene: UBE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Genetic Epilepsy v0.2798 UBE2A Zornitza Stark Marked gene: UBE2A as ready
Genetic Epilepsy v0.2798 UBE2A Zornitza Stark Gene: ube2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2798 UBE2A Zornitza Stark Phenotypes for gene: UBE2A were changed from to Intellectual developmental disorder, X-linked syndromic, Nascimento type 300860
Genetic Epilepsy v0.2797 UBE2A Zornitza Stark Publications for gene: UBE2A were set to
Genetic Epilepsy v0.2796 UBE2A Zornitza Stark Mode of inheritance for gene: UBE2A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.2795 UBE2A Zornitza Stark changed review comment from: >3 families reported. Obligate carrier females unaffected.
ClinGen: Definitively associated with syndromic X-linked ID; to: >3 families reported. Obligate carrier females unaffected.
ClinGen: Definitively associated with syndromic X-linked ID. Seizures are part of the phenotype.
Genetic Epilepsy v0.2795 UBE2A Zornitza Stark edited their review of gene: UBE2A: Changed phenotypes: Intellectual developmental disorder, X-linked syndromic, Nascimento type 300860
Genetic Epilepsy v0.2795 TUBG1 Zornitza Stark Marked gene: TUBG1 as ready
Genetic Epilepsy v0.2795 TUBG1 Zornitza Stark Gene: tubg1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2795 TUBG1 Zornitza Stark Phenotypes for gene: TUBG1 were changed from to Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412
Genetic Epilepsy v0.2794 TUBG1 Zornitza Stark Publications for gene: TUBG1 were set to
Genetic Epilepsy v0.2793 TUBG1 Zornitza Stark Mode of inheritance for gene: TUBG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2792 TUBB4A Zornitza Stark Marked gene: TUBB4A as ready
Genetic Epilepsy v0.2792 TUBB4A Zornitza Stark Gene: tubb4a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2792 TUBB4A Zornitza Stark Phenotypes for gene: TUBB4A were changed from to Leukodystrophy, hypomyelinating, 6, OMIM # 612438
Genetic Epilepsy v0.2791 TUBB4A Zornitza Stark Publications for gene: TUBB4A were set to
Genetic Epilepsy v0.2790 TUBB4A Zornitza Stark Mode of inheritance for gene: TUBB4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2789 TUBB4A Zornitza Stark edited their review of gene: TUBB4A: Changed phenotypes: Leukodystrophy, hypomyelinating, 6, OMIM # 612438
Genetic Epilepsy v0.2789 TUBB4A Zornitza Stark changed review comment from: Dystonia-4, also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait. At least 8 unrelated families reported.

Leukodystrophy: multiple individuals reported, onset of symptoms is typically in infancy and early childhood.; to: Leukodystrophy: multiple individuals reported, onset of symptoms is typically in infancy and early childhood. Seizures are part of the phenotype.
Genetic Epilepsy v0.2789 TUBB2B Zornitza Stark Marked gene: TUBB2B as ready
Genetic Epilepsy v0.2789 TUBB2B Zornitza Stark Gene: tubb2b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2789 TUBB2B Zornitza Stark Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
Genetic Epilepsy v0.2788 TUBB2B Zornitza Stark Publications for gene: TUBB2B were set to
Genetic Epilepsy v0.2787 TUBB2B Zornitza Stark Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2786 TUBB Zornitza Stark Marked gene: TUBB as ready
Genetic Epilepsy v0.2786 TUBB Zornitza Stark Gene: tubb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2786 TUBB Zornitza Stark Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771
Genetic Epilepsy v0.2785 TUBB Zornitza Stark Publications for gene: TUBB were set to
Genetic Epilepsy v0.2784 TUBB Zornitza Stark Mode of inheritance for gene: TUBB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2783 TUBB Zornitza Stark changed review comment from: Established gene-disease association.; to: Established gene-disease association. Seizures are part of the phenotype.
Genetic Epilepsy v0.2783 TUBA1A Zornitza Stark Marked gene: TUBA1A as ready
Genetic Epilepsy v0.2783 TUBA1A Zornitza Stark Gene: tuba1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2783 TUBA1A Zornitza Stark Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, MIM# 611603
Genetic Epilepsy v0.2782 TUBA1A Zornitza Stark Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2781 TSEN54 Zornitza Stark Marked gene: TSEN54 as ready
Genetic Epilepsy v0.2781 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2781 TSEN54 Zornitza Stark Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 2A, MIM# 277470
Genetic Epilepsy v0.2780 TSEN54 Zornitza Stark Mode of inheritance for gene: TSEN54 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2779 TSEN54 Zornitza Stark changed review comment from: Gene-disease association between bi-allelic variants and PCH is well established, limited evidence for mono-allelic variants causing ataxia as per Bryony's review.; to: Gene-disease association between bi-allelic variants and PCH is well established, limited evidence for mono-allelic variants causing ataxia as per Bryony's review. Seizures are part of the PCH phenotype.
Genetic Epilepsy v0.2779 TSC2 Zornitza Stark Marked gene: TSC2 as ready
Genetic Epilepsy v0.2779 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2779 TSC2 Zornitza Stark Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis 2, MIM# 613254
Genetic Epilepsy v0.2778 TSC2 Zornitza Stark Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2777 TSC2 Zornitza Stark reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis 2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2777 TSC1 Zornitza Stark Marked gene: TSC1 as ready
Genetic Epilepsy v0.2777 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2777 TSC1 Zornitza Stark Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis 1, MIM# 191100
Genetic Epilepsy v0.2776 TSC1 Zornitza Stark Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2775 TSC1 Zornitza Stark reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis 1, MIM# 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2775 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Genetic Epilepsy v0.2775 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2775 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; MONDO:0008769
Genetic Epilepsy v0.2774 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
Genetic Epilepsy v0.2773 TPP1 Zornitza Stark Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2772 TPP1 Zornitza Stark edited their review of gene: TPP1: Changed phenotypes: Ceroid lipofuscinosis, neuronal, 2, MIM# 204500, MONDO:0008769
Genetic Epilepsy v0.2772 TCF4 Zornitza Stark Marked gene: TCF4 as ready
Genetic Epilepsy v0.2772 TCF4 Zornitza Stark Gene: tcf4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2772 TCF4 Zornitza Stark Phenotypes for gene: TCF4 were changed from to Pitt-Hopkins syndrome, MIM# 610954
Genetic Epilepsy v0.2771 TCF4 Zornitza Stark Publications for gene: TCF4 were set to
Genetic Epilepsy v0.2770 TCF4 Zornitza Stark Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2769 TCF4 Zornitza Stark changed review comment from: The association with Pitt-Hopkins syndrome is well established.

Corneal dystrophy is associated with STR.; to: The association with Pitt-Hopkins syndrome is well established. Seizures are part of the phenotype.

Corneal dystrophy is associated with STR.
Genetic Epilepsy v0.2769 TBL1XR1 Zornitza Stark Marked gene: TBL1XR1 as ready
Genetic Epilepsy v0.2769 TBL1XR1 Zornitza Stark Gene: tbl1xr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2769 TBL1XR1 Zornitza Stark Phenotypes for gene: TBL1XR1 were changed from to Intellectual disability, autosomal dominant 41, MIM# 616944; Pierpont syndrome, MIM# 602342
Genetic Epilepsy v0.2768 TBL1XR1 Zornitza Stark Publications for gene: TBL1XR1 were set to
Genetic Epilepsy v0.2767 TBL1XR1 Zornitza Stark Mode of inheritance for gene: TBL1XR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2766 TBL1XR1 Zornitza Stark edited their review of gene: TBL1XR1: Changed phenotypes: Intellectual disability, autosomal dominant 41, MIM# 616944, Pierpont syndrome, MIM# 602342
Genetic Epilepsy v0.2766 TBC1D24 Zornitza Stark Marked gene: TBC1D24 as ready
Genetic Epilepsy v0.2766 TBC1D24 Zornitza Stark Gene: tbc1d24 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2766 TBC1D24 Zornitza Stark Phenotypes for gene: TBC1D24 were changed from to Developmental and epileptic encephalopathy 16 MIM#615338; DOORS syndrome MIM#220500; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105; Myoclonic epilepsy, infantile, familial MIM#605021
Genetic Epilepsy v0.2765 TBC1D24 Zornitza Stark Mode of inheritance for gene: TBC1D24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.91 ABCB7 Santosh Varughese reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 8040304, 23835273, 25835712, 7825602, 7581394, 8566952, 11748843, 7825602; Phenotypes: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.5881 SCN8A Tinashe Nhindiri reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34353676, 38233770, 30171078; Phenotypes: Epileptic encephalopathy, Developmental delay, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5881 SLX4 Lovepreet Gill reviewed gene: SLX4: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: (PMID: 21240277, 21240275, 23093618, 26453996); Phenotypes: Franconia anemia, complementation group P; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.5881 SLC4A4 Adam Ivey reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29914390, 11274232, 15930088; Phenotypes: OMIM:604278-RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND IMPAIRED INTELLECTUAL DEVELOPMENT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5881 SOX10 David Fairbairn changed review comment from: Main mutation mechanism: truncated proteins, potent dominant-negative activity and more severe phenotype only when escapes NMD. Decipher: SOX 10 copy number losses and gains associated with intellectual disability. PCWH Gene2Phenotype: monoallelic-altered gene product structure, DD definitive. Waardenburg syndrome, type 2E Gene2Phenotype: monoallelic-absent gene product, DD definitive. GenCC definitive. OMIM #609136: dominant-negative heterozygous SOX 10 variants in multiple (>3) unrelated cases resulting in neurologic features.; to: Main mutation mechanism: truncated proteins, potent dominant-negative activity and more severe phenotype only when escapes NMD. Decipher: SOX 10 copy number losses and gains associated with intellectual disability. PCWH Gene2Phenotype: monoallelic-altered gene product structure, DD definitive. Waardenburg syndrome, type 2E Gene2Phenotype: monoallelic-absent gene product, DD definitive. GenCC definitive. OMIM #609136: dominant-negative heterozygous SOX 10 variants in multiple (>3) unrelated cases resulting in neurologic features.
Intellectual disability syndromic and non-syndromic v0.5881 SOX10 David Fairbairn reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10762540, 34667088, 38132479; Phenotypes: PCWH (Peripheral demyelinating neuropathy Central demyelination, Waardenburg and Hirschsprung disease) syndrome (OMIM #609136), Waardenburg syndrome, type 2E, with or without neurologic involvement (OMIM #611584); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.5881 ROR2 Shani Stuart reviewed gene: ROR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33937263, 32954672, 32172608; Phenotypes: Intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5881 SLC25A1 Alyson Lewis reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31527857, PMID: 26870663; Phenotypes: Impaired intellectual development, mild, Learning disabilities, Delayed motor development; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.125 EIF2S3 Hali Van Niel reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28055140, 9781023, 32799315, 35765291; Phenotypes: MEHMO syndrome MONDO:0010258; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Monogenic Diabetes v0.125 EIF2AK3 Hali Van Niel reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20202148, 11997520, 16813601, 10932183, 37873802, 36106422; Phenotypes: Wolcott-Rallison syndrome MONDO:0009192, neonatal diabetes mellitus MONDO:0016391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.125 WFS1 Hali Van Niel reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7490992, 33693650, 34792487; Phenotypes: Wolfram syndrome 1 MONDO:0009101, type 1 diabetes mellitus MONDO:0005147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.125 PPP1R15B Hali Van Niel edited their review of gene: PPP1R15B: Changed rating: AMBER
Monogenic Diabetes v0.125 IL2RA Hali Van Niel reviewed gene: IL2RA: Rating: AMBER; Mode of pathogenicity: None; Publications: 15776395, 17196245; Phenotypes: immunodeficiency due to CD25 deficiency MONDO:0011664, neonatal diabetes mellitus MONDO:0016391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5881 TBCE Leanne Baxter reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:27666369: PMID:17699660: PMID:34356170: PMID: 34134906; Phenotypes: Encephalopathy, progressive, with amyotrophy and optic atrophy MIM:617207, Hypoparathyroidism-retardation-dysmorphism syndrome MIM:241410, Kenny-Caffey syndrome, type 1 MIM:244460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.125 LMNA Hali Van Niel reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 15028826, 10587585, 17250669, 37843397; Phenotypes: familial partial lipodystrophy, Dunnigan type MONDO:0007906, type 2 diabetes mellitus MONDO:0005148; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2764 WASF1 Ain Roesley Phenotypes for gene: WASF1 were changed from Neurodevelopmental disorder with absent language and variable seizures , MIM#618707 to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707
Genetic Epilepsy v0.2763 WASF1 Ain Roesley Publications for gene: WASF1 were set to 29961568; 34845217; 34478686; 34356165
Genetic Epilepsy v0.2763 WASF1 Ain Roesley Marked gene: WASF1 as ready
Genetic Epilepsy v0.2763 WASF1 Ain Roesley Gene: wasf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2763 WASF1 Ain Roesley Phenotypes for gene: WASF1 were changed from Neurodevelopmental disorder with absent language and variable seizures , MIM#618707 to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707
Genetic Epilepsy v0.2763 WASF1 Ain Roesley Phenotypes for gene: WASF1 were changed from to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707
Genetic Epilepsy v0.2763 WASF1 Ain Roesley Publications for gene: WASF1 were set to
Genetic Epilepsy v0.2762 WASF1 Ain Roesley Mode of inheritance for gene: WASF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2762 WASF1 Ain Roesley Mode of inheritance for gene: WASF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2762 WASF1 Ain Roesley Mode of inheritance for gene: WASF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2761 WDR45 Ain Roesley Phenotypes for gene: WDR45 were changed from Neurodegeneration with brain iron accumulation 5, MIM# 300894; Rett syndrome; Rett-like phenotypes to Neurodegeneration with brain iron accumulation 5, MIM# 300894; Rett syndrome; Rett-like phenotypes
Genetic Epilepsy v0.2761 WDR45 Ain Roesley Mode of inheritance for gene: WDR45 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2761 WDR45 Ain Roesley Publications for gene: WDR45 were set to 23176820; 30842224
Genetic Epilepsy v0.2760 WDR45 Ain Roesley Marked gene: WDR45 as ready
Genetic Epilepsy v0.2760 WDR45 Ain Roesley Gene: wdr45 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2760 WDR45 Ain Roesley Phenotypes for gene: WDR45 were changed from to Neurodegeneration with brain iron accumulation 5, MIM# 300894; Rett syndrome; Rett-like phenotypes
Genetic Epilepsy v0.2760 WDR45 Ain Roesley Publications for gene: WDR45 were set to
Genetic Epilepsy v0.2760 WDR45 Ain Roesley Mode of inheritance for gene: WDR45 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2759 WDR73 Ain Roesley Phenotypes for gene: WDR73 were changed from Galloway-Mowat syndrome 1 MIM#251300 to Galloway-Mowat syndrome 1 MIM#251300
Genetic Epilepsy v0.2759 SYNJ1 Zornitza Stark Phenotypes for gene: SYNJ1 were changed from Developmental and epileptic encephalopathy 53, MIM# 617389 to Developmental and epileptic encephalopathy 53, MIM# 617389
Genetic Epilepsy v0.2759 SYNJ1 Zornitza Stark Phenotypes for gene: SYNJ1 were changed from Developmental and epileptic encephalopathy 53, MIM# 617389 to Developmental and epileptic encephalopathy 53, MIM# 617389
Genetic Epilepsy v0.2759 SYNJ1 Zornitza Stark Marked gene: SYNJ1 as ready
Genetic Epilepsy v0.2759 SYNJ1 Zornitza Stark Gene: synj1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2759 SYNJ1 Zornitza Stark Phenotypes for gene: SYNJ1 were changed from Developmental and epileptic encephalopathy 53, MIM# 617389; Parkinson disease 20, early-onset, MIM# 615530 to Developmental and epileptic encephalopathy 53, MIM# 617389
Genetic Epilepsy v0.2759 WDR73 Ain Roesley Phenotypes for gene: WDR73 were changed from Galloway-Mowat syndrome 1 MIM#251300 to Galloway-Mowat syndrome 1 MIM#251300
Genetic Epilepsy v0.2759 WDR73 Ain Roesley Publications for gene: WDR73 were set to 25466283; 26123727; 25873735; 26070982; 30315938
Genetic Epilepsy v0.2758 WDR73 Ain Roesley Marked gene: WDR73 as ready
Genetic Epilepsy v0.2758 WDR73 Ain Roesley Gene: wdr73 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2758 WDR73 Ain Roesley Phenotypes for gene: WDR73 were changed from to Galloway-Mowat syndrome 1 MIM#251300
Genetic Epilepsy v0.2758 WDR73 Ain Roesley Publications for gene: WDR73 were set to
Monogenic Diabetes v0.125 LRBA Hali Van Niel changed review comment from: Established gene disease association with Immunodeficiency, common variable, 8, with autoimmunity, feature may present with type 1 diabetes, possibly neonatal

25468195: 1 patient T1DM
26768763: 5 patients with T1DM
27057999: 1 patient T1DM at 20months
26745254: 2 patients with T1DM, 1 at 2 years, one at infancy
25479458: 1 patient T1DM at 6 years
28473463: 8 patients with T1DM, three of which diagnosed <6months (neonatal diabetes)
26206937: 2 patient T1Dm, 2 years and 18months; to: Established gene disease association with Immunodeficiency, common variable, 8, with autoimmunity, feature may present with type 1 diabetes, possibly neonatal

25468195: 1 patient T1DM
26768763: 5 patients with T1DM
27057999: 1 patient T1DM at 20months
26745254: 2 patients with T1DM, 1 at 2 years, one at infancy
25479458: 1 patient T1DM at 6 years
28473463: 8 patients with T1DM, three of which diagnosed <6months (neonatal diabetes)
26206937: 2 patient T1Dm, 2 years and 18months
all with AR null LRBA variants
Monogenic Diabetes v0.125 LRBA Hali Van Niel reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25468195, 26768763, 27057999, 26745254, 25479458, 28473463, 26206937; Phenotypes: type 1 diabetes mellitus MONDO:0005147, neonatal diabetes mellitus MONDO:0016391, combined immunodeficiency due to LRBA deficiency MONDO:0013863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2758 WDR73 Ain Roesley Mode of inheritance for gene: WDR73 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2757 RAB18 Zornitza Stark Marked gene: RAB18 as ready
Genetic Epilepsy v0.2757 RAB18 Zornitza Stark Gene: rab18 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2757 RAB18 Zornitza Stark Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222
Genetic Epilepsy v0.2756 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Genetic Epilepsy v0.2755 RAB18 Zornitza Stark Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2754 RAB18 Zornitza Stark changed review comment from: Autosomal recessive syndrome characterised by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. At least 7 families reported, including 4 Pakistani families with a founder variant, p.Leu24Gln; to: Autosomal recessive syndrome characterised by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. At least 7 families reported, including 4 Pakistani families with a founder variant, p.Leu24Gln. Seizures are part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.5881 SLC19A3 Zornitza Stark Marked gene: SLC19A3 as ready
Intellectual disability syndromic and non-syndromic v0.5881 SLC19A3 Zornitza Stark Gene: slc19a3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5881 SLC19A3 Zornitza Stark Publications for gene: SLC19A3 were set to
Intellectual disability syndromic and non-syndromic v0.5880 SLC19A3 Zornitza Stark Phenotypes for gene: SLC19A3 were changed from to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483
Intellectual disability syndromic and non-syndromic v0.5879 SLC19A3 Zornitza Stark Mode of inheritance for gene: SLC19A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.125 ZBTB20 Zornitza Stark Marked gene: ZBTB20 as ready
Monogenic Diabetes v0.125 ZBTB20 Zornitza Stark Gene: zbtb20 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.125 ZBTB20 Zornitza Stark Phenotypes for gene: ZBTB20 were changed from Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications); Primrose syndrome, 259050 to Primrose syndrome MONDO:0009798; Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications); Primrose syndrome, 259050
Monogenic Diabetes v0.124 ZBTB20 Zornitza Stark Publications for gene: ZBTB20 were set to 20644156; 25017102
Monogenic Diabetes v0.123 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Monogenic Diabetes v0.123 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.123 PIK3R1 Zornitza Stark Phenotypes for gene: PIK3R1 were changed from Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome to SHORT syndrome MONDO:0010026; Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, MIM#269880
Monogenic Diabetes v0.122 PIK3R1 Zornitza Stark Publications for gene: PIK3R1 were set to 23810378
Intellectual disability syndromic and non-syndromic v0.5878 SPECC1L Zornitza Stark Marked gene: SPECC1L as ready
Intellectual disability syndromic and non-syndromic v0.5878 SPECC1L Zornitza Stark Gene: specc1l has been classified as Green List (High Evidence).
Monogenic Diabetes v0.121 PIK3R1 Hali Van Niel reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32879144, 32602265, 3651536, 34249805, 32439336; Phenotypes: SHORT syndrome MONDO:0010026; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.121 ZBTB20 Hali Van Niel reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: None; Publications: 27061120, 25017102, 29737001, 38087819, 32473227, 30637921, 32266967; Phenotypes: Primrose syndrome MONDO:0009798; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5878 SLC19A3 Jane Lin changed review comment from: Rare disorder of thiamine metabolism and transport. Has well characterised gene-phenotype link in more than 3 families (multiple publications, in different subpopulations). Many symptoms in this disorder, for example confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, and dysphagia. ID has been described as a sequela in many cases.; to: Rare disorder of thiamine metabolism and transport. Has well characterised gene-phenotype link for THMD2 in more than 3 families (multiple publications, in different subpopulations). Many CNS related symptoms in this disorder, for example confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, and dysphagia. ID has been described as a sequela in many cases.
Intellectual disability syndromic and non-syndromic v0.5878 SLC19A3 Jane Lin reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15871139, PMID: 34276785, PMID: 23482991, PMID: 20065143; Phenotypes: # 607483 BASAL GANGLIA DISEASE, BIOTIN-THIAMINE RESPONSIVE (BBTGD), THIAMINE METABOLISM DYSFUNCTION SYNDROME 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5878 SASS6 Zornitza Stark Marked gene: SASS6 as ready
Intellectual disability syndromic and non-syndromic v0.5878 SASS6 Zornitza Stark Gene: sass6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5878 SASS6 Zornitza Stark Classified gene: SASS6 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5878 SASS6 Zornitza Stark Gene: sass6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5877 SASS6 Zornitza Stark gene: SASS6 was added
gene: SASS6 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: SASS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SASS6 were set to 24951542; 30639237
Phenotypes for gene: SASS6 were set to Microcephaly 14, primary, autosomal recessive, MIM# 616402
Review for gene: SASS6 was set to GREEN
Added comment: At least 3 unrelated families reported, severe ID is part of the phenotype.
Sources: Expert Review
Monogenic Diabetes v0.121 ZMPSTE24 Hali Van Niel reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: None; Publications: 20814950, 18435794, 36927562, 31856865; Phenotypes: Mandibuloacral dysplasia with type B lipodystrophy, MONDO:0012074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.121 AGPS Hali Van Niel reviewed gene: AGPS: Rating: RED; Mode of pathogenicity: None; Publications: 9553082, 21990100, 35070570; Phenotypes: rhizomelic chondrodysplasia punctata type 3 MONDO:0010823; Mode of inheritance: Unknown
Intellectual disability syndromic and non-syndromic v0.5876 SPECC1L Zornitza Stark Phenotypes for gene: SPECC1L were changed from to Teebi hypertelorism syndrome 1, MIM# 145420
Intellectual disability syndromic and non-syndromic v0.5875 SPECC1L Zornitza Stark Publications for gene: SPECC1L were set to
Intellectual disability syndromic and non-syndromic v0.5874 SPECC1L Zornitza Stark Mode of inheritance for gene: SPECC1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5873 SPECC1L Zornitza Stark reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Teebi hypertelorism syndrome 1, MIM# 145420; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5873 SPECC1L Ibrahim El-Deek changed review comment from: There is paucity of literature directly linking SPECC1L variants to intellectual disability and developmental delay. However, Zhang et al. (PMID: 31953237) reviewed 33 patients from 14 families with SPECC1L variants, noting that the most common features were dysmorphic facial characteristics. Developmental delays were reported in 24.2% of patients (8/33), with some achieving normal development during childhood.; to: There is paucity of literature directly linking SPECC1L variants to intellectual disability and developmental delay. However, Zhang et al. (PMID: 31953237) reviewed 33 patients from 14 families with SPECC1L variants (including 10 missense point mutation and 1 deletion), noting that the most common features were dysmorphic facial characteristics. Developmental delays were reported in 24.2% of patients (8/33), with some achieving normal development during childhood.
Intellectual disability syndromic and non-syndromic v0.5873 SPECC1L Ibrahim El-Deek reviewed gene: SPECC1L: Rating: RED; Mode of pathogenicity: Other; Publications: 31953237, 30472488; Phenotypes: Teebi hypertelorism syndrome 1, Oblique Facial Clefting 1, Opitz GBBB syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5873 GABRA4 Adam Ivey gene: GABRA4 was added
gene: GABRA4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GABRA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA4 were set to PMID: 38565639
Phenotypes for gene: GABRA4 were set to Developmental delay; Intellectual disability; Epileptic seizures
Penetrance for gene: GABRA4 were set to Complete
Review for gene: GABRA4 was set to GREEN
Added comment: Four unrelated individuals with unique de novo missense variants in the transmembrane domain of GABRA4 have developmental delay and varying degrees of intellectual disability (PMID: 38565639). These variants are not present in gnomAD and three of the four variants have pathogenic REVEL scores. Two of the GABRA4 variants were heterozygous, while the remaining two were mosaic.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5873 L1CAM Zornitza Stark Marked gene: L1CAM as ready
Intellectual disability syndromic and non-syndromic v0.5873 L1CAM Zornitza Stark Gene: l1cam has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5873 L1CAM Zornitza Stark Phenotypes for gene: L1CAM were changed from to L1 syndrome MONDO:0017140
Intellectual disability syndromic and non-syndromic v0.5872 L1CAM Zornitza Stark Mode of inheritance for gene: L1CAM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5871 LAMC3 Zornitza Stark Marked gene: LAMC3 as ready
Intellectual disability syndromic and non-syndromic v0.5871 LAMC3 Zornitza Stark Gene: lamc3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5871 LAMC3 Zornitza Stark Phenotypes for gene: LAMC3 were changed from to complex neurodevelopmental disorder MONDO:0100038; Cortical malformations, occipital, MIM# 614115
Intellectual disability syndromic and non-syndromic v0.5870 LAMC3 Zornitza Stark Publications for gene: LAMC3 were set to
Intellectual disability syndromic and non-syndromic v0.5869 LAMC3 Zornitza Stark Mode of inheritance for gene: LAMC3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5868 LAMC3 Zornitza Stark Classified gene: LAMC3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5868 LAMC3 Zornitza Stark Gene: lamc3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5867 LAMC3 Zornitza Stark reviewed gene: LAMC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 38758065, 21572413; Phenotypes: complex neurodevelopmental disorder MONDO:0100038, Cortical malformations, occipital, MIM# 614115; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5867 MAGT1 Zornitza Stark Phenotypes for gene: MAGT1 were changed from Congenital disorder of glycosylation, type Icc, OMIM #301031; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, OMIM #300853 to X-linked intellectual disability MONDO:0100284; Congenital disorder of glycosylation, type Icc, OMIM #301031
Intellectual disability syndromic and non-syndromic v0.5866 MAGT1 Zornitza Stark Classified gene: MAGT1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.5866 MAGT1 Zornitza Stark Gene: magt1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5865 MAGT1 Zornitza Stark Tag disputed tag was added to gene: MAGT1.
Intellectual disability syndromic and non-syndromic v0.5865 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Intellectual disability syndromic and non-syndromic v0.5865 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5865 MBTPS2 Zornitza Stark Phenotypes for gene: MBTPS2 were changed from to IFAP syndrome 1, with or without BRESHECK syndrome MONDO:0100213
Intellectual disability syndromic and non-syndromic v0.5864 MBTPS2 Zornitza Stark Mode of inheritance for gene: MBTPS2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5863 MED12 Zornitza Stark Marked gene: MED12 as ready
Intellectual disability syndromic and non-syndromic v0.5863 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5863 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from to MED12-related intellectual disability syndrome MONDO:0100000
Intellectual disability syndromic and non-syndromic v0.5862 MED12 Zornitza Stark Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5861 MED13L Zornitza Stark Marked gene: MED13L as ready
Intellectual disability syndromic and non-syndromic v0.5861 MED13L Zornitza Stark Gene: med13l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5861 MED13L Zornitza Stark Phenotypes for gene: MED13L were changed from to syndromic intellectual disability MONDO:0000508
Intellectual disability syndromic and non-syndromic v0.5860 MED13L Zornitza Stark Publications for gene: MED13L were set to
Intellectual disability syndromic and non-syndromic v0.5859 MED13L Zornitza Stark Mode of inheritance for gene: MED13L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5858 MED23 Zornitza Stark Marked gene: MED23 as ready
Intellectual disability syndromic and non-syndromic v0.5858 MED23 Zornitza Stark Gene: med23 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5858 MED23 Zornitza Stark Phenotypes for gene: MED23 were changed from to syndromic intellectual disability MONDO:0000508
Intellectual disability syndromic and non-syndromic v0.5857 MED23 Zornitza Stark Publications for gene: MED23 were set to
Intellectual disability syndromic and non-syndromic v0.5856 MED23 Zornitza Stark Mode of inheritance for gene: MED23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5855 MID1 Zornitza Stark Marked gene: MID1 as ready
Intellectual disability syndromic and non-syndromic v0.5855 MID1 Zornitza Stark Gene: mid1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5855 MID1 Zornitza Stark Phenotypes for gene: MID1 were changed from to X-linked Opitz G/BBB syndrome MONDO:0010222
Intellectual disability syndromic and non-syndromic v0.5854 MID1 Zornitza Stark Mode of inheritance for gene: MID1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5853 NDP Zornitza Stark Marked gene: NDP as ready
Intellectual disability syndromic and non-syndromic v0.5853 NDP Zornitza Stark Gene: ndp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5853 NDP Zornitza Stark Phenotypes for gene: NDP were changed from to Norrie disease MONDO:0010691
Intellectual disability syndromic and non-syndromic v0.5852 NDP Zornitza Stark Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5851 NSD1 Zornitza Stark Marked gene: NSD1 as ready
Intellectual disability syndromic and non-syndromic v0.5851 NSD1 Zornitza Stark Gene: nsd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5851 NSD1 Zornitza Stark Phenotypes for gene: NSD1 were changed from to Sotos syndrome MONDO:0019349
Intellectual disability syndromic and non-syndromic v0.5850 NSD1 Zornitza Stark Mode of inheritance for gene: NSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1792 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to 21998596
Mendeliome v1.1791 RBBP8 Zornitza Stark edited their review of gene: RBBP8: Added comment: Additional family reported with Jawad syndrome: prev reported founder variant, multi-generational family, abnormal splicing demonstrated.; Changed rating: GREEN; Changed publications: 34270086; Changed phenotypes: Jawad syndrome, MIM# 251255; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5849 OCRL Zornitza Stark Marked gene: OCRL as ready
Intellectual disability syndromic and non-syndromic v0.5849 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5849 OCRL Zornitza Stark Phenotypes for gene: OCRL were changed from to oculocerebrorenal syndrome MONDO:0010645
Intellectual disability syndromic and non-syndromic v0.5848 OCRL Zornitza Stark Mode of inheritance for gene: OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5847 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Intellectual disability syndromic and non-syndromic v0.5847 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5847 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to ciliopathy MONDO:0005308
Intellectual disability syndromic and non-syndromic v0.5846 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Intellectual disability syndromic and non-syndromic v0.5845 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5844 PLP1 Zornitza Stark Marked gene: PLP1 as ready
Intellectual disability syndromic and non-syndromic v0.5844 PLP1 Zornitza Stark Gene: plp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5844 PLP1 Zornitza Stark Phenotypes for gene: PLP1 were changed from to Pelizeaus-Merzbacher spectrum disorder MONDO:0010714
Intellectual disability syndromic and non-syndromic v0.5843 PLP1 Zornitza Stark Mode of inheritance for gene: PLP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5842 PORCN Zornitza Stark Marked gene: PORCN as ready
Intellectual disability syndromic and non-syndromic v0.5842 PORCN Zornitza Stark Gene: porcn has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5842 PORCN Zornitza Stark Phenotypes for gene: PORCN were changed from to focal dermal hypoplasia MONDO:0010592
Intellectual disability syndromic and non-syndromic v0.5841 PORCN Zornitza Stark Publications for gene: PORCN were set to
Intellectual disability syndromic and non-syndromic v0.5840 PORCN Zornitza Stark Mode of inheritance for gene: PORCN was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5839 PTCHD1 Zornitza Stark Marked gene: PTCHD1 as ready
Intellectual disability syndromic and non-syndromic v0.5839 PTCHD1 Zornitza Stark Gene: ptchd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5839 PTCHD1 Zornitza Stark Phenotypes for gene: PTCHD1 were changed from to non-syndromic X-linked intellectual disability MONDO:0019181
Intellectual disability syndromic and non-syndromic v0.5838 PTCHD1 Zornitza Stark Mode of inheritance for gene: PTCHD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5837 SETBP1 Zornitza Stark Marked gene: SETBP1 as ready
Intellectual disability syndromic and non-syndromic v0.5837 SETBP1 Zornitza Stark Gene: setbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5837 SETBP1 Zornitza Stark Phenotypes for gene: SETBP1 were changed from to Schinzel-Giedion syndrome MONDO:0010010; complex neurodevelopmental disorder MONDO:0100038
Intellectual disability syndromic and non-syndromic v0.5836 SETBP1 Zornitza Stark Publications for gene: SETBP1 were set to
Intellectual disability syndromic and non-syndromic v0.5835 SETBP1 Zornitza Stark Mode of inheritance for gene: SETBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5834 SHROOM4 Zornitza Stark Classified gene: SHROOM4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.5834 SHROOM4 Zornitza Stark Gene: shroom4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5833 SHROOM4 Zornitza Stark Tag disputed tag was added to gene: SHROOM4.
Intellectual disability syndromic and non-syndromic v0.5833 SLC25A15 Zornitza Stark Marked gene: SLC25A15 as ready
Intellectual disability syndromic and non-syndromic v0.5833 SLC25A15 Zornitza Stark Gene: slc25a15 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5833 SLC25A15 Zornitza Stark Phenotypes for gene: SLC25A15 were changed from to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970
Intellectual disability syndromic and non-syndromic v0.5832 SLC25A15 Zornitza Stark Publications for gene: SLC25A15 were set to
Intellectual disability syndromic and non-syndromic v0.5831 SLC25A15 Zornitza Stark Mode of inheritance for gene: SLC25A15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5830 SLC6A4 Zornitza Stark Phenotypes for gene: SLC6A4 were changed from {Obsessive-compulsive disorder}, MIM# 164230; depression; alcohol dependence to autism spectrum disorder MONDO:0005258; {Obsessive-compulsive disorder}, MIM# 164230
Intellectual disability syndromic and non-syndromic v0.5829 SLC6A4 Zornitza Stark Tag disputed tag was added to gene: SLC6A4.
Intellectual disability syndromic and non-syndromic v0.5829 WAC Zornitza Stark Publications for gene: WAC were set to 26264232
Genetic Epilepsy v0.2754 ZDHHC15 Zornitza Stark Phenotypes for gene: ZDHHC15 were changed from Mental retardation X-linked 91, 300577; cerebral palsy; intellectual disability; autism spectrum disorder; epilepsy to Intellectual disability, X-linked 91, 300577
Genetic Epilepsy v0.2753 ZDHHC15 Zornitza Stark edited their review of gene: ZDHHC15: Changed phenotypes: Intellectual disability, X-linked 91, 300577
Mendeliome v1.1791 ZDHHC15 Zornitza Stark Phenotypes for gene: ZDHHC15 were changed from Mental retardation, X-linked 91, 300577; cerebral palsy; intellectual disability; autism spectrum disorder; epilepsy to Intellectual disability, X-linked 91, 300577
Intellectual disability syndromic and non-syndromic v0.5828 ZDHHC15 Zornitza Stark Phenotypes for gene: ZDHHC15 were changed from Mental retardation, X-linked 91, 300577 to Intellectual disability, X-linked 91, 300577
Mendeliome v1.1790 ZDHHC15 Zornitza Stark Tag disputed tag was added to gene: ZDHHC15.
Mendeliome v1.1790 ZDHHC15 Zornitza Stark edited their review of gene: ZDHHC15: Changed phenotypes: Intellectual disability, X-linked 91, 300577
Intellectual disability syndromic and non-syndromic v0.5827 ZDHHC15 Zornitza Stark Tag disputed tag was added to gene: ZDHHC15.
Intellectual disability syndromic and non-syndromic v0.5827 ZNF41 Zornitza Stark Phenotypes for gene: ZNF41 were changed from to non-syndromic X-linked intellectual disability MONDO:0019181
Mendeliome v1.1790 ZNF41 Zornitza Stark Marked gene: ZNF41 as ready
Mendeliome v1.1790 ZNF41 Zornitza Stark Gene: znf41 has been classified as Red List (Low Evidence).
Mendeliome v1.1790 ZNF41 Zornitza Stark gene: ZNF41 was added
gene: ZNF41 was added to Mendeliome. Sources: Expert Review
disputed tags were added to gene: ZNF41.
Mode of inheritance for gene: ZNF41 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZNF41 were set to 14628291; 23871722
Phenotypes for gene: ZNF41 were set to non-syndromic X-linked intellectual disability MONDO:0019181
Review for gene: ZNF41 was set to RED
Added comment: DISPUTED by ClinGen.

Shoichet et al. (2003) described a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21) in whom they cloned the DNA fragment that contained the X chromosomal and the autosomal breakpoint. In silico sequence analysis demonstrated that the ZNF41 gene was disrupted. Expression studies indicated that ZNF41 transcripts were absent in the patient cell line, suggesting that the mental disorder in this patient resulted from loss of functional ZNF41. Screening of patients with mental retardation led to the identification of 2 other ZNF41 mutations that were not found in healthy control individuals. Based on their finding of the mutations in ZNF41 identified by Shoichet et al. (2003) in a total of 7 males in the NHLBI Exome Variant Server, and the additional finding of truncating ZNF41 variants in 1 male and 1 female in that database, Piton et al. (2013) classified the involvement of ZNF41 in mental retardation as highly questionable.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.5826 ZNF41 Zornitza Stark Mode of inheritance for gene: ZNF41 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5825 ZNF41 Zornitza Stark Tag disputed tag was added to gene: ZNF41.
Intellectual disability syndromic and non-syndromic v0.5825 ZNF674 Zornitza Stark Tag disputed tag was added to gene: ZNF674.
Intellectual disability syndromic and non-syndromic v0.5825 ZNF81 Zornitza Stark Phenotypes for gene: ZNF81 were changed from Intellectual disability to X-linked intellectual disability MONDO:0100284
Intellectual disability syndromic and non-syndromic v0.5824 SHANK2 Zornitza Stark Marked gene: SHANK2 as ready
Intellectual disability syndromic and non-syndromic v0.5824 SHANK2 Zornitza Stark Gene: shank2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5824 SHANK2 Zornitza Stark Phenotypes for gene: SHANK2 were changed from to Autism, susceptibility to, 17, MIM#613436; complex neurodevelopmental disorder MONDO:0100038
Intellectual disability syndromic and non-syndromic v0.5823 SHANK2 Zornitza Stark Publications for gene: SHANK2 were set to
Intellectual disability syndromic and non-syndromic v0.5822 SHANK2 Zornitza Stark Mode of inheritance for gene: SHANK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5821 SHANK2 Zornitza Stark reviewed gene: SHANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aminoacidopathy v1.9 AASS Zornitza Stark Marked gene: AASS as ready
Aminoacidopathy v1.9 AASS Zornitza Stark Gene: aass has been classified as Green List (High Evidence).
Aminoacidopathy v1.9 AASS Zornitza Stark Publications for gene: AASS were set to 23890588, 10775527, 27604308, 23570448; 35135854
Aminoacidopathy v1.8 AASS Zornitza Stark Classified gene: AASS as Green List (high evidence)
Aminoacidopathy v1.8 AASS Zornitza Stark Gene: aass has been classified as Green List (High Evidence).
Aminoacidopathy v1.7 ACSF3 Zornitza Stark Marked gene: ACSF3 as ready
Aminoacidopathy v1.7 ACSF3 Zornitza Stark Gene: acsf3 has been classified as Green List (High Evidence).
Aminoacidopathy v1.7 ACSF3 Zornitza Stark Classified gene: ACSF3 as Green List (high evidence)
Aminoacidopathy v1.7 ACSF3 Zornitza Stark Gene: acsf3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2753 SYN1 Zornitza Stark Marked gene: SYN1 as ready
Genetic Epilepsy v0.2753 SYN1 Zornitza Stark Gene: syn1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2753 SYN1 Zornitza Stark Phenotypes for gene: SYN1 were changed from to Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491; Intellectual developmental disorder, X-linked 50, MIM# 300115
Aminoacidopathy v1.6 ACSF3 Sangavi Sivagnanasundram gene: ACSF3 was added
gene: ACSF3 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACSF3 were set to 21785126, 26915364, 30740739, 26827111, 27604308, 21841779
Phenotypes for gene: ACSF3 were set to combined malonic and methylmalonic acidemia MONDO:0013661
Review for gene: ACSF3 was set to GREEN
Added comment: Established gene disease association with reported individuals showing evidence of biochemical abnormalities however some individuals do not show any other phenotypic abnormalities.
LoF is the mechanism of disease.

Definitive classification by ClinGen Aminoacidopathy GCEP on 09/10/2020 - https://search.clinicalgenome.org/CCID:004033
Sources: ClinGen
Aminoacidopathy v1.6 AASS Sangavi Sivagnanasundram gene: AASS was added
gene: AASS was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AASS were set to 23890588, 10775527, 27604308, 23570448; 35135854
Phenotypes for gene: AASS were set to hyperlysinemia MONDO:0009388
Review for gene: AASS was set to GREEN
Added comment: Reported in individuals with affected biochemical function. Knock-in mouse model was also conducted to recapitulate the human phenotype (PMID: 35135854).

Definitive classification by ClinGen Aminoacidopathy GCEP on 14/10/2022 - https://search.clinicalgenome.org/CCID:004004
Sources: ClinGen
Intellectual disability syndromic and non-syndromic v0.5821 SHANK2 Aaron Meyers reviewed gene: SHANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20473310, 22346768, 20531469, 35456494, 32987185, 25188300, 22699619, 22699620; Phenotypes: Autism, susceptibility to, 17, MIM#613436, Autism spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5821 ZNF81 Sangavi Sivagnanasundram reviewed gene: ZNF81: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006590; Phenotypes: X-linked intellectual disability MONDO:0100284; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5821 ZNF674 Sangavi Sivagnanasundram reviewed gene: ZNF674: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006588; Phenotypes: X-linked intellectual disability MONDO:0100284; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5821 ZNF41 Sangavi Sivagnanasundram reviewed gene: ZNF41: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006585; Phenotypes: non-syndromic X-linked intellectual disability MONDO:0019181; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5821 ZDHHC15 Sangavi Sivagnanasundram reviewed gene: ZDHHC15: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006573; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5821 WAC Sangavi Sivagnanasundram reviewed gene: WAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26757981, https://search.clinicalgenome.org/CCID:006532; Phenotypes: DeSanto-Shinawi syndrome MONDO:0018760; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5821 TCF7L2 Sangavi Sivagnanasundram reviewed gene: TCF7L2: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006339; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v1.7 SLC6A9 Bryony Thompson gene: SLC6A9 was added
gene: SLC6A9 was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A9 were set to 27481395; 27773429; 14622582; 33269555
Phenotypes for gene: SLC6A9 were set to Atypical glycine encephalopathy MONDO:0015010; Glycine neurotransmitter disorders
Neurotransmitter Defects v1.7 GRM1 Bryony Thompson gene: GRM1 was added
gene: GRM1 was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GRM1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GRM1 were set to 26308914; 31319223; 22901947
Phenotypes for gene: GRM1 were set to Cerebellar ataxia MONDO:0000437; Glutamate neurotransmitter disorders
Neurotransmitter Defects v1.7 GRIA4 Bryony Thompson gene: GRIA4 was added
gene: GRIA4 was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GRIA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA4 were set to 35518358; 29220673
Phenotypes for gene: GRIA4 were set to Glutamate neurotransmitter disorders; Neurodevelopmental disorder with or without seizures and gait abnormalities MONDO:0060641
Neurotransmitter Defects v1.7 GRIA3 Bryony Thompson gene: GRIA3 was added
gene: GRIA3 was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GRIA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GRIA3 were set to 38038360
Phenotypes for gene: GRIA3 were set to Glutamate neurotransmitter disorders; X-linked complex neurodevelopmental disorder MONDO:0100148
Neurotransmitter Defects v1.7 GRIN2D Bryony Thompson gene: GRIN2D was added
gene: GRIN2D was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIN2D were set to 30280376; 27616483
Phenotypes for gene: GRIN2D were set to Glutamate neurotransmitter disorders; Complex neurodevelopmental disorder MONDO:0100038
Neurotransmitter Defects v1.7 GRIN2B Bryony Thompson gene: GRIN2B was added
gene: GRIN2B was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIN2B were set to 28377535
Phenotypes for gene: GRIN2B were set to Glutamate neurotransmitter disorders; Complex neurodevelopmental disorder MONDO:0100038
Neurotransmitter Defects v1.7 GRIN2A Bryony Thompson gene: GRIN2A was added
gene: GRIN2A was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIN2A were set to 30544257
Phenotypes for gene: GRIN2A were set to Glutamate neurotransmitter disorders; Complex neurodevelopmental disorder MONDO:0100038
Neurotransmitter Defects v1.7 GRIN1 Bryony Thompson gene: GRIN1 was added
gene: GRIN1 was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GRIN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GRIN1 were set to 29365063; 27164704; 28051072
Phenotypes for gene: GRIN1 were set to Glutamate neurotransmitter disorders; Complex neurodevelopmental disorder MONDO:0100038
Neurotransmitter Defects v1.7 GABBR2 Bryony Thompson gene: GABBR2 was added
gene: GABBR2 was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABBR2 were set to 35850019
Phenotypes for gene: GABBR2 were set to Developmental and epileptic encephalopathy, 59 MONDO:0033368; Gamma-aminobutyric acid neurotransmitter disorders
Neurotransmitter Defects v1.7 SLC6A1 Bryony Thompson gene: SLC6A1 was added
gene: SLC6A1 was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC6A1 were set to 34028503
Phenotypes for gene: SLC6A1 were set to Myoclonic-atonic epilepsy MONDO:0014633
Neurotransmitter Defects v1.7 GABRB2 Bryony Thompson gene: GABRB2 was added
gene: GABRB2 was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB2 were set to 27789573; 35850019; 29100083
Phenotypes for gene: GABRB2 were set to Epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631; Gamma-aminobutyric acid neurotransmitter disorders
Neurotransmitter Defects v1.7 GABRB1 Bryony Thompson gene: GABRB1 was added
gene: GABRB1 was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GABRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB1 were set to 23934111; 27273810; 35850019; 31618474
Phenotypes for gene: GABRB1 were set to Developmental and epileptic encephalopathy, 45 MONDO:0014942; Gamma-aminobutyric acid neurotransmitter disorders
Mitochondrial disease v0.923 TMEM126A Bryony Thompson gene: TMEM126A was added
gene: TMEM126A was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM126A were set to 29884839; 33879611
Phenotypes for gene: TMEM126A were set to Disorders of complex I subunits and assembly factors; autosomal recessive optic atrophy, OPA7 type MONDO:0013069
Mitochondrial disease v0.923 VCP Bryony Thompson gene: VCP was added
gene: VCP was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VCP were set to 29884839; 35273561; 37678339
Phenotypes for gene: VCP were set to inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507; Disorders of mitochondrial protein quality control
Mitochondrial disease v0.923 PRKN Bryony Thompson gene: PRKN was added
gene: PRKN was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKN were set to 29884839; 38069350
Phenotypes for gene: PRKN were set to Disorders of mitochondrial protein quality control; Parkinson disease MONDO:0005180
Mitochondrial disease v0.923 HSPA9 Bryony Thompson gene: HSPA9 was added
gene: HSPA9 was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 29884839; 21123823; 26598328
Phenotypes for gene: HSPA9 were set to even-plus syndrome MONDO:0014801; Disorders of mitochondrial protein quality control
Mitochondrial disease v0.923 PAM16 Bryony Thompson gene: PAM16 was added
gene: PAM16 was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAM16 were set to 29884839; 24786642; 35385740; 36438081
Phenotypes for gene: PAM16 were set to autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013223; Disorders of mitochondrial protein import
Mitochondrial disease v0.923 PTRH2 Bryony Thompson gene: PTRH2 was added
gene: PTRH2 was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRH2 were set to 29884839; 37239392
Phenotypes for gene: PTRH2 were set to Miscellaneous disorders associated with mitochondrial dysfunction; neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:8000012
Mitochondrial disease v0.923 RMRP Bryony Thompson gene: RMRP was added
gene: RMRP was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RMRP were set to 29884839; 38337186
Phenotypes for gene: RMRP were set to Disorders of ribosomal biogenesis; cartilage-hair hypoplasia MONDO:0009595
Mitochondrial disease v0.923 SDHC Bryony Thompson gene: SDHC was added
gene: SDHC was added to Mitochondrial disease. Sources: Expert Review Red
Mode of inheritance for gene: SDHC was set to Unknown
Publications for gene: SDHC were set to 31469588; 29884839
Phenotypes for gene: SDHC were set to Mitochondrial disease MONDO:0044970
Mitochondrial disease v0.923 GPD1 Bryony Thompson gene: GPD1 was added
gene: GPD1 was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: GPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPD1 were set to 29884839; 35988808; 24549054
Phenotypes for gene: GPD1 were set to Disorders of mitochondrial shuttles and carriers; transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771
Mitochondrial disease v0.923 L2HGDH Bryony Thompson gene: L2HGDH was added
gene: L2HGDH was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: L2HGDH were set to 29884839; 37995940
Phenotypes for gene: L2HGDH were set to Disorders of mitochondrial metabolite repair; L-2-hydroxyglutaric aciduria MONDO:0009370
Metal Metabolism Disorders v0.45 KCNJ10 Bryony Thompson gene: KCNJ10 was added
gene: KCNJ10 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ10 were set to 19289823, 21849804, 11466414
Phenotypes for gene: KCNJ10 were set to EAST syndrome MONDO:0013005, SESAME syndrome, MIM# 612780; Disorders of magnesium metabolism
Metal Metabolism Disorders v0.45 SLC12A3 Bryony Thompson gene: SLC12A3 was added
gene: SLC12A3 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A3 were set to 34604137, 35170241
Phenotypes for gene: SLC12A3 were set to Disorders of magnesium metabolism; Gitelman syndrome MONDO:0009904
Metal Metabolism Disorders v0.45 CNNM2 Bryony Thompson gene: CNNM2 was added
gene: CNNM2 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CNNM2 were set to 34604137, 35170241
Phenotypes for gene: CNNM2 were set to renal hypomagnesemia 6 MONDO:0013480; Disorders of magnesium metabolism
Metal Metabolism Disorders v0.45 CLDN19 Bryony Thompson gene: CLDN19 was added
gene: CLDN19 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN19 were set to 17033971, 22422540, 27530400
Phenotypes for gene: CLDN19 were set to Disorders of magnesium metabolism; renal hypomagnesemia 5 with ocular involvement MONDO:0009548
Metal Metabolism Disorders v0.45 CLDN16 Bryony Thompson gene: CLDN16 was added
gene: CLDN16 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN16 were set to 26426912, 16501001, 10878661
Phenotypes for gene: CLDN16 were set to Disorders of magnesium metabolism; renal hypomagnesemia 3 MONDO:0009550
Metal Metabolism Disorders v0.45 CLDN10 Bryony Thompson gene: CLDN10 was added
gene: CLDN10 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: CLDN10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN10 were set to 28686597
Phenotypes for gene: CLDN10 were set to Disorders of magnesium metabolism; HELIX syndrome MONDO:0060564
Metal Metabolism Disorders v0.45 FXYD2 Bryony Thompson gene: FXYD2 was added
gene: FXYD2 was added to Metal Metabolism Disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FXYD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FXYD2 were set to 17980699, 12763862, 18448590, 11062458, 25765846, 27014088
Phenotypes for gene: FXYD2 were set to Renal hypomagnesemia 2 MONDO:0007937, Disorders of magnesium metabolism
Metal Metabolism Disorders v0.45 TRPM6 Bryony Thompson gene: TRPM6 was added
gene: TRPM6 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPM6 were set to 23942199
Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal MONDO:0011176, Disorders of magnesium metabolism
Metal Metabolism Disorders v0.45 SEPSECS Bryony Thompson gene: SEPSECS was added
gene: SEPSECS was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPSECS were set to 20920667, 25044680, 31748115, 29464431
Phenotypes for gene: SEPSECS were set to pontocerebellar hypoplasia type 2D MONDO:0013438; Other disorders of trace element metabolism
Metal Metabolism Disorders v0.45 SECISBP2 Bryony Thompson gene: SECISBP2 was added
gene: SECISBP2 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SECISBP2 were set to 16228000, 19602558, 21084748, 22247018
Phenotypes for gene: SECISBP2 were set to thyroid hormone metabolism, abnormal 1 MONDO:0800046; Other disorders of trace element metabolism
Metal Metabolism Disorders v0.45 SLC30A9 Bryony Thompson gene: SLC30A9 was added
gene: SLC30A9 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC30A9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A9 were set to 37041080
Phenotypes for gene: SLC30A9 were set to Birk-Landau-Perez syndrome (MIM#617595); Disorders of zinc metabolism
Metal Metabolism Disorders v0.45 SLC39A13 Bryony Thompson gene: SLC39A13 was added
gene: SLC39A13 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A13 were set to 18985159, 18513683
Phenotypes for gene: SLC39A13 were set to Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0012873; Disorders of zinc metabolism
Metal Metabolism Disorders v0.45 SLC30A2 Bryony Thompson gene: SLC30A2 was added
gene: SLC30A2 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC30A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC30A2 were set to 17065149, 22733820, 32278324, 30450693, 28665435
Phenotypes for gene: SLC30A2 were set to Zinc deficiency, transient neonatal , MIM#608118; Disorders of zinc metabolism
Metal Metabolism Disorders v0.45 SLC39A4 Bryony Thompson gene: SLC39A4 was added
gene: SLC39A4 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A4 were set to 19370757
Phenotypes for gene: SLC39A4 were set to acrodermatitis enteropathica MONDO:0008713; Disorders of zinc metabolism
Metal Metabolism Disorders v0.45 SLC39A8 Bryony Thompson gene: SLC39A8 was added
gene: SLC39A8 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A8 were set to 26637978, 26637979
Phenotypes for gene: SLC39A8 were set to SLC39A8-CDG MONDO:0014746; Other disorders of trace element metabolism
Metal Metabolism Disorders v0.45 SLC39A14 Bryony Thompson gene: SLC39A14 was added
gene: SLC39A14 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A14 were set to 27231142, 29685658
Phenotypes for gene: SLC39A14 were set to hypermanganesemia with dystonia 2 MONDO:0014864; Disorders of magnesium metabolism
Metal Metabolism Disorders v0.45 SLC30A10 Bryony Thompson gene: SLC30A10 was added
gene: SLC30A10 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to 22341972, 22341971, 29193034
Phenotypes for gene: SLC30A10 were set to hypermanganesemia syndrome MONDO:0013208; Disorders of magnesium metabolism
Metal Metabolism Disorders v0.45 TFRC Bryony Thompson gene: TFRC was added
gene: TFRC was added to Metal Metabolism Disorders. Sources: Expert Review Amber
Mode of inheritance for gene: TFRC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFRC were set to 26642240
Phenotypes for gene: TFRC were set to Disorders of iron metabolism; TFRC-related combined immunodeficiency MONDO:0014760
Metal Metabolism Disorders v0.45 SLC33A1 Bryony Thompson gene: SLC33A1 was added
gene: SLC33A1 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC33A1 were set to 31194315
Phenotypes for gene: SLC33A1 were set to Disorders of copper metabolism; Huppke-Brendel syndrome MONDO:0013772
Metal Metabolism Disorders v0.45 AP1S1 Bryony Thompson gene: AP1S1 was added
gene: AP1S1 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1S1 were set to 31399000
Phenotypes for gene: AP1S1 were set to MEDNIK syndrome MONDO:0012251; Disorders of copper metabolism
Metal Metabolism Disorders v0.45 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 20170900, 33137485, 31969342, 31558336
Phenotypes for gene: ATP7A were set to Disorders of copper metabolism; Menkes disease MONDO:0010651, occipital Horn Syndrome (OHS, OMIM #304150), X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489)
Metal Metabolism Disorders v0.45 MOCOS Bryony Thompson gene: MOCOS was added
gene: MOCOS was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: MOCOS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCOS were set to 25370766, 17368066, 34356852
Phenotypes for gene: MOCOS were set to Disorders of molybdenum cofactor metabolism; xanthinuria type II MONDO:0011346
Metal Metabolism Disorders v0.45 GPHN Bryony Thompson gene: GPHN was added
gene: GPHN was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPHN were set to 27604308, 11095995, 22040219, 9812897
Phenotypes for gene: GPHN were set to Disorders of molybdenum cofactor metabolism; sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:0014212
Metal Metabolism Disorders v0.45 MOCS2 Bryony Thompson gene: MOCS2 was added
gene: MOCS2 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCS2 were set to 27604308, 10053004
Phenotypes for gene: MOCS2 were set to sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0009644; Disorders of molybdenum cofactor metabolism
Metal Metabolism Disorders v0.45 MOCS1 Bryony Thompson gene: MOCS1 was added
gene: MOCS1 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCS1 were set to 27604308, 9731530
Phenotypes for gene: MOCS1 were set to Disorders of molybdenum cofactor metabolism; sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0009643
Lysosomal Storage Disorder v1.11 CTSC Bryony Thompson gene: CTSC was added
gene: CTSC was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSC were set to 31282082; 29884839
Phenotypes for gene: CTSC were set to ectodermal dysplasia syndrome MONDO:0019287; Other disorders of complex molecule degradation
Lysosomal Storage Disorder v1.11 SCARB2 Bryony Thompson gene: SCARB2 was added
gene: SCARB2 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCARB2 were set to 26677510; 29884839
Phenotypes for gene: SCARB2 were set to action myoclonus-renal failure syndrome MONDO:0009699; Other disorders of complex molecule degradation
Lysosomal Storage Disorder v1.11 KCTD7 Bryony Thompson gene: KCTD7 was added
gene: KCTD7 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCTD7 were set to 36368077; 30295347; 29884839
Phenotypes for gene: KCTD7 were set to Progressive myoclonus epilepsy MONDO:0020074; Neuronal ceroid lipofuscinosis
Lysosomal Storage Disorder v1.11 GRN Bryony Thompson gene: GRN was added
gene: GRN was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: GRN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GRN were set to 37981505; 38347588; 29884839
Phenotypes for gene: GRN were set to neuronal ceroid lipofuscinosis MONDO:0016295; GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842
Lysosomal Storage Disorder v1.11 RAB7A Bryony Thompson gene: RAB7A was added
gene: RAB7A was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB7A were set to 35159308; 36449254; 29884839
Phenotypes for gene: RAB7A were set to Disorders of autophagy; Charcot-Marie-Tooth disease type 2 MONDO:0018993
Lysosomal Storage Disorder v1.11 TBK1 Bryony Thompson gene: TBK1 was added
gene: TBK1 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: TBK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBK1 were set to 38168426; 38517332; 29884839
Phenotypes for gene: TBK1 were set to frontotemporal dementia with motor neuron disease MONDO:0017161; Disorders of autophagy
Lysosomal Storage Disorder v1.11 TECPR2 Bryony Thompson gene: TECPR2 was added
gene: TECPR2 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECPR2 were set to 33213269; 34130600; 29884839
Phenotypes for gene: TECPR2 were set to Disorders of autophagy; hereditary spastic paraplegia 49 MONDO:0014016
Lysosomal Storage Disorder v1.11 AP5Z1 Bryony Thompson gene: AP5Z1 was added
gene: AP5Z1 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP5Z1 were set to 26085577; 29884839
Phenotypes for gene: AP5Z1 were set to Disorders of autophagy; hereditary spastic paraplegia MONDO:0019064
Lysosomal Storage Disorder v1.11 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to 36029068; 34130600; 29884839
Phenotypes for gene: ZFYVE26 were set to Disorders of autophagy; hereditary spastic paraplegia 15 MONDO:0010044
Lysosomal Storage Disorder v1.11 SPG11 Bryony Thompson gene: SPG11 was added
gene: SPG11 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 37871017; 37709208; 29884839
Phenotypes for gene: SPG11 were set to Disorders of autophagy; hereditary spastic paraplegia 11 MONDO:0011445
Lysosomal Storage Disorder v1.11 SNX14 Bryony Thompson gene: SNX14 was added
gene: SNX14 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX14 were set to 34130600; 29884839
Phenotypes for gene: SNX14 were set to Disorders of autophagy; autosomal recessive spinocerebellar ataxia 20 MONDO:0014601
Lysosomal Storage Disorder v1.11 WDR45 Bryony Thompson gene: WDR45 was added
gene: WDR45 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: WDR45 were set to 38465922; 29884839
Phenotypes for gene: WDR45 were set to Disorders of autophagy; X-linked complex neurodevelopmental disorder MONDO:0100148
Lysosomal Storage Disorder v1.11 EPG5 Bryony Thompson gene: EPG5 was added
gene: EPG5 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 33674710; 34130600; 29884839
Phenotypes for gene: EPG5 were set to Disorders of autophagy; Vici syndrome MONDO:0009452
Haem degradation and bilirubin metabolism defects v0.17 SLCO1B3 Bryony Thompson gene: SLCO1B3 was added
gene: SLCO1B3 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: SLCO1B3 was set to Other
Publications for gene: SLCO1B3 were set to 36964102, 33860121
Phenotypes for gene: SLCO1B3 were set to Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport
Haem degradation and bilirubin metabolism defects v0.17 SLC10A2 Bryony Thompson gene: SLC10A2 was added
gene: SLC10A2 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Red
Mode of inheritance for gene: SLC10A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A2 were set to 9109432
Phenotypes for gene: SLC10A2 were set to bile acid malabsorption, primary, 1 MONDO:0013214; Disorders of bile acid metabolism
Haem degradation and bilirubin metabolism defects v0.17 NR1H4 Bryony Thompson gene: NR1H4 was added
gene: NR1H4 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: NR1H4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NR1H4 were set to 26888176, 32443034
Phenotypes for gene: NR1H4 were set to Disorders of bile acid metabolism; cholestasis, progressive familial intrahepatic, 5 MONDO:0014884
Haem degradation and bilirubin metabolism defects v0.17 ABCB4 Bryony Thompson gene: ABCB4 was added
gene: ABCB4 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCB4 were set to 8666348
Phenotypes for gene: ABCB4 were set to Disorders of bile acid metabolism; progressive familial intrahepatic cholestasis type 3 MONDO:0011214
Haem degradation and bilirubin metabolism defects v0.17 ABCB11 Bryony Thompson gene: ABCB11 was added
gene: ABCB11 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCB11 were set to 9806540
Phenotypes for gene: ABCB11 were set to progressive familial intrahepatic cholestasis type 2 MONDO:0011156; Disorders of bile acid metabolism
Haem degradation and bilirubin metabolism defects v0.17 ATP8B1 Bryony Thompson gene: ATP8B1 was added
gene: ATP8B1 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP8B1 were set to 9500542
Phenotypes for gene: ATP8B1 were set to progressive familial intrahepatic cholestasis type 1 MONDO:0008892; Disorders of bile acid metabolism
Haem degradation and bilirubin metabolism defects v0.17 SLCO1B1 Bryony Thompson gene: SLCO1B1 was added
gene: SLCO1B1 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: SLCO1B1 was set to Other
Publications for gene: SLCO1B1 were set to 36964102, 33860121
Phenotypes for gene: SLCO1B1 were set to Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport
Haem degradation and bilirubin metabolism defects v0.17 ABCC2 Bryony Thompson gene: ABCC2 was added
gene: ABCC2 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: ABCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCC2 were set to 21044052, 11477083
Phenotypes for gene: ABCC2 were set to Disorders of haem degradation and bilirubin metabolism; Dubin-Johnson syndrome MONDO:0009380
Haem degradation and bilirubin metabolism defects v0.17 UGT1A1 Bryony Thompson gene: UGT1A1 was added
gene: UGT1A1 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGT1A1 were set to 26595536
Phenotypes for gene: UGT1A1 were set to Disorders of haem degradation and bilirubin metabolism; Crigler-Najjar syndrome type 1 MONDO:0021020, Crigler-Najjar syndrome type 2 MONDO:0011725
Haem degradation and bilirubin metabolism defects v0.17 BLVRA Bryony Thompson gene: BLVRA was added
gene: BLVRA was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Amber
Mode of inheritance for gene: BLVRA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BLVRA were set to 19580635, 21278388
Phenotypes for gene: BLVRA were set to Disorders of haem degradation and bilirubin metabolism; hyperbiliverdinemia MONDO:0013595
Haem degradation and bilirubin metabolism defects v0.17 HMOX1 Bryony Thompson gene: HMOX1 was added
gene: HMOX1 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: HMOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMOX1 were set to 21088618, 9884342, 20844238, 33066778
Phenotypes for gene: HMOX1 were set to Disorders of haem degradation and bilirubin metabolism; heme oxygenase 1 deficiency MONDO:0013536
Haem degradation and bilirubin metabolism defects v0.17 CYB5A Bryony Thompson gene: CYB5A was added
gene: CYB5A was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Amber
Mode of inheritance for gene: CYB5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYB5A were set to 22170710, 20080843, 32051920, 3951505
Phenotypes for gene: CYB5A were set to Disorders of haem degradation and bilirubin metabolism; methemoglobinemia type 4 MONDO:0009605
Haem degradation and bilirubin metabolism defects v0.17 CYB5R3 Bryony Thompson gene: CYB5R3 was added
gene: CYB5R3 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYB5R3 were set to 2107882, 1707593, 12393396
Phenotypes for gene: CYB5R3 were set to Disorders of haem degradation and bilirubin metabolism; methemoglobinemia due to deficiency of methemoglobin reductase MONDO:0009606
Haem degradation and bilirubin metabolism defects v0.17 ABCB6 Bryony Thompson gene: ABCB6 was added
gene: ABCB6 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Red
Mode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABCB6 were set to 24947683
Phenotypes for gene: ABCB6 were set to familial pseudohyperkalemia MONDO:0012204; Disorders of heme synthesis and porphyrias
Dyslipidaemia v0.41 SAR1B Bryony Thompson Marked gene: SAR1B as ready
Dyslipidaemia v0.41 SAR1B Bryony Thompson Gene: sar1b has been classified as Green List (High Evidence).
Dyslipidaemia v0.41 SAR1B Bryony Thompson Classified gene: SAR1B as Green List (high evidence)
Dyslipidaemia v0.41 SAR1B Bryony Thompson Gene: sar1b has been classified as Green List (High Evidence).
Dyslipidaemia v0.40 SAR1B Bryony Thompson gene: SAR1B was added
gene: SAR1B was added to Dyslipidaemia. Sources: Expert list
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAR1B were set to 12692552
Phenotypes for gene: SAR1B were set to Chylomicron retention disease, MIM# 246700
Review for gene: SAR1B was set to GREEN
gene: SAR1B was marked as current diagnostic
Added comment: Well-established inborn error of lipoprotein metabolism
Sources: Expert list
Dyslipidaemia v0.39 ANGPTL3 Bryony Thompson Classified gene: ANGPTL3 as Green List (high evidence)
Dyslipidaemia v0.39 ANGPTL3 Bryony Thompson Gene: angptl3 has been classified as Green List (High Evidence).
Dyslipidaemia v0.38 ANGPTL3 Bryony Thompson gene: ANGPTL3 was added
gene: ANGPTL3 was added to Dyslipidaemia. Sources: Expert list
Mode of inheritance for gene: ANGPTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANGPTL3 were set to 23150577; 20942659; 22155345; 22062970
Phenotypes for gene: ANGPTL3 were set to Hypobetalipoproteinemia, familial, 2 MIM#605019
Review for gene: ANGPTL3 was set to GREEN
gene: ANGPTL3 was marked as current diagnostic
Added comment: Well-established inborn error of lipoprotein metabolism
Sources: Expert list
Vitamin metabolism disorders v1.2 UBIAD1 Bryony Thompson gene: UBIAD1 was added
gene: UBIAD1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: UBIAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBIAD1 were set to 18176953, 23169578, 31323021, 30785396, 30223810
Phenotypes for gene: UBIAD1 were set to Schnyder corneal dystrophy MONDO:0007374 MIM#611632; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 EPHX1 Bryony Thompson gene: EPHX1 was added
gene: EPHX1 was added to Vitamin metabolism disorders. Sources: Expert Review Red
Mode of inheritance for gene: EPHX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPHX1 were set to 34342583
Phenotypes for gene: EPHX1 were set to Familial hypercholanemia MONDO:0011905; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 VKORC1 Bryony Thompson gene: VKORC1 was added
gene: VKORC1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VKORC1 were set to 14765194
Phenotypes for gene: VKORC1 were set to vitamin K-dependent clotting factors, combined deficiency of, type 2 MONDO:0011837; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 GGCX Bryony Thompson gene: GGCX was added
gene: GGCX was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GGCX were set to 32785662, 30531603, 26758921
Phenotypes for gene: GGCX were set to vitamin K-dependent clotting factors, combined deficiency of, type 1 MONDO:0010187; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 TTPA Bryony Thompson gene: TTPA was added
gene: TTPA was added to Vitamin metabolism disorders. Sources: Expert Review green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTPA were set to 27604308, 7719340
Phenotypes for gene: TTPA were set to familial isolated deficiency of vitamin E MONDO:0010188; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 CYP24A1 Bryony Thompson gene: CYP24A1 was added
gene: CYP24A1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP24A1 were set to 21675912, 22047572, 33516786, 33186763, 32866123, 32743688
Phenotypes for gene: CYP24A1 were set to Other disorders of vitamin metabolism; hypercalcemia, infantile, 1 MONDO:0020739
Vitamin metabolism disorders v1.2 VDR Bryony Thompson gene: VDR was added
gene: VDR was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VDR were set to 2849209, 9005998, 17970811
Phenotypes for gene: VDR were set to vitamin D-dependent rickets, type 2A MONDO:0010186, Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 CYP2R1 Bryony Thompson gene: CYP2R1 was added
gene: CYP2R1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2R1 were set to 15128933, 28548312
Phenotypes for gene: CYP2R1 were set to vitamin D hydroxylation-deficient rickets, type 1B MONDO:0010810; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 CYP27B1 Bryony Thompson gene: CYP27B1 was added
gene: CYP27B1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27B1 were set to 9486994, 9415400, 12050193, 27473561, 34492747, 33823104
Phenotypes for gene: CYP27B1 were set to vitamin D-dependent rickets, type 1A MONDO:0020723; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 RLBP1 Bryony Thompson gene: RLBP1 was added
gene: RLBP1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: RLBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RLBP1 were set to 9326942
Phenotypes for gene: RLBP1 were set to Other disorders of vitamin metabolism; RLBP1-related retinopathy MONDO:0100444
Vitamin metabolism disorders v1.2 ALDH1A3 Bryony Thompson gene: ALDH1A3 was added
gene: ALDH1A3 was added to Vitamin metabolism disorders. Sources: Expert Review Red
Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A3 were set to 23312594, 23591992, 30200890
Phenotypes for gene: ALDH1A3 were set to Isolated microphthalmia 8 MONDO:0014050; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 RBP3 Bryony Thompson gene: RBP3 was added
gene: RBP3 was added to Vitamin metabolism disorders. Sources: Expert Review Red
Mode of inheritance for gene: RBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBP3 were set to Retinitis pigmentosa 66 MONDO:0014093; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 RDH12 Bryony Thompson gene: RDH12 was added
gene: RDH12 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: RDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RDH12 were set to 15322982; 16269441
Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13 MONDO:0012990; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 RDH5 Bryony Thompson gene: RDH5 was added
gene: RDH5 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: RDH5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RDH5 were set to 32232344; 10369264
Phenotypes for gene: RDH5 were set to Fundus albipunctatus; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 RPE65 Bryony Thompson gene: RPE65 was added
gene: RPE65 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPE65 were set to 9326941
Phenotypes for gene: RPE65 were set to Disorders of vitamin A metabolism; RPE65-related recessive retinopathy MONDO:0100368
Vitamin metabolism disorders v1.2 LRAT Bryony Thompson gene: LRAT was added
gene: LRAT was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRAT were set to 11381255
Phenotypes for gene: LRAT were set to Leber congenital amaurosis 14
Vitamin metabolism disorders v1.2 STRA6 Bryony Thompson gene: STRA6 was added
gene: STRA6 was added to Vitamin metabolism disorders. Sources: Expert Review Amber
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STRA6 were set to 21901792, 18316031, 24852372
Phenotypes for gene: STRA6 were set to Matthew-Wood syndrome MONDO:0011010; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 RBP4 Bryony Thompson gene: RBP4 was added
gene: RBP4 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: RBP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RBP4 were set to Other disorders of vitamin metabolism; microphthalmia, isolated, with coloboma 10 MONDO:0014635
Vitamin metabolism disorders v1.2 BCO1 Bryony Thompson gene: BCO1 was added
gene: BCO1 was added to Vitamin metabolism disorders. Sources: Expert Review Red
Mode of inheritance for gene: BCO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BCO1 were set to 17951468
Phenotypes for gene: BCO1 were set to Other disorders of vitamin metabolism; hereditary hypercarotenemia and vitamin A deficiency MONDO:0007272
Vitamin metabolism disorders v1.2 SLC2A10 Bryony Thompson gene: SLC2A10 was added
gene: SLC2A10 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A10 were set to 16550171, 17935213
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome MONDO:0008818; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 ALPL Bryony Thompson gene: ALPL was added
gene: ALPL was added to Vitamin metabolism disorders. Sources: Expert review Green
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALPL were set to 3174660, 1409720
Phenotypes for gene: ALPL were set to disorder of bone metabolism; Hypophosphatasia; Disorders of pyridoxine metabolism
Vitamin metabolism disorders v1.2 PLPBP Bryony Thompson gene: PLPBP was added
gene: PLPBP was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLPBP were set to 30668673, 36795901
Phenotypes for gene: PLPBP were set to pyridoxine-dependent epilepsy MONDO:0009945; Disorders of pyridoxine metabolism
Vitamin metabolism disorders v1.2 PNPO Bryony Thompson gene: PNPO was added
gene: PNPO was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPO were set to 34769443, 33981986, 33748042, 32888189
Phenotypes for gene: PNPO were set to Pyridoxal phosphate-responsive seizures MONDO:0012407; Disorders of pyridoxine metabolism
Vitamin metabolism disorders v1.2 COASY Bryony Thompson gene: COASY was added
gene: COASY was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 24360804, 28489334, 27021474
Phenotypes for gene: COASY were set to neurodegeneration with brain iron accumulation 6 MONDO:0014290; Disorders of pantothenate and CoA metabolism
Vitamin metabolism disorders v1.2 PANK2 Bryony Thompson gene: PANK2 was added
gene: PANK2 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PANK2 were set to 25778941, 11479594, 12510040, 28863176
Phenotypes for gene: PANK2 were set to pantothenate kinase-associated neurodegeneration MONDO:0009319; Disorders of pantothenate and CoA metabolism
Vitamin metabolism disorders v1.2 NNT Bryony Thompson gene: NNT was added
gene: NNT was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NNT were set to 26309815, 22634753
Phenotypes for gene: NNT were set to Disorders of niacin and NAD metabolism; glucocorticoid deficiency 4 MONDO:0013874
Vitamin metabolism disorders v1.2 NAXD Bryony Thompson gene: NAXD was added
gene: NAXD was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXD were set to 30576410
Phenotypes for gene: NAXD were set to Disorders of niacin and NAD metabolism; Mitochondrial disease MONDO:0044970
Vitamin metabolism disorders v1.2 NAXE Bryony Thompson gene: NAXE was added
gene: NAXE was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXE were set to 27122014, 27616477, 31758406
Phenotypes for gene: NAXE were set to Apolipoprotein A-I binding protein deficiency; Disorders of niacin and NAD metabolism
Vitamin metabolism disorders v1.2 NADK2 Bryony Thompson gene: NADK2 was added
gene: NADK2 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADK2 were set to 24847004, 27940755, 23212377, 28923496, 29388319
Phenotypes for gene: NADK2 were set to Disorders of niacin and NAD metabolism; 2,4-dienoyl-CoA reductase deficiency, MIM# 616034
Vitamin metabolism disorders v1.2 NMNAT1 Bryony Thompson gene: NMNAT1 was added
gene: NMNAT1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT1 were set to 32533184
Phenotypes for gene: NMNAT1 were set to Disorders of niacin and NAD metabolism; Leber congenital amaurosis 9 MONDO:0012056
Vitamin metabolism disorders v1.2 ETFDH Bryony Thompson gene: ETFDH was added
gene: ETFDH was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFDH were set to 17412732, 27038534, 19249206, 15710863, 32804429
Phenotypes for gene: ETFDH were set to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Disorders of mitochondrial fatty acid oxidation
Vitamin metabolism disorders v1.2 ETFB Bryony Thompson gene: ETFB was added
gene: ETFB was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFB were set to 7912128, 12815589, 27081516, 12706375, 30626930
Phenotypes for gene: ETFB were set to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Disorders of mitochondrial fatty acid oxidation
Vitamin metabolism disorders v1.2 ETFA Bryony Thompson gene: ETFA was added
gene: ETFA was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFA were set to 1430199, 1882842, 21347544
Phenotypes for gene: ETFA were set to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Disorders of mitochondrial fatty acid oxidation
Vitamin metabolism disorders v1.2 SLC25A32 Bryony Thompson gene: SLC25A32 was added
gene: SLC25A32 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A32 were set to 26933868; 28443623
Phenotypes for gene: SLC25A32 were set to Exercise intolerance, riboflavin-responsive, MONDO:0014795; Disorders of riboflavin metabolism
Vitamin metabolism disorders v1.2 FLAD1 Bryony Thompson gene: FLAD1 was added
gene: FLAD1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLAD1 were set to 34454814,34718578, 31392824, 30982706, 30311138, 30427553, 28433476, 27259049, 25058219
Phenotypes for gene: FLAD1 were set to myopathy with abnormal lipid metabolism MONDO:0009703; Disorders of riboflavin metabolism
Vitamin metabolism disorders v1.2 SLC52A2 Bryony Thompson gene: SLC52A2 was added
gene: SLC52A2 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A2 were set to 26973221
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-van Laere syndrome 2 MONDO:0013867; Disorders of riboflavin metabolism
Vitamin metabolism disorders v1.2 SLC52A3 Bryony Thompson gene: SLC52A3 was added
gene: SLC52A3 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A3 were set to 26973221
Phenotypes for gene: SLC52A3 were set to Disorders of riboflavin metabolism; Brown-Vialetto-van Laere syndrome 1 MONDO:0024537
Vitamin metabolism disorders v1.2 MTHFD1 Bryony Thompson gene: MTHFD1 was added
gene: MTHFD1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFD1 were set to 32414565; 19033438
Phenotypes for gene: MTHFD1 were set to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MONDO:0060611; Disorders of folate metabolism
Vitamin metabolism disorders v1.2 MTHFR Bryony Thompson gene: MTHFR was added
gene: MTHFR was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFR were set to 7920641; 26872964
Phenotypes for gene: MTHFR were set to Homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353; Disorders of folate metabolism
Vitamin metabolism disorders v1.2 FOLR1 Bryony Thompson gene: FOLR1 was added
gene: FOLR1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOLR1 were set to 27743887; 30420205; 19732866
Phenotypes for gene: FOLR1 were set to Neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0013110; Disorders of folate metabolism
Vitamin metabolism disorders v1.2 SLC46A1 Bryony Thompson gene: SLC46A1 was added
gene: SLC46A1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC46A1 were set to 17129779; 7446347; 21333572
Phenotypes for gene: SLC46A1 were set to Hereditary folate malabsorption MONDO:0009238; Disorders of folate metabolism
Vitamin metabolism disorders v1.2 MMAA Bryony Thompson gene: MMAA was added
gene: MMAA was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMAA were set to 12438653; 15523652
Phenotypes for gene: MMAA were set to Disorders of cobalamin metabolism; methylmalonic aciduria, cblA type MONDO:0009613
Vitamin metabolism disorders v1.2 CD320 Bryony Thompson gene: CD320 was added
gene: CD320 was added to Vitamin metabolism disorders. Sources: Expert Review Amber
Mode of inheritance for gene: CD320 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD320 were set to 27604308; 29663633; 30303736
Phenotypes for gene: CD320 were set to Methylmalonic acidemia due to transcobalamin receptor defect MONDO:0013341
Vitamin metabolism disorders v1.2 HLCS Bryony Thompson gene: HLCS was added
gene: HLCS was added to Vitamin metabolism disorders. Sources: Expert Review Green,ClinGen
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HLCS were set to 10190325
Phenotypes for gene: HLCS were set to Disorders of biotin metabolism; holocarboxylase synthetase deficiency MONDO:0009666
Metabolic Disorders Superpanel v8.226 Bryony Thompson Changed child panels to: Miscellaneous Metabolic Disorders; Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Lysosomal Storage Disorder; Neurotransmitter Defects; Aminoacidopathy; Glycogen Storage Diseases; Vitamin metabolism disorders; Mitochondrial disease; Monogenic Diabetes; Peroxisomal Disorders; Metal Metabolism Disorders; Dyslipidaemia; Haem degradation and bilirubin metabolism defects; Hyperammonaemia; Nucleotide metabolism disorders
Nucleotide metabolism disorders v0.1 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Nucleotide metabolism disorders v0.0 AGXT2 Bryony Thompson gene: AGXT2 was added
gene: AGXT2 was added to Nucleotide metabolism disorders. Sources: Expert Review Red
Mode of inheritance for gene: AGXT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGXT2 were set to 21572414
Phenotypes for gene: AGXT2 were set to Beta-aminoisobutyric acid, urinary excretion of MIM#210100
Nucleotide metabolism disorders v0.0 UPB1 Bryony Thompson gene: UPB1 was added
gene: UPB1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UPB1 were set to 24526388; 1796483; 27604308; 15385443; 25638458; 22525402
Phenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency MONDO:0013164; Disorders of pyrimidine metabolism
Nucleotide metabolism disorders v0.0 DPYS Bryony Thompson gene: DPYS was added
gene: DPYS was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: DPYS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPYS were set to 9718352; 29054612; 30384990
Phenotypes for gene: DPYS were set to Dihydropyrimidinuria MONDO:0009111; Disorders of pyrimidine metabolism
Nucleotide metabolism disorders v0.0 DPYD Bryony Thompson gene: DPYD was added
gene: DPYD was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPYD were set to 8051923; 29152729
Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency MONDO:0010130; Disorders of pyrimidine metabolism
Nucleotide metabolism disorders v0.0 SLC29A3 Bryony Thompson gene: SLC29A3 was added
gene: SLC29A3 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC29A3 were set to 22238637; 18940313; 19336477
Phenotypes for gene: SLC29A3 were set to Disorders of ectonucleotide and nucleic acid metabolism; H syndrome MONDO:0011273
Nucleotide metabolism disorders v0.0 SLC29A1 Bryony Thompson gene: SLC29A1 was added
gene: SLC29A1 was added to Nucleotide metabolism disorders. Sources: Expert Review Red
Mode of inheritance for gene: SLC29A1 was set to Unknown
Nucleotide metabolism disorders v0.0 NT5E Bryony Thompson gene: NT5E was added
gene: NT5E was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: NT5E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5E were set to 21288095
Phenotypes for gene: NT5E were set to Disorders of ectonucleotide and nucleic acid metabolism; hereditary arterial and articular multiple calcification syndrome MONDO:0008895
Nucleotide metabolism disorders v0.0 ENPP1 Bryony Thompson gene: ENPP1 was added
gene: ENPP1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: ENPP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ENPP1 were set to 20016754; 12881724
Phenotypes for gene: ENPP1 were set to Cole disease, MIM# 615522; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312; Arterial calcification, generalized, of infancy, 1, MIM# 208000
Nucleotide metabolism disorders v0.0 ABCC6 Bryony Thompson gene: ABCC6 was added
gene: ABCC6 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCC6 were set to 28102862; 11536079; 33005041; 34355424
Nucleotide metabolism disorders v0.0 OAS1 Bryony Thompson gene: OAS1 was added
gene: OAS1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OAS1 were set to 29455859; 34145065
Phenotypes for gene: OAS1 were set to Disorders of ectonucleotide and nucleic acid metabolism; pulmonary alveolar proteinosis with hypogammaglobulinemia MONDO:0020840
Nucleotide metabolism disorders v0.0 TMEM173 Bryony Thompson gene: TMEM173 was added
gene: TMEM173 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: TMEM173 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM173 were set to 25029335; 25401470
Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy with onset in infancy MONDO:0014405
Nucleotide metabolism disorders v0.0 IFIH1 Bryony Thompson gene: IFIH1 was added
gene: IFIH1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: IFIH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: IFIH1 were set to 34185153; 24686847
Phenotypes for gene: IFIH1 were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome 7, MIM#615846; Early-onset Inflammatory Bowel Disease
Nucleotide metabolism disorders v0.0 ADAR Bryony Thompson gene: ADAR was added
gene: ADAR was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 29221912; 23001123; 24262145
Phenotypes for gene: ADAR were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome MONDO:0018866
Nucleotide metabolism disorders v0.0 SAMHD1 Bryony Thompson gene: SAMHD1 was added
gene: SAMHD1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAMHD1 were set to 33307271; 21102625; 19525956; 20301648
Phenotypes for gene: SAMHD1 were set to Disorders of mitochondrial nucleotide pool maintenance; Aicardi-Goutieres syndrome MONDO:0018866
Nucleotide metabolism disorders v0.0 RNASET2 Bryony Thompson gene: RNASET2 was added
gene: RNASET2 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASET2 were set to 19525954; 29336640; 15851732; 27091087; 31349848; 18545798
Phenotypes for gene: RNASET2 were set to Disorders of ectonucleotide and nucleic acid metabolism; cystic leukoencephalopathy without megalencephaly MONDO:0013058
Nucleotide metabolism disorders v0.0 RNASEH2A Bryony Thompson gene: RNASEH2A was added
gene: RNASEH2A was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2A were set to 25604658; 23592335; 20301648
Phenotypes for gene: RNASEH2A were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome MONDO:0018866
Nucleotide metabolism disorders v0.0 RNASEH2C Bryony Thompson gene: RNASEH2C was added
gene: RNASEH2C was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2C were set to 24183309; 23322642; 16845400
Phenotypes for gene: RNASEH2C were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome MONDO:0018866
Nucleotide metabolism disorders v0.0 RNASEH2B Bryony Thompson gene: RNASEH2B was added
gene: RNASEH2B was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2B were set to 33307271; 29239743; 16845400
Phenotypes for gene: RNASEH2B were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome MONDO:0018866
Nucleotide metabolism disorders v0.0 TREX1 Bryony Thompson gene: TREX1 was added
gene: TREX1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TREX1 were set to 21937424; 17357087; 16845398
Phenotypes for gene: TREX1 were set to Disorder of nucleotide metabolism; Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750
Nucleotide metabolism disorders v0.0 SLC2A9 Bryony Thompson gene: SLC2A9 was added
gene: SLC2A9 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A9 were set to 19926891; 19026395; 25966807; 21256783; 21810765
Phenotypes for gene: SLC2A9 were set to hereditary renal hypouricemia MONDO:0009071; Disorders of purine metabolism
Nucleotide metabolism disorders v0.0 SLC22A12 Bryony Thompson gene: SLC22A12 was added
gene: SLC22A12 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC22A12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A12 were set to 14655203; 26821810; 34756726; 34829836; 34412930
Phenotypes for gene: SLC22A12 were set to hereditary renal hypouricemia MONDO:0009071; Disorders of purine metabolism
Nucleotide metabolism disorders v0.0 ITPA Bryony Thompson gene: ITPA was added
gene: ITPA was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITPA were set to 12384777; 27604308
Phenotypes for gene: ITPA were set to Disorders of purine metabolism; Inosine triphosphatase deficiency MIM#613850; Developmental and epileptic encephalopathy 35 MIM#616647
Nucleotide metabolism disorders v0.0 TPMT Bryony Thompson gene: TPMT was added
gene: TPMT was added to Nucleotide metabolism disorders. Sources: Expert Review Red
Mode of inheritance for gene: TPMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPMT were set to {Thiopurines, poor metabolism of, 1} 610460
Nucleotide metabolism disorders v0.0 IMPDH1 Bryony Thompson gene: IMPDH1 was added
gene: IMPDH1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: IMPDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IMPDH1 were set to 11875049; 16384941; 11875050
Phenotypes for gene: IMPDH1 were set to Disorders of purine metabolism; retinitis pigmentosa MONDO:0019200
Nucleotide metabolism disorders v0.0 AK2 Bryony Thompson gene: AK2 was added
gene: AK2 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AK2 were set to 19043417; 19043416
Phenotypes for gene: AK2 were set to reticular dysgenesis MONDO:0009973; Disorders of purine metabolism
Nucleotide metabolism disorders v0.0 AK1 Bryony Thompson gene: AK1 was added
gene: AK1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: AK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AK1 were set to 2542324; 34321014; 9432020; 10233365
Phenotypes for gene: AK1 were set to hemolytic anemia due to adenylate kinase deficiency MONDO:0012967; Disorders of purine metabolism
Nucleotide metabolism disorders v0.0 APRT Bryony Thompson gene: APRT was added
gene: APRT was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APRT were set to 7915931; 2227934; 1353080; 3680503
Phenotypes for gene: APRT were set to adenine phosphoribosyltransferase deficiency MONDO:0013869; Disorders of purine metabolism
Nucleotide metabolism disorders v0.0 HPRT1 Bryony Thompson gene: HPRT1 was added
gene: HPRT1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HPRT1 were set to 2928313; 23975452; 20176575
Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome MONDO:0010298; Disorders of purine metabolism
Nucleotide metabolism disorders v0.0 XDH Bryony Thompson gene: XDH was added
gene: XDH was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: XDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XDH were set to 32071838; 29723117
Phenotypes for gene: XDH were set to xanthinuria type I MONDO:0010209; Disorders of purine metabolism
Nucleotide metabolism disorders v0.0 PNP Bryony Thompson gene: PNP was added
gene: PNP was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNP were set to 1384322; 11453975; 32695102; 3029074; 32514656
Phenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179; Disorders of purine metabolism
Nucleotide metabolism disorders v0.0 ADA2 Bryony Thompson gene: ADA2 was added
gene: ADA2 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA2 were set to 24552284; 35095905
Phenotypes for gene: ADA2 were set to Disorders of purine metabolism; Deficiency of adenosine deaminase 2 MONDO:0100317
Nucleotide metabolism disorders v0.0 ADA Bryony Thompson gene: ADA was added
gene: ADA was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA were set to 3684597; 3475710; 2783588; 1680289
Phenotypes for gene: ADA were set to Severe combined immunodeficiency due to ADA deficiency MIM#102700; Adenosine deaminase deficiency, partial MIM#102700; disorder of purine metabolism
Nucleotide metabolism disorders v0.0 AMPD3 Bryony Thompson gene: AMPD3 was added
gene: AMPD3 was added to Nucleotide metabolism disorders. Sources: Expert Review Red
Mode of inheritance for gene: AMPD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD3 were set to 8004104; 24940686; 11139257
Phenotypes for gene: AMPD3 were set to adenosine monophosphate deaminase deficiency MONDO:0013028
Nucleotide metabolism disorders v0.0 AMPD2 Bryony Thompson gene: AMPD2 was added
gene: AMPD2 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to 27066553; 23911318
Phenotypes for gene: AMPD2 were set to pontocerebellar hypoplasia type 9 MONDO:0014351; Disorders of purine metabolism
Nucleotide metabolism disorders v0.0 AMPD1 Bryony Thompson gene: AMPD1 was added
gene: AMPD1 was added to Nucleotide metabolism disorders. Sources: Expert Review Red
Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD1 were set to 27296017; 21343608
Phenotypes for gene: AMPD1 were set to adenosine monophosphate deaminase deficiency MONDO:0013028
Nucleotide metabolism disorders v0.0 ADSL Bryony Thompson gene: ADSL was added
gene: ADSL was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSL were set to 1302001; 22180458; 27626380; 18524658
Phenotypes for gene: ADSL were set to disorder of purine metabolism; Adenylosuccinase deficiency MIM#103050
Nucleotide metabolism disorders v0.0 PRPS1 Bryony Thompson gene: PRPS1 was added
gene: PRPS1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PRPS1 were set to 20380929; 17701900
Phenotypes for gene: PRPS1 were set to PRPS1 deficiency disorder MONDO:0100061; Disorders of purine metabolism
Nucleotide metabolism disorders v0.0 UNG Bryony Thompson gene: UNG was added
gene: UNG was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: UNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNG were set to 12958596; 23585684; 32135276
Phenotypes for gene: UNG were set to hyper-IgM syndrome type 5 MONDO:0011971; Disorders of ectonucleotide and nucleic acid metabolism
Nucleotide metabolism disorders v0.0 AICDA Bryony Thompson gene: AICDA was added
gene: AICDA was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: AICDA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AICDA were set to 10373455; 21700883; 14962793
Phenotypes for gene: AICDA were set to hyper-IgM syndrome type 2 MONDO:0011528; Disorders of ectonucleotide and nucleic acid metabolism
Nucleotide metabolism disorders v0.0 NT5C3A Bryony Thompson gene: NT5C3A was added
gene: NT5C3A was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5C3A were set to 11369620
Phenotypes for gene: NT5C3A were set to disorder of pyrimidine metabolism; Anemia, hemolytic, due to UMPH1 deficiency MIM#266120
Nucleotide metabolism disorders v0.0 UMPS Bryony Thompson gene: UMPS was added
gene: UMPS was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UMPS were set to 33489760; 9042911
Phenotypes for gene: UMPS were set to Orotic aciduria, MIM# 258900
Nucleotide metabolism disorders v0.0 DHODH Bryony Thompson gene: DHODH was added
gene: DHODH was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHODH were set to 19915526
Phenotypes for gene: DHODH were set to Miller syndrome MIM#263750; Disorders of pyrimidine metabolism
Nucleotide metabolism disorders v0.0 CAD Bryony Thompson gene: CAD was added
gene: CAD was added to Nucleotide metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAD were set to 25678555; 29884839; 28007989
Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM# 616457
Nucleotide metabolism disorders v0.0 Bryony Thompson Added panel Nucleotide metabolism disorders
Intellectual disability syndromic and non-syndromic v0.5821 SLC6A4 Sangavi Sivagnanasundram changed review comment from: DISPUTED classification by ClinGen ID and Autism GCEP on 06/01/2021 due to variants association with ASD having high frequencies in gnomAD - https://search.clinicalgenome.org/CCID:006198; to: DISPUTED classification by ClinGen ID and Autism GCEP on 06/01/2021. Variants in this gene associated with ASD having high frequencies in gnomAD - https://search.clinicalgenome.org/CCID:006198
Intellectual disability syndromic and non-syndromic v0.5821 SLC6A4 Sangavi Sivagnanasundram reviewed gene: SLC6A4: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006198; Phenotypes: autism spectrum disorder MONDO:0005258; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5821 SLC25A15 Rajkumar Krishnaswamy changed review comment from: Rare genetic disorder representing a heterogeneous disease with high clinical variability. Pyramidal dysfunction, developmental, cognitive and behavioural abnormalities have been reported. ID/mental retardation ranging from mild, moderate to severe have been reported in several cases usually manifesting in the childhood or as adult onset.; to: Rare genetic disorder representing a heterogeneous disease with high clinical variability. Lethargy, feeding difficulties, seizures, pyramidal dysfunction, developmental, cognitive and behavioural abnormalities have been reported with various features exhibited at various stages of life e.g. neonates, infantile/childhood and adults.
ID/mental retardation ranging from mild, moderate to severe have been reported in several cases usually manifesting in childhood or adults.
Intellectual disability syndromic and non-syndromic v0.5821 SHROOM4 Sangavi Sivagnanasundram reviewed gene: SHROOM4: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006141; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5821 SETBP1 Sangavi Sivagnanasundram reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28346496, 21037274; Phenotypes: Schinzel-Giedion syndrome MONDO:0010010, complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5821 SLC25A15 Rajkumar Krishnaswamy reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18978333, 25874378; Phenotypes: Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970, hyperammonemia, lethargy, somnolence, refusal to feed, vomiting, tachypnea with respiratory alkalosis, seizures, protein intolerance, developmental delay, spasticity, intellectual disability / mental retardation, dysarthria, learning disabilities, spasticity, liver dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5821 SETBP1 Sangavi Sivagnanasundram Deleted their review
Intellectual disability syndromic and non-syndromic v0.5821 SETBP1 Sangavi Sivagnanasundram commented on gene: SETBP1: Classified DEFINITIVE for both conditions by ClinGen ID and Autism GCEP.

SGS classified on 16/02/2021 - https://search.clinicalgenome.org/CCID:006117
Complex neurodevelopmental disorders on 20/10/2020 - https://search.clinicalgenome.org/CCID:006116

LoF is associated with complex neurodevelopmental disorder. There have been 20 LoF variants reported in individuals so far (nonsense, frameshift, large deletions)

GoF is proposed to be the mechanism of disease for Schinzel-Giedion syndrome (SGS) due to an increase in SETBP1 protein production. Missense variants (especially affecting p.868-871) are known to be disease causing.
Intellectual disability syndromic and non-syndromic v0.5821 SETBP1 Sangavi Sivagnanasundram commented on gene: SETBP1: Classified DEFINITIVE for both conditions by ClinGen ID and Autism GCEP.

SGS classified on 16/02/2021 - https://search.clinicalgenome.org/CCID:006117
Complex neurodevelopmental disorders on 20/10/2020 - https://search.clinicalgenome.org/CCID:006116

LoF is associated with complex neurodevelopmental disorder. There have been 20 LoF variants reported in individuals so far (nonsense, frameshift, large deletions)

GoF is proposed to be the mechanism of disease for Schinzel-Giedion syndrome (SGS) due to an increase in SETBP1 protein production. Missense variants (especially affecting p.868-871) are known to be disease causing.
Intellectual disability syndromic and non-syndromic v0.5821 SETBP1 Sangavi Sivagnanasundram reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28346496, 21037274; Phenotypes: Schinzel-Giedion syndrome MONDO:0010010, complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitamin metabolism disorders v1.1 Bryony Thompson Panel name changed from Inherited vitamin B12 or cobalamin deficiency to Vitamin metabolism disorders
HPO terms changed from Abnormality of vitamin B12 metabolism, HP:0004341 to Abnormality of vitamin metabolism, HP:0100508
List of related panels changed from Abnormality of vitamin B12 metabolism; HP:0004341 to Abnormality of vitamin metabolism; HP:0100508
Aminoacidopathy v1.6 Bryony Thompson Panel name changed from Disorders of branched chain amino acid metabolism to Aminoacidopathy
Metal Metabolism Disorders v0.44 Bryony Thompson Panel name changed from Iron metabolism disorders to Metal Metabolism Disorders
HPO terms changed from Abnormality of iron homeostasis, HP:0011031 to Abnormality of iron homeostasis, HP:0011031;Abnormal blood transition element cation concentration, HP:0011030
List of related panels changed from Abnormality of iron homeostasis; HP:0011031 to Abnormality of iron homeostasis; HP:0011031;Abnormal blood transition element cation concentration; HP:0011030
Haem degradation and bilirubin metabolism defects v0.16 Bryony Thompson Panel name changed from Porphyria to Haem degradation and bilirubin metabolism defects
HPO terms changed from Porphyria, MONDO:0037939;Abnormal circulating porphyrin concentration, HP:0010472 to Porphyria, MONDO:0037939;Abnormal circulating porphyrin concentration, HP:0010472;Hyperbilirubinemia, HP:0002904
List of related panels changed from Porphyria; MONDO:0037939;Abnormal circulating porphyrin concentration; HP:0010472 to Porphyria; MONDO:0037939;Abnormal circulating porphyrin concentration; HP:0010472;Hyperbilirubinemia; HP:0002904
Intellectual disability syndromic and non-syndromic v0.5821 PTCHD1 Sangavi Sivagnanasundram reviewed gene: PTCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005921; Phenotypes: non-syndromic X-linked intellectual disability MONDO:0019181; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5821 PORCN Sangavi Sivagnanasundram reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301712; Phenotypes: focal dermal hypoplasia MONDO:0010592; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5821 PLP1 Sangavi Sivagnanasundram reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: https://search.clinicalgenome.org/CCID:005834; Phenotypes: Pelizeaus-Merzbacher spectrum disorder MONDO:0010714; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5821 OFD1 Sangavi Sivagnanasundram reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24884629; Phenotypes: ciliopathy MONDO:0005308; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5821 OCRL Sangavi Sivagnanasundram reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005696; Phenotypes: oculocerebrorenal syndrome MONDO:0010645; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.1789 RBBP8 James The reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:30561437, 34270086, 32379725; Phenotypes: Jawad syndrome, Pancreatic carcinoma, somatic, Seckel syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5821 NSD1 Sangavi Sivagnanasundram reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005680; Phenotypes: Sotos syndrome MONDO:0019349; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5821 NDP Sangavi Sivagnanasundram edited their review of gene: NDP: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.5821 NDP Sangavi Sivagnanasundram reviewed gene: NDP: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005574; Phenotypes: Norrie disease MONDO:0010691; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5821 MID1 Sangavi Sivagnanasundram reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005386; Phenotypes: X-linked Opitz G/BBB syndrome MONDO:0010222; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5821 MED23 Sangavi Sivagnanasundram reviewed gene: MED23: Rating: GREEN; Mode of pathogenicity: None; Publications: 21868677, 25845469, 27311965, 27457812, 30847200, 31164858; Phenotypes: syndromic intellectual disability MONDO:0000508; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5821 MED13L Sangavi Sivagnanasundram reviewed gene: MED13L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28645799, 29511999; Phenotypes: syndromic intellectual disability MONDO:0000508; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5821 MED12 Sangavi Sivagnanasundram reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005361; Phenotypes: MED12-related intellectual disability syndrome MONDO:0100000; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5821 MBTPS2 Sangavi Sivagnanasundram reviewed gene: MBTPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005345; Phenotypes: IFAP syndrome 1, with or without BRESHECK syndrome MONDO:0100213; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5821 MAN1B1 Sangavi Sivagnanasundram reviewed gene: MAN1B1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: MAN1B1-congenital disorder of glycosylation MONDO:0018349; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.5821 MAGT1 Sangavi Sivagnanasundram reviewed gene: MAGT1: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005319; Phenotypes: X-linked intellectual disability MONDO:0100284; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5821 LAMC3 Sangavi Sivagnanasundram reviewed gene: LAMC3: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005265; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2752 SYN1 Zornitza Stark Publications for gene: SYN1 were set to 14985377; 21441247; 28973667; 21441247; 34243774
Genetic Epilepsy v0.2752 SYN1 Zornitza Stark Publications for gene: SYN1 were set to
Genetic Epilepsy v0.2751 SYN1 Zornitza Stark Mode of inheritance for gene: SYN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5821 L1CAM Sangavi Sivagnanasundram reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005260; Phenotypes: L1 syndrome MONDO:0017140; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.2750 SURF1 Zornitza Stark Marked gene: SURF1 as ready
Genetic Epilepsy v0.2750 SURF1 Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2750 SURF1 Zornitza Stark Phenotypes for gene: SURF1 were changed from to Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110
Genetic Epilepsy v0.2749 SURF1 Zornitza Stark Publications for gene: SURF1 were set to
Genetic Epilepsy v0.2748 SURF1 Zornitza Stark Mode of inheritance for gene: SURF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2747 SURF1 Zornitza Stark changed review comment from: Well established gene-disease association with mitochondrial disease.; to: Well established gene-disease association with mitochondrial disease. Seizures are part of the phenotype.
Genetic Epilepsy v0.2747 SUOX Zornitza Stark Marked gene: SUOX as ready
Genetic Epilepsy v0.2747 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2747 SUOX Zornitza Stark Phenotypes for gene: SUOX were changed from to Sulfite oxidase deficiency, MIM# 272300
Genetic Epilepsy v0.2746 SUOX Zornitza Stark Publications for gene: SUOX were set to
Intellectual disability syndromic and non-syndromic v0.5821 KIRREL3 Sangavi Sivagnanasundram reviewed gene: KIRREL3: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005235; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2745 SUOX Zornitza Stark Mode of inheritance for gene: SUOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2744 SUOX Zornitza Stark changed review comment from: More than 5 unrelated families reported.; to: More than 5 unrelated families reported. Seizures are part of the phenotype.
Genetic Epilepsy v0.2744 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Genetic Epilepsy v0.2744 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2744 SUCLA2 Zornitza Stark Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Genetic Epilepsy v0.2743 SUCLA2 Zornitza Stark Publications for gene: SUCLA2 were set to
Genetic Epilepsy v0.2742 SUCLA2 Zornitza Stark Mode of inheritance for gene: SUCLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2741 STRADA Zornitza Stark Marked gene: STRADA as ready
Genetic Epilepsy v0.2741 STRADA Zornitza Stark Gene: strada has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2741 STRADA Zornitza Stark Phenotypes for gene: STRADA were changed from to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611
Genetic Epilepsy v0.2740 STRADA Zornitza Stark Publications for gene: STRADA were set to
Genetic Epilepsy v0.2739 STRADA Zornitza Stark Mode of inheritance for gene: STRADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2738 STAG1 Zornitza Stark Marked gene: STAG1 as ready
Genetic Epilepsy v0.2738 STAG1 Zornitza Stark Gene: stag1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2738 STAG1 Zornitza Stark Phenotypes for gene: STAG1 were changed from to Intellectual disability, autosomal dominant 47, MIM# 617635
Genetic Epilepsy v0.2737 STAG1 Zornitza Stark Publications for gene: STAG1 were set to
Genetic Epilepsy v0.2736 STAG1 Zornitza Stark Mode of inheritance for gene: STAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2735 STAG1 Zornitza Stark changed review comment from: Twelve unrelated individuals reported in the original paper.; to: Twelve unrelated individuals reported in the original paper. Seizures are part of the phenotype.
Genetic Epilepsy v0.2735 STAG1 Zornitza Stark edited their review of gene: STAG1: Changed phenotypes: Intellectual disability, autosomal dominant 47, MIM# 617635
Genetic Epilepsy v0.2735 SPR Zornitza Stark Marked gene: SPR as ready
Genetic Epilepsy v0.2735 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2735 SPR Zornitza Stark Phenotypes for gene: SPR were changed from to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716
Genetic Epilepsy v0.2734 SPR Zornitza Stark Publications for gene: SPR were set to
Genetic Epilepsy v0.2733 SPR Zornitza Stark Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2732 SPR Zornitza Stark changed review comment from: Complex movement disorder, dystonia predominant, but ataxia described in some individuals. Most individuals have had bi-allelic variants identified, uncertain whether there is an association with mono-allelic variants.

Included due to phenotypic overlap.; to: Complex movement disorder, dystonia predominant, but ataxia described in some individuals. Most individuals have had bi-allelic variants identified, uncertain whether there is an association with mono-allelic variants.

Seizures reported.
Genetic Epilepsy v0.2732 SPR Zornitza Stark changed review comment from: Complex movement disorder, dystonia predominant, but ataxia described in some individuals. Most individuals have had bi-allelic variants identified, uncertain whether there is an association with mono-allelic variants.; to: Complex movement disorder, dystonia predominant, but ataxia described in some individuals. Most individuals have had bi-allelic variants identified, uncertain whether there is an association with mono-allelic variants.

Included due to phenotypic overlap.
Genetic Epilepsy v0.2732 SNAP25 Zornitza Stark Marked gene: SNAP25 as ready
Genetic Epilepsy v0.2732 SNAP25 Zornitza Stark Gene: snap25 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2732 SNAP25 Zornitza Stark Phenotypes for gene: SNAP25 were changed from to Neurodevelopmental disorder, MONDO:0700092, SNAP25-related
Genetic Epilepsy v0.2731 SNAP25 Zornitza Stark Publications for gene: SNAP25 were set to
Genetic Epilepsy v0.2730 SNAP25 Zornitza Stark Mode of inheritance for gene: SNAP25 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2729 SNAP25 Zornitza Stark changed review comment from: More than 5 unrelated individuals reported with a neurodevelopmental disorder.

Limited evidence for this being congenital myasthenic syndrome,; to: More than 5 unrelated individuals reported with a neurodevelopmental disorder, including seizures.

Limited evidence for this being congenital myasthenic syndrome,
Genetic Epilepsy v0.2729 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Genetic Epilepsy v0.2729 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2729 SLC6A8 Zornitza Stark Phenotypes for gene: SLC6A8 were changed from Cerebral creatine deficiency syndrome 1, MIM# 300352 to Cerebral creatine deficiency syndrome 1, MIM# 300352
Genetic Epilepsy v0.2728 SLC6A8 Zornitza Stark Phenotypes for gene: SLC6A8 were changed from to Cerebral creatine deficiency syndrome 1, MIM# 300352
Genetic Epilepsy v0.2727 SLC6A8 Zornitza Stark Publications for gene: SLC6A8 were set to
Genetic Epilepsy v0.2726 SLC6A8 Zornitza Stark Mode of inheritance for gene: SLC6A8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.2725 SLC6A8 Zornitza Stark changed review comment from: Well established gene-disease association.
Sources: Expert list; to: Well established gene-disease association. Seizures are part of the phenotype.
Sources: Expert list
Genetic Epilepsy v0.2725 SLC6A19 Zornitza Stark Marked gene: SLC6A19 as ready
Genetic Epilepsy v0.2725 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2725 SLC6A19 Zornitza Stark Phenotypes for gene: SLC6A19 were changed from to Hartnup disorder, MIM# 234500
Genetic Epilepsy v0.2724 SLC6A19 Zornitza Stark Mode of inheritance for gene: SLC6A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2723 SLC6A19 Zornitza Stark changed review comment from: Bi-allelic variants associated with Hartnup disorder, which is characterised by impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra, cerebellar ataxia, and psychosis.

Hyperglycinuria/iminoglycinuria: The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria is a benign inborn error of amino acid transport, and is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG)
Sources: Expert list; to: Bi-allelic variants associated with Hartnup disorder, which is characterised by impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra, cerebellar ataxia, and psychosis. Seizures are part of the phenotype.

Hyperglycinuria/iminoglycinuria: The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria is a benign inborn error of amino acid transport, and is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG)
Sources: Expert list
Genetic Epilepsy v0.2723 SLC6A19 Zornitza Stark edited their review of gene: SLC6A19: Changed phenotypes: Hartnup disorder, MIM# 234500; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2723 SLC35A2 Zornitza Stark Marked gene: SLC35A2 as ready
Genetic Epilepsy v0.2723 SLC35A2 Zornitza Stark Gene: slc35a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2723 SLC35A2 Zornitza Stark Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854; Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) to Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854; Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Genetic Epilepsy v0.2722 SLC35A2 Zornitza Stark Phenotypes for gene: SLC35A2 were changed from to Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854; Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Genetic Epilepsy v0.2721 SLC35A2 Zornitza Stark Publications for gene: SLC35A2 were set to
Genetic Epilepsy v0.2720 SLC35A2 Zornitza Stark Mode of inheritance for gene: SLC35A2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2719 SLC35A2 Zornitza Stark Mode of inheritance for gene: SLC35A2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v1.245 BCORL1 Zornitza Stark Marked gene: BCORL1 as ready
Fetal anomalies v1.245 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.245 BCORL1 Zornitza Stark Classified gene: BCORL1 as Amber List (moderate evidence)
Fetal anomalies v1.245 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.244 BCORL1 Zornitza Stark gene: BCORL1 was added
gene: BCORL1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BCORL1 were set to Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related
Review for gene: BCORL1 was set to AMBER
Added comment: Emerging evidence of disease association.
Sources: Expert Review
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.117 BCORL1 Zornitza Stark Marked gene: BCORL1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.117 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.117 BCORL1 Zornitza Stark Classified gene: BCORL1 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.117 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.116 BCORL1 Zornitza Stark gene: BCORL1 was added
gene: BCORL1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Expert Review
Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BCORL1 were set to Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related
Review for gene: BCORL1 was set to AMBER
Added comment: Emerging evidence of disease association.
Sources: Expert Review
Genetic Epilepsy v0.2718 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Genetic Epilepsy v0.2718 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2718 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from to GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126
Genetic Epilepsy v0.2717 SLC2A1 Zornitza Stark Publications for gene: SLC2A1 were set to
Genetic Epilepsy v0.2716 SLC2A1 Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2715 SLC25A1 Zornitza Stark Marked gene: SLC25A1 as ready
Genetic Epilepsy v0.2715 SLC25A1 Zornitza Stark Gene: slc25a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2715 SLC25A1 Zornitza Stark Phenotypes for gene: SLC25A1 were changed from to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072
Genetic Epilepsy v0.2714 SLC25A1 Zornitza Stark Publications for gene: SLC25A1 were set to
Genetic Epilepsy v0.2713 SLC25A1 Zornitza Stark Mode of inheritance for gene: SLC25A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2712 SLC25A1 Zornitza Stark reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1789 SHROOM4 Zornitza Stark Phenotypes for gene: SHROOM4 were changed from Stocco dos Santos X-linked mental retardation syndrome, 300434; Intellectual disability to Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719; epilepsy, idiopathic generalised, SHROOM4-related, MONDO:0005579
Genetic Epilepsy v0.2712 SHROOM4 Zornitza Stark Marked gene: SHROOM4 as ready
Genetic Epilepsy v0.2712 SHROOM4 Zornitza Stark Gene: shroom4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2712 SETBP1 Zornitza Stark Marked gene: SETBP1 as ready
Genetic Epilepsy v0.2712 SETBP1 Zornitza Stark Gene: setbp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2712 SETBP1 Zornitza Stark Phenotypes for gene: SETBP1 were changed from to Schinzel-Giedion midface retraction syndrome, MIM# 269150; Intellectual disability, autosomal dominant 29, MIM# 616078
Genetic Epilepsy v0.2711 SETBP1 Zornitza Stark Publications for gene: SETBP1 were set to
Genetic Epilepsy v0.2710 SETBP1 Zornitza Stark Mode of inheritance for gene: SETBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2709 SEPSECS Zornitza Stark Marked gene: SEPSECS as ready
Genetic Epilepsy v0.2709 SEPSECS Zornitza Stark Gene: sepsecs has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2709 SEPSECS Zornitza Stark Phenotypes for gene: SEPSECS were changed from to Pontocerebellar hypoplasia type 2D, MIM# 613811
Genetic Epilepsy v0.2708 SEPSECS Zornitza Stark Publications for gene: SEPSECS were set to
Genetic Epilepsy v0.2707 SEPSECS Zornitza Stark Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2706 SEPSECS Zornitza Stark changed review comment from: PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures. At least 5 unrelated families reported.; to: PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound ID, spasticity, and variable seizures. At least 5 unrelated families reported.
Genetic Epilepsy v0.2706 SCO2 Zornitza Stark Marked gene: SCO2 as ready
Genetic Epilepsy v0.2706 SCO2 Zornitza Stark Gene: sco2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2706 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from to Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377
Genetic Epilepsy v0.2705 SCO2 Zornitza Stark Mode of inheritance for gene: SCO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2704 SCO2 Zornitza Stark reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545952, 10749987, 18924171; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2704 SCN2A Zornitza Stark Marked gene: SCN2A as ready
Genetic Epilepsy v0.2704 SCN2A Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2704 SCN2A Zornitza Stark Phenotypes for gene: SCN2A were changed from to Seizures, benign familial infantile, 3, MIM# 607745; Developmental and epileptic encephalopathy 11, MIM# 613721
Genetic Epilepsy v0.2703 SCN2A Zornitza Stark Publications for gene: SCN2A were set to
Genetic Epilepsy v0.2702 SCN2A Zornitza Stark Mode of inheritance for gene: SCN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2701 SCN2A Zornitza Stark changed review comment from: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia. Rather than being discrete disorders, these probably represent a continuum of manifestations of a single brain channelopathy disorder.

Multiple families reported.; to: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including DEE. Rather than being discrete disorders, these probably represent a continuum of manifestations of a single brain channelopathy disorder.

Multiple families reported.
Cerebellar and Pontocerebellar Hypoplasia v1.64 RARS2 sailajah vishwanathan reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PubMed: 17847012, PubMed: 25809939, PubMed: 20635367, PubMed: 7607232; Phenotypes: pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Speech apraxia v0.0 Zornitza Stark Added Panel Speech apraxia
Genetic Epilepsy v0.2701 SAMHD1 Zornitza Stark Marked gene: SAMHD1 as ready
Genetic Epilepsy v0.2701 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2701 SAMHD1 Zornitza Stark Phenotypes for gene: SAMHD1 were changed from to Aicardi-Goutieres syndrome 5, MIM# 612952
Genetic Epilepsy v0.2700 SAMHD1 Zornitza Stark Publications for gene: SAMHD1 were set to
Genetic Epilepsy v0.2699 SAMHD1 Zornitza Stark Mode of inheritance for gene: SAMHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2698 RTTN Zornitza Stark Marked gene: RTTN as ready
Genetic Epilepsy v0.2698 RTTN Zornitza Stark Gene: rttn has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2698 RTTN Zornitza Stark Phenotypes for gene: RTTN were changed from to Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833
Genetic Epilepsy v0.2697 RTTN Zornitza Stark Publications for gene: RTTN were set to
Genetic Epilepsy v0.2696 RTTN Zornitza Stark Mode of inheritance for gene: RTTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2695 RTTN Zornitza Stark reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2695 RTN4IP1 Zornitza Stark Marked gene: RTN4IP1 as ready
Genetic Epilepsy v0.2695 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2695 RTN4IP1 Zornitza Stark Phenotypes for gene: RTN4IP1 were changed from to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732
Genetic Epilepsy v0.2694 RTN4IP1 Zornitza Stark Publications for gene: RTN4IP1 were set to
Genetic Epilepsy v0.2693 RTN4IP1 Zornitza Stark Mode of inheritance for gene: RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2692 RRM2B Zornitza Stark Marked gene: RRM2B as ready
Genetic Epilepsy v0.2692 RRM2B Zornitza Stark Gene: rrm2b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2692 RRM2B Zornitza Stark Phenotypes for gene: RRM2B were changed from to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
Genetic Epilepsy v0.2691 RRM2B Zornitza Stark Publications for gene: RRM2B were set to
Genetic Epilepsy v0.2690 RRM2B Zornitza Stark Mode of inheritance for gene: RRM2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2689 RRM2B Zornitza Stark Deleted their review
Genetic Epilepsy v0.2689 RNU4ATAC Zornitza Stark Marked gene: RNU4ATAC as ready
Genetic Epilepsy v0.2689 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2689 RNU4ATAC Zornitza Stark Phenotypes for gene: RNU4ATAC were changed from to Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960
Genetic Epilepsy v0.2688 RNU4ATAC Zornitza Stark Publications for gene: RNU4ATAC were set to
Genetic Epilepsy v0.2687 RNU4ATAC Zornitza Stark Mode of inheritance for gene: RNU4ATAC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2686 RNU4ATAC Zornitza Stark edited their review of gene: RNU4ATAC: Changed phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I, MIM# 210710, Lowry-Wood syndrome, MIM# 226960
Genetic Epilepsy v0.2686 RNU4ATAC Zornitza Stark changed review comment from: Lowry-Wood syndrome (LWS) is characterized by multiple epiphyseal dysplasia and microcephaly. Patients exhibit intrauterine growth retardation and short stature, as well as developmental delay and intellectual disability. Retinal degeneration has been reported in some patients.

Four unrelated families reported.

Note features between the three RNU4ATAC-related conditions overlap and they may not represent distinct disorders.; to: Lowry-Wood syndrome (LWS) is characterized by multiple epiphyseal dysplasia and microcephaly. Patients exhibit intrauterine growth retardation and short stature, as well as developmental delay and intellectual disability. Retinal degeneration has been reported in some patients.

Four unrelated families reported.

Note features between the three RNU4ATAC-related conditions overlap and they may not represent distinct disorders.

Seizures reported with the Microcephalic osteodysplastic primordial dwarfism, type I, MIM# 210710 phenotype.
Genetic Epilepsy v0.2686 RNASET2 Zornitza Stark Marked gene: RNASET2 as ready
Genetic Epilepsy v0.2686 RNASET2 Zornitza Stark Gene: rnaset2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2686 RNASET2 Zornitza Stark Phenotypes for gene: RNASET2 were changed from to Leukoencephalopathy, cystic, without megalencephaly MIM#612951
Genetic Epilepsy v0.2685 RNASET2 Zornitza Stark Publications for gene: RNASET2 were set to
Genetic Epilepsy v0.2684 RNASET2 Zornitza Stark Mode of inheritance for gene: RNASET2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2683 RNASEH2C Zornitza Stark Marked gene: RNASEH2C as ready
Genetic Epilepsy v0.2683 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2683 RNASEH2C Zornitza Stark Phenotypes for gene: RNASEH2C were changed from to Aicardi-Goutieres syndrome 3 (MIM# 610329)
Genetic Epilepsy v0.2682 RNASEH2C Zornitza Stark Publications for gene: RNASEH2C were set to
Genetic Epilepsy v0.2681 RNASEH2C Zornitza Stark Mode of inheritance for gene: RNASEH2C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2680 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Genetic Epilepsy v0.2680 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2680 RNASEH2B Zornitza Stark Phenotypes for gene: RNASEH2B were changed from to Aicardi-Goutieres syndrome 2, MIM# 610181
Genetic Epilepsy v0.2679 RNASEH2B Zornitza Stark Publications for gene: RNASEH2B were set to
Genetic Epilepsy v0.2678 RNASEH2B Zornitza Stark Mode of inheritance for gene: RNASEH2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2677 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Genetic Epilepsy v0.2677 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2677 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Genetic Epilepsy v0.2677 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2677 RNASEH2A Zornitza Stark Phenotypes for gene: RNASEH2A were changed from to Aicardi-Goutieres syndrome 4 MIM#610333
Genetic Epilepsy v0.2676 RNASEH2A Zornitza Stark Publications for gene: RNASEH2A were set to
Genetic Epilepsy v0.2675 RNASEH2A Zornitza Stark Mode of inheritance for gene: RNASEH2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2674 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Genetic Epilepsy v0.2674 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2674 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670
Genetic Epilepsy v0.2673 POMT1 Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2672 POMT1 Zornitza Stark edited their review of gene: POMT1: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
Genetic Epilepsy v0.2672 POMT1 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Seizures are part of the more severe end of the phenotype.
Genetic Epilepsy v0.2672 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Genetic Epilepsy v0.2672 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2672 POMGNT1 Zornitza Stark Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830
Genetic Epilepsy v0.2671 POMGNT1 Zornitza Stark Publications for gene: POMGNT1 were set to
Genetic Epilepsy v0.2670 POMGNT1 Zornitza Stark Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2669 POMGNT1 Zornitza Stark changed review comment from: PMID 26908613 and 27391550: 4 unrelated families with isolated RP in adults.

Well established association with dystroglycanopathy.; to: Well established association with dystroglycanopathy. Seizures are a feature of the more severe end of the spectrum.
Genetic Epilepsy v0.2669 POLG Zornitza Stark Marked gene: POLG as ready
Genetic Epilepsy v0.2669 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2669 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662
Genetic Epilepsy v0.2668 POLG Zornitza Stark Publications for gene: POLG were set to
Genetic Epilepsy v0.2667 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2666 POLG Zornitza Stark edited their review of gene: POLG: Added comment: Seizures are a feature of the more severe, recessive disorders associated with this gene.; Changed phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Macrocystic Disease v0.69 ALG9 Ain Roesley Phenotypes for gene: ALG9 were changed from Congenital disorder of glycosylation, type Il, MIM# 608776; Gillessen-Kaesbach-Nishimura syndrome, MIM#263210; Polycystic kidney disease to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM#263210; Polycystic kidney disease; ALG9-associated autosomal dominant polycystic kidney disease MONDO:0700000
Mendeliome v1.1788 ALG9 Ain Roesley Phenotypes for gene: ALG9 were changed from Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Polycystic kidney disease to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Polycystic kidney disease; ALG9-associated autosomal dominant polycystic kidney disease MONDO:0700000
Intellectual disability syndromic and non-syndromic v0.5821 KATNAL2 Sangavi Sivagnanasundram reviewed gene: KATNAL2: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005176; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5821 KAT6B Sangavi Sivagnanasundram reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005174; Phenotypes: KAT6B-related multiple congenital anomalies syndrome MONDO:0036042; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5821 KAT6A Sangavi Sivagnanasundram reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005173; Phenotypes: syndromic intellectual disability MONDO:0000508; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5821 IGBP1 Sangavi Sivagnanasundram reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005117; Phenotypes: corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:0010333; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5821 IDS Sangavi Sivagnanasundram reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005112; Phenotypes: mucopolysaccharidosis type 2 MONDO:0010674; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5821 HPRT1 Sangavi Sivagnanasundram reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005082; Phenotypes: Lesch-Nyhan syndrome MONDO:0010298; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5821 HOXA1 Sangavi Sivagnanasundram reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005077; Phenotypes: syndromic intellectual disability MONDO:0000508; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperinsulinism v1.16 EP300 Chirag Patel Classified gene: EP300 as Green List (high evidence)
Hyperinsulinism v1.16 EP300 Chirag Patel Gene: ep300 has been classified as Green List (High Evidence).
Hyperinsulinism v1.15 CREBBP Chirag Patel Classified gene: CREBBP as Green List (high evidence)
Hyperinsulinism v1.15 CREBBP Chirag Patel Gene: crebbp has been classified as Green List (High Evidence).
Hyperinsulinism v1.14 CREBBP Chirag Patel gene: CREBBP was added
gene: CREBBP was added to Hyperinsulinism. Sources: Literature
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CREBBP were set to PMID: 31137009, 33442921, 2240025, 31414570, 33043588
Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 1, OMIM #180849
Review for gene: CREBBP was set to GREEN
gene: CREBBP was marked as current diagnostic
Added comment: Established gene-disease association.
Hyperinsulinaemic hypoglycaemia reported in less than 5%.
Sources: Literature
Hyperinsulinism v1.14 EP300 Chirag Patel gene: EP300 was added
gene: EP300 was added to Hyperinsulinism. Sources: Literature
Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EP300 were set to PMID: 31137009, 33442921, 2240025, 31414570, 33043588
Phenotypes for gene: EP300 were set to Rubinstein-Taybi syndrome 2, OMIM #613684
Review for gene: EP300 was set to GREEN
gene: EP300 was marked as current diagnostic
Added comment: Established gene-disease association.
Hyperinsulinaemic hypoglycaemia reported in less than 5%.
Sources: Literature
Hyperinsulinism v1.13 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease
Hyperinsulinism v1.12 CACNA1D Chirag Patel Classified gene: CACNA1D as Amber List (moderate evidence)
Hyperinsulinism v1.12 CACNA1D Chirag Patel Gene: cacna1d has been classified as Amber List (Moderate Evidence).
Hyperinsulinism v1.11 CACNA1D Chirag Patel reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32336187; Phenotypes: congenital hyperinsulinism, primary hyperaldosteronism, and neurologic abnormalities; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.5821 HNRNPK Sangavi Sivagnanasundram reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005073; Phenotypes: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome (Au-Kline syndrome) MONDO:0018681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5821 HIST1H1E Sangavi Sivagnanasundram commented on gene: HIST1H1E
Hyperinsulinism v1.11 UCP2 Chirag Patel reviewed gene: UCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 27967291, 23275527, 19065272, 28681398; Phenotypes: congenital hyperinsulinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5821 GPC3 Sangavi Sivagnanasundram reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004990; Phenotypes: Simpson-Golabi-Behmel syndrome MONDO:0010731; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5821 GDI1 Sangavi Sivagnanasundram reviewed gene: GDI1: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004941; Phenotypes: non-syndromic X-linked intellectual disability MONDO:0019181; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5821 FTSJ1 Sangavi Sivagnanasundram reviewed gene: FTSJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004892; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hyperinsulinism v1.11 PGM1 Chirag Patel Classified gene: PGM1 as Green List (high evidence)
Hyperinsulinism v1.11 PGM1 Chirag Patel Gene: pgm1 has been classified as Green List (High Evidence).
Hyperinsulinism v1.10 PGM1 Chirag Patel gene: PGM1 was added
gene: PGM1 was added to Hyperinsulinism. Sources: Literature
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM1 were set to PMID: 24499211, 27206562
Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, OMIM# 614921
Review for gene: PGM1 was set to GREEN
gene: PGM1 was marked as current diagnostic
Added comment: Well established gene-disease association. Individuals can present with hypoglycaemia (+/- hyperinsulinism) and may not have all the syndromic features at presentation.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5821 FMR1 Sangavi Sivagnanasundram reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004870; Phenotypes: fragile X syndrome MONDO:0010383; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5821 SPR Zornitza Stark Marked gene: SPR as ready
Intellectual disability syndromic and non-syndromic v0.5821 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5821 SPR Zornitza Stark Phenotypes for gene: SPR were changed from to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716
Intellectual disability syndromic and non-syndromic v0.5820 SPR Zornitza Stark Publications for gene: SPR were set to
Intellectual disability syndromic and non-syndromic v0.5819 SPR Zornitza Stark Mode of inheritance for gene: SPR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5818 SPR Zornitza Stark reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5818 MAST3 Zornitza Stark Publications for gene: MAST3 were set to 34185323
Mendeliome v1.1787 AGTR2 Zornitza Stark Marked gene: AGTR2 as ready
Mendeliome v1.1787 AGTR2 Zornitza Stark Gene: agtr2 has been classified as Red List (Low Evidence).
Mendeliome v1.1787 AGTR2 Zornitza Stark changed review comment from: Variants in AGTR2 have been reported in individuals presenting various neurodevelopmental phenotypes, including intellectual disability, autistic features, epileptic seizures, speech delay, restlessness, and hyperactivity, as early as 2002. Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found no difference in molecular mechanism, inheritance pattern, or phenotypic variability. Therefore, for the purposes of this curation, all of these features have been lumped into one disease entity, X-linked complex neurodevelopmental disorder. Although eight unique variants, including missense and truncating, have been reported in affected humans, the majority (six) have been ruled out from disease-causality based on high frequency in control populations (Piton et al., PMID 23871722), occurrence in unaffected males (Erdmann et al., PMID 14722754), non-segregation within a family (Bienvenu et al., PMID 12746399), and lack of enrichment in patients in a case-control study (Huang et al., PMID 16283672). Given that the two remaining variants are missense with no supporting functional evidence, and AGTR2 was the only gene sequenced in each case, the ClinGen Intellectual Disability and Autism Working Group recommended awarding 0 points for these variants. There are two AGTR2 mouse models which collectively show altered neuronal spine morphology, spatial memory impairment, delayed learning, and reduced exploratory behavior (PMIDs 18335189 and 7477267).
Sources: Expert Review; to: DISPUTED by ClinGen:

Variants in AGTR2 have been reported in individuals presenting various neurodevelopmental phenotypes, including intellectual disability, autistic features, epileptic seizures, speech delay, restlessness, and hyperactivity, as early as 2002. Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found no difference in molecular mechanism, inheritance pattern, or phenotypic variability. Therefore, for the purposes of this curation, all of these features have been lumped into one disease entity, X-linked complex neurodevelopmental disorder. Although eight unique variants, including missense and truncating, have been reported in affected humans, the majority (six) have been ruled out from disease-causality based on high frequency in control populations (Piton et al., PMID 23871722), occurrence in unaffected males (Erdmann et al., PMID 14722754), non-segregation within a family (Bienvenu et al., PMID 12746399), and lack of enrichment in patients in a case-control study (Huang et al., PMID 16283672). Given that the two remaining variants are missense with no supporting functional evidence, and AGTR2 was the only gene sequenced in each case, the ClinGen Intellectual Disability and Autism Working Group recommended awarding 0 points for these variants. There are two AGTR2 mouse models which collectively show altered neuronal spine morphology, spatial memory impairment, delayed learning, and reduced exploratory behavior (PMIDs 18335189 and 7477267).
Sources: Expert Review
Mendeliome v1.1787 AGTR2 Zornitza Stark gene: AGTR2 was added
gene: AGTR2 was added to Mendeliome. Sources: Expert Review
disputed tags were added to gene: AGTR2.
Mode of inheritance for gene: AGTR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AGTR2 were set to X-linked complex neurodevelopmental disorder MONDO:0100148
Review for gene: AGTR2 was set to RED
Added comment: Variants in AGTR2 have been reported in individuals presenting various neurodevelopmental phenotypes, including intellectual disability, autistic features, epileptic seizures, speech delay, restlessness, and hyperactivity, as early as 2002. Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found no difference in molecular mechanism, inheritance pattern, or phenotypic variability. Therefore, for the purposes of this curation, all of these features have been lumped into one disease entity, X-linked complex neurodevelopmental disorder. Although eight unique variants, including missense and truncating, have been reported in affected humans, the majority (six) have been ruled out from disease-causality based on high frequency in control populations (Piton et al., PMID 23871722), occurrence in unaffected males (Erdmann et al., PMID 14722754), non-segregation within a family (Bienvenu et al., PMID 12746399), and lack of enrichment in patients in a case-control study (Huang et al., PMID 16283672). Given that the two remaining variants are missense with no supporting functional evidence, and AGTR2 was the only gene sequenced in each case, the ClinGen Intellectual Disability and Autism Working Group recommended awarding 0 points for these variants. There are two AGTR2 mouse models which collectively show altered neuronal spine morphology, spatial memory impairment, delayed learning, and reduced exploratory behavior (PMIDs 18335189 and 7477267).
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.5817 AGTR2 Zornitza Stark Phenotypes for gene: AGTR2 were changed from to X-linked complex neurodevelopmental disorder MONDO:0100148
Intellectual disability syndromic and non-syndromic v0.5816 AGTR2 Zornitza Stark Mode of inheritance for gene: AGTR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5815 AGTR2 Zornitza Stark Tag disputed tag was added to gene: AGTR2.
Monogenic Diabetes v0.121 LIPC Zornitza Stark Marked gene: LIPC as ready
Monogenic Diabetes v0.121 LIPC Zornitza Stark Gene: lipc has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.121 LIPC Zornitza Stark Phenotypes for gene: LIPC were changed from {Diabetes mellitus, noninsulin-dependent}, 125853; [High density lipoprotein cholesterol level QTL 12], 612797; Hepatic lipase deficiency, 614025 to {Diabetes mellitus, noninsulin-dependent}, MIM#125853
Monogenic Diabetes v0.120 LIPC Zornitza Stark Publications for gene: LIPC were set to
Monogenic Diabetes v0.119 COQ2 Zornitza Stark Marked gene: COQ2 as ready
Monogenic Diabetes v0.119 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.119 COQ2 Zornitza Stark Phenotypes for gene: COQ2 were changed from neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency to coenzyme Q10 deficiency, primary, 1 MONDO:0011829
Monogenic Diabetes v0.118 COQ2 Zornitza Stark Publications for gene: COQ2 were set to
Monogenic Diabetes v0.117 COQ2 Zornitza Stark Classified gene: COQ2 as Green List (high evidence)
Monogenic Diabetes v0.117 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.116 CIDEC Zornitza Stark Marked gene: CIDEC as ready
Monogenic Diabetes v0.116 CIDEC Zornitza Stark Gene: cidec has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.116 CIDEC Zornitza Stark Phenotypes for gene: CIDEC were changed from Lipodystrophy, familial partial, type 5 to CIDEC-related familial partial lipodystrophy MONDO:0014098
Monogenic Diabetes v0.115 CAV1 Zornitza Stark Marked gene: CAV1 as ready
Monogenic Diabetes v0.115 CAV1 Zornitza Stark Gene: cav1 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.115 CAV1 Zornitza Stark Mode of inheritance for gene: CAV1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v0.114 CAV1 Zornitza Stark changed review comment from: Single family reported.; to: Single family reported in 2008.
Monogenic Diabetes v0.114 CAV1 Zornitza Stark reviewed gene: CAV1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Monogenic Diabetes v0.114 ZFP57 Zornitza Stark Marked gene: ZFP57 as ready
Monogenic Diabetes v0.114 ZFP57 Zornitza Stark Gene: zfp57 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.114 ZFP57 Zornitza Stark Phenotypes for gene: ZFP57 were changed from Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes; Transient Neonatal Diabetes, Recessive to Diabetes mellitus, transient neonatal, 1, MIM#601410
Monogenic Diabetes v0.113 ZFP57 Zornitza Stark Publications for gene: ZFP57 were set to
Monogenic Diabetes v0.112 PTF1A Zornitza Stark Marked gene: PTF1A as ready
Monogenic Diabetes v0.112 PTF1A Zornitza Stark Gene: ptf1a has been classified as Green List (High Evidence).
Monogenic Diabetes v0.112 PTF1A Zornitza Stark Phenotypes for gene: PTF1A were changed from Permanent neonatal diabetes mellitus (PNDM); Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069 to Diabetes mellitus, permanent neonatal, with cerebellar agenesis, MIM#609069
Monogenic Diabetes v0.111 PTF1A Zornitza Stark Publications for gene: PTF1A were set to
Monogenic Diabetes v0.110 PDX1 Zornitza Stark Marked gene: PDX1 as ready
Monogenic Diabetes v0.110 PDX1 Zornitza Stark Gene: pdx1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.110 PDX1 Zornitza Stark Phenotypes for gene: PDX1 were changed from Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; Maturity-onset diabetes of the young (MODY); MODY type IV; Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392; MODY4; Pancreatic agenesis 1; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4 to maturity-onset diabetes of the young type 4 MONDO:0011667
Monogenic Diabetes v0.109 PDX1 Zornitza Stark Publications for gene: PDX1 were set to
Monogenic Diabetes v0.108 NEUROD1 Zornitza Stark Marked gene: NEUROD1 as ready
Monogenic Diabetes v0.108 NEUROD1 Zornitza Stark Gene: neurod1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.108 NEUROD1 Zornitza Stark Phenotypes for gene: NEUROD1 were changed from MODY6; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity Onset Diabetes of the Young; Maturity-onset diabetes of the young 6, 606394; Permanent neonatal diabetes and cerebellar agenesis to maturity-onset diabetes of the young type 6 MONDO:0011668
Mendeliome v1.1786 AVPR1A Zornitza Stark Tag disputed tag was added to gene: AVPR1A.
Mendeliome v1.1786 AVPR1A Zornitza Stark Marked gene: AVPR1A as ready
Mendeliome v1.1786 AVPR1A Zornitza Stark Gene: avpr1a has been classified as Red List (Low Evidence).
Mendeliome v1.1786 AVPR1A Zornitza Stark gene: AVPR1A was added
gene: AVPR1A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: AVPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AVPR1A were set to 24924430
Phenotypes for gene: AVPR1A were set to Autism spectrum disorder MONDO:0005258
Review for gene: AVPR1A was set to RED
Added comment: DISPUTED by ClinGen:

The Arginine Vasopressin Receptor 1A (AVPR1A) was considered a candidate gene in autism spectrum disorder (ASD) based on reports focused on linkage intervals and animal models. Additionally, experimental evidence showed that AVPR1A is possibly involved in social behaviors, including affiliation and attachment (PMID: 24924430). However, these association studies were underpowered—sequencing more individuals may have identified variants of functional significance. In two studies, transmission disequilibrium between AVPR1A microsatellites and autism were found but most were not statistically significant (PMID: 12082568, 16520824). In another study, investigators screened AVPR1A exons in 125 independent autistic probands (PMID: 15098001). However, the study did not demonstrate a disease-causing variant in the coding sequence, and the authors noted that differences in AVPR1A at the amino-acid level are unlikely to confer genetic vulnerability to autism. Experimental evidence is available, but, in the absence of human genetic evidence, such data were not utilized in the scoring. In summary, there is no valid genetic evidence to support an association between AVPR1A and autism spectrum disorder.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.5815 AVPR1A Zornitza Stark Tag disputed tag was added to gene: AVPR1A.
Intellectual disability syndromic and non-syndromic v0.5815 BAZ2B Zornitza Stark Classified gene: BAZ2B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5815 BAZ2B Zornitza Stark Gene: baz2b has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1785 BCORL1 Zornitza Stark Classified gene: BCORL1 as Amber List (moderate evidence)
Mendeliome v1.1785 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1784 BCORL1 Zornitza Stark edited their review of gene: BCORL1: Added comment: Classified as LIMITED by ClinGen.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.5814 BCORL1 Zornitza Stark Classified gene: BCORL1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5814 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5813 CASK Zornitza Stark Publications for gene: CASK were set to
Intellectual disability syndromic and non-syndromic v0.5812 CASK Zornitza Stark Marked gene: CASK as ready
Intellectual disability syndromic and non-syndromic v0.5812 CASK Zornitza Stark Added comment: Comment when marking as ready: Microcephaly with pontine and cerebellar hypoplasia (MICPCH), generally associated with pathogenic loss-of-function variants in CASK
X-linked intellectual disability (XLID) with or without nystagmus, generally associated with hypomorphic CASK pathogenic variants
Intellectual disability syndromic and non-syndromic v0.5812 CASK Zornitza Stark Gene: cask has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5812 CASK Zornitza Stark Phenotypes for gene: CASK were changed from to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Intellectual disability, with or without nystagmus MIM#300422
Intellectual disability syndromic and non-syndromic v0.5811 CASK Zornitza Stark Mode of inheritance for gene: CASK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v1.91 LCP1 Zornitza Stark Marked gene: LCP1 as ready
Bone Marrow Failure v1.91 LCP1 Zornitza Stark Gene: lcp1 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.91 LCP1 Zornitza Stark Classified gene: LCP1 as Amber List (moderate evidence)
Bone Marrow Failure v1.91 LCP1 Zornitza Stark Gene: lcp1 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.90 LCP1 Zornitza Stark gene: LCP1 was added
gene: LCP1 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: LCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LCP1 were set to 38710235
Phenotypes for gene: LCP1 were set to Bone marrow failure syndrome, MONDO:0000159, LCP1-related
Review for gene: LCP1 was set to AMBER
Added comment: 3 individuals from single kindred presenting with fevers, recurrent infections ,lymphopenia, neutropenia and thrombocytopenia. Murine model with similar phenotype. heterozygous LCP1c.740 -1G>A splice site variant hypothesized to cause dominant negative mode of inheritance
Sources: Literature
Mendeliome v1.1784 LCP1 Zornitza Stark Marked gene: LCP1 as ready
Mendeliome v1.1784 LCP1 Zornitza Stark Gene: lcp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1784 LCP1 Zornitza Stark Classified gene: LCP1 as Amber List (moderate evidence)
Mendeliome v1.1784 LCP1 Zornitza Stark Gene: lcp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1783 LCP1 Zornitza Stark gene: LCP1 was added
gene: LCP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LCP1 were set to 38710235
Phenotypes for gene: LCP1 were set to Bone marrow failure syndrome, MONDO:0000159, LCP1-related
Review for gene: LCP1 was set to AMBER
Added comment: 3 individuals from single kindred presenting with fevers, recurrent infections ,lymphopenia, neutropenia and thrombocytopenia. Murine model with similar phenotype. heterozygous LCP1c.740 -1G>A splice site variant hypothesized to cause dominant negative mode of inheritance
Sources: Literature
Combined Immunodeficiency v1.61 LCP1 Zornitza Stark Marked gene: LCP1 as ready
Combined Immunodeficiency v1.61 LCP1 Zornitza Stark Gene: lcp1 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.61 LCP1 Zornitza Stark Phenotypes for gene: LCP1 were changed from lymphopaenia and neutropaenia to Bone marrow failure syndrome, MONDO:0000159, LCP1-related
Combined Immunodeficiency v1.60 LCP1 Zornitza Stark Classified gene: LCP1 as Amber List (moderate evidence)
Combined Immunodeficiency v1.60 LCP1 Zornitza Stark Gene: lcp1 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.59 LCP1 Zornitza Stark reviewed gene: LCP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bone marrow failure syndrome, MONDO:0000159, LCP1-related; Mode of inheritance: None
Mendeliome v1.1782 CLIC2 Zornitza Stark edited their review of gene: CLIC2: Added comment: DISPUTED by ClinGen.; Changed phenotypes: Intellectual disability, X-linked, syndromic 32, 300886
Intellectual disability syndromic and non-syndromic v0.5810 CLIC2 Zornitza Stark Phenotypes for gene: CLIC2 were changed from Mental retardation, X-linked, syndromic 32, 300886 to Intellectual disability, X-linked, syndromic 32, 300886
Intellectual disability syndromic and non-syndromic v0.5809 CLIC2 Zornitza Stark Tag disputed tag was added to gene: CLIC2.
Mendeliome v1.1782 UFSP2 Zornitza Stark Publications for gene: UFSP2 were set to 33473208; 26428751; 28892125; 32755715
Mendeliome v1.1781 UFSP2 Zornitza Stark edited their review of gene: UFSP2: Added comment: PMID: 37214758:

Additional patient with spondyloepimetaphyseal dysplasia type Di Rocco:
- het missense Cys302Ser
- confirmed de novo in segregation analyses
- absent in gnomAD
- no functional studies on the missense.

Four AD missense reported in the literature so far are located in the C-term catalytic domain - 1x hip dysplasia, Beukes type and 3x spondyloepimetaphyseal dysplasia type Di Rocco.

The well reported AR missense (associated with neurodevelopmental anomalies and epilepsy) is located in the N-terminal domain possibly involved in substrate binding.; Changed publications: 33473208, 26428751, 28892125, 32755715, 37214758
Skeletal dysplasia v0.274 UFSP2 Zornitza Stark Publications for gene: UFSP2 were set to 28892125; 26428751; 32755715
Skeletal dysplasia v0.273 UFSP2 Zornitza Stark Classified gene: UFSP2 as Green List (high evidence)
Skeletal dysplasia v0.273 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Green List (High Evidence).
Mendeliome v1.1781 CNTN6 Zornitza Stark Tag disputed tag was added to gene: CNTN6.
Intellectual disability syndromic and non-syndromic v0.5809 CNTN6 Zornitza Stark Tag disputed tag was added to gene: CNTN6.
Intellectual disability syndromic and non-syndromic v0.5809 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Intellectual disability syndromic and non-syndromic v0.5809 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5809 DHCR7 Zornitza Stark Publications for gene: DHCR7 were set to
Intellectual disability syndromic and non-syndromic v0.5808 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome MONDO:0010035
Intellectual disability syndromic and non-syndromic v0.5807 DHCR7 Zornitza Stark Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5806 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Intellectual disability syndromic and non-syndromic v0.5806 DKC1 Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5806 DKC1 Zornitza Stark Publications for gene: DKC1 were set to
Intellectual disability syndromic and non-syndromic v0.5805 DKC1 Zornitza Stark Phenotypes for gene: DKC1 were changed from to DKC1-related disorder MONDO:0100152
Intellectual disability syndromic and non-syndromic v0.5804 DKC1 Zornitza Stark Mode of inheritance for gene: DKC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Microcephaly v1.260 DPP6 Zornitza Stark Tag disputed tag was added to gene: DPP6.
Mendeliome v1.1781 DPP6 Zornitza Stark Phenotypes for gene: DPP6 were changed from Mental retardation, autosomal dominant 33 (MIM#616311) to Intellectual disability, autosomal dominant 33 (MIM#616311)
Mendeliome v1.1780 DPP6 Zornitza Stark Classified gene: DPP6 as Red List (low evidence)
Mendeliome v1.1780 DPP6 Zornitza Stark Gene: dpp6 has been classified as Red List (Low Evidence).
Mendeliome v1.1779 DPP6 Zornitza Stark Tag disputed tag was added to gene: DPP6.
Mendeliome v1.1779 DPP6 Zornitza Stark edited their review of gene: DPP6: Added comment: DISPUTED by ClinGen.; Changed rating: RED; Changed phenotypes: Intellectual disability, autosomal dominant 33 (MIM#616311)
Microcephaly v1.260 DPP6 Zornitza Stark Phenotypes for gene: DPP6 were changed from Mental retardation, autosomal dominant 33 (MIM#616311) to Intellectual disability, autosomal dominant 33 (MIM#616311)
Microcephaly v1.259 DPP6 Zornitza Stark Classified gene: DPP6 as Red List (low evidence)
Microcephaly v1.259 DPP6 Zornitza Stark Gene: dpp6 has been classified as Red List (Low Evidence).
Microcephaly v1.258 DPP6 Zornitza Stark edited their review of gene: DPP6: Added comment: DISPUTED by ClinGen.; Changed rating: RED; Changed phenotypes: Intellectual disability, autosomal dominant 33 (MIM#616311); Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5803 DPP6 Zornitza Stark Phenotypes for gene: DPP6 were changed from Mental retardation, autosomal dominant 33 (MIM#616311) to Intellectual disability, autosomal dominant 33 (MIM#616311)
Intellectual disability syndromic and non-syndromic v0.5802 DPP6 Zornitza Stark Classified gene: DPP6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.5802 DPP6 Zornitza Stark Gene: dpp6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5801 DPP6 Zornitza Stark Tag disputed tag was added to gene: DPP6.
Intellectual disability syndromic and non-syndromic v0.5801 FBN1 Zornitza Stark Tag disputed tag was added to gene: FBN1.
Intellectual disability syndromic and non-syndromic v0.5801 FLNA Zornitza Stark Marked gene: FLNA as ready
Intellectual disability syndromic and non-syndromic v0.5801 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5801 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from to Heterotopia, periventricular, 1, MIM# 300049
Intellectual disability syndromic and non-syndromic v0.5800 FLNA Zornitza Stark Publications for gene: FLNA were set to
Intellectual disability syndromic and non-syndromic v0.5799 FLNA Zornitza Stark Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5798 FLNA Sangavi Sivagnanasundram reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004863; Phenotypes: periventricular nodular heterotopia MONDO:0020341; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5798 FBN1 Sangavi Sivagnanasundram reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004823; Phenotypes: Shprintzen-Goldberg syndrome MONDO:0008426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5798 DPP6 Sangavi Sivagnanasundram reviewed gene: DPP6: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004701; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5798 DKC1 Sangavi Sivagnanasundram reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004651; Phenotypes: DKC1-related disorder MONDO:0100152; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5798 DHCR7 Sangavi Sivagnanasundram reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004643; Phenotypes: Smith-Lemli-Opitz syndrome MONDO:0010035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5798 CNTN6 Sangavi Sivagnanasundram reviewed gene: CNTN6: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004489; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.272 UFSP2 Chern Lim reviewed gene: UFSP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37214758; Phenotypes: Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.5798 CLIC2 Sangavi Sivagnanasundram reviewed gene: CLIC2: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004469; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v1.59 LCP1 Peter McNaughton gene: LCP1 was added
gene: LCP1 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: LCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LCP1 were set to PMID: 38710235
Phenotypes for gene: LCP1 were set to lymphopaenia and neutropaenia
Mode of pathogenicity for gene: LCP1 was set to Other
Review for gene: LCP1 was set to AMBER
Added comment: 3 individuals from single kindred presenting with fevers, recurrent infections ,lymphopaenia, neutropaenia and thrombocytopaenia. Murine model with similar phenotype.
heterozygous LCP1c.740 -1G>A splice site variant hypothesized to cause dominant negative mode of inheritance
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5798 CDH15 Sangavi Sivagnanasundram reviewed gene: CDH15: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004393; Phenotypes: intellectual disability MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5798 CASK Sangavi Sivagnanasundram reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004345; Phenotypes: X-linked syndromic intellectual disability MONDO:0020119; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5798 BCORL1 Sangavi Sivagnanasundram reviewed gene: BCORL1: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004254; Phenotypes: Shukla-Vernon syndrome MONDO:0026727; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5798 BAZ2B Sangavi Sivagnanasundram reviewed gene: BAZ2B: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004237; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5798 AVPR1A Sangavi Sivagnanasundram reviewed gene: AVPR1A: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004223; Phenotypes: autism spectrum disorder MONDO:0005258; Mode of inheritance: Unknown
Intellectual disability syndromic and non-syndromic v0.5798 KDM5A Zornitza Stark Phenotypes for gene: KDM5A were changed from Neurodevelopmental disorder MONDO:0700092, KDM5A-related to Neurodevelopmental disorder MONDO:0700092, KDM5A-related; El Hayek-Chahrour neurodevelopmental syndrome, MIM# 620820
Intellectual disability syndromic and non-syndromic v0.5797 KDM5A Zornitza Stark edited their review of gene: KDM5A: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, KDM5A-related, El Hayek-Chahrour neurodevelopmental syndrome, MIM# 620820
Mendeliome v1.1779 KDM5A Zornitza Stark Phenotypes for gene: KDM5A were changed from autism spectrum disorder, MONDO:0005258; Neurodevelopmental disorder MONDO:0700092, KDM5A-related to El Hayek-Chahrour neurodevelopmental syndrome, MIM# 620820; Neurodevelopmental disorder MONDO:0700092, KDM5A-related
Mendeliome v1.1778 KDM5A Zornitza Stark reviewed gene: KDM5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: El Hayek-Chahrour neurodevelopmental syndrome, MIM# 620820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.192 GTPBP3 Zornitza Stark Marked gene: GTPBP3 as ready
Cardiomyopathy_Paediatric v0.192 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.192 GTPBP3 Zornitza Stark Classified gene: GTPBP3 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.192 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.191 GTPBP3 Zornitza Stark gene: GTPBP3 was added
gene: GTPBP3 was added to Cardiomyopathy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP3 were set to 34276756; 25434004
Phenotypes for gene: GTPBP3 were set to Combined oxidative phosphorylation deficiency 23 MIM#616198
Review for gene: GTPBP3 was set to GREEN
Added comment: Clinical presentation: early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem.

At least 12 unrelated individuals reported.
Sources: Expert Review
Malignant Hyperthermia Susceptibility v1.8 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Genetic Epilepsy v0.2666 STAT3 Ain Roesley Marked gene: STAT3 as ready
Genetic Epilepsy v0.2666 STAT3 Ain Roesley Gene: stat3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2666 STAT3 Ain Roesley gene: STAT3 was added
gene: STAT3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: STAT3 was set to Unknown
Publications for gene: STAT3 were set to 36935347
Review for gene: STAT3 was set to RED
gene: STAT3 was marked as current diagnostic
Added comment: No evidence of STAT3 being reported in individuals with seizures/epilepsy. Only mouse models.
Sources: Literature
Genetic Epilepsy v0.2665 KCNIP4 Ain Roesley Marked gene: KCNIP4 as ready
Genetic Epilepsy v0.2665 KCNIP4 Ain Roesley Gene: kcnip4 has been classified as Red List (Low Evidence).
Mendeliome v1.1778 KCNIP4 Ain Roesley Marked gene: KCNIP4 as ready
Mendeliome v1.1778 KCNIP4 Ain Roesley Gene: kcnip4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2665 KCNIP4 Ain Roesley gene: KCNIP4 was added
gene: KCNIP4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KCNIP4 was set to Unknown
Publications for gene: KCNIP4 were set to 33826137
Phenotypes for gene: KCNIP4 were set to seizures; epilepsy
Review for gene: KCNIP4 was set to RED
gene: KCNIP4 was marked as current diagnostic
Added comment: single paper describing insertions of L1 retrotransposons in KCNIP4
samples were post-mortem of resected temporal cortex from individuals with idiopathic temporal lobe epilepsy

1x de novo insertion of L1 in KCNIP4 however ddPCR revealed that this did NOT alter KCNIP4 mRNA expression
Sources: Literature
Mendeliome v1.1778 KCNIP4 Ain Roesley gene: KCNIP4 was added
gene: KCNIP4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KCNIP4 was set to Unknown
Publications for gene: KCNIP4 were set to 33826137
Phenotypes for gene: KCNIP4 were set to seizures; epilepsy
Review for gene: KCNIP4 was set to RED
gene: KCNIP4 was marked as current diagnostic
Added comment: single paper describing insertions of L1 retrotransposons in KCNIP4
samples were post-mortem of resected temporal cortex from individuals with idiopathic temporal lobe epilepsy

1x de novo insertion of L1 in KCNIP4 however ddPCR revealed that this did NOT alter KCNIP4 mRNA expression
Sources: Literature
Genetic Epilepsy v0.2664 IDH1 Ain Roesley Marked gene: IDH1 as ready
Genetic Epilepsy v0.2664 IDH1 Ain Roesley Gene: idh1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2664 IDH1 Ain Roesley gene: IDH1 was added
gene: IDH1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: IDH1 was set to Other
Phenotypes for gene: IDH1 were set to Ollier disease MONDO:0008145; Maffucci syndromeMONDO:0013808
Review for gene: IDH1 was set to RED
gene: IDH1 was marked as current diagnostic
Added comment: unable to find evidence of seizures/epilepsy for Ollier or Maffucci syndrome
Sources: Literature
Genetic Epilepsy v0.2663 FGFR1 Ain Roesley Marked gene: FGFR1 as ready
Genetic Epilepsy v0.2663 FGFR1 Ain Roesley Gene: fgfr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2663 FGFR1 Ain Roesley Classified gene: FGFR1 as Green List (high evidence)
Genetic Epilepsy v0.2663 FGFR1 Ain Roesley Gene: fgfr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2662 FGFR1 Ain Roesley gene: FGFR1 was added
gene: FGFR1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: FGFR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FGFR1 were set to 26937548; 31512363; 23812909; 26931467
Phenotypes for gene: FGFR1 were set to Hartsfield syndrome (MIM#615465)
Review for gene: FGFR1 was set to GREEN
gene: FGFR1 was marked as current diagnostic
Added comment: Seizures is part of the phenotypic spectrum of Hartsfield Syndrome

*rare reports of AR Hartsfield
Sources: Literature
Mendeliome v1.1777 CHRNA7 Ain Roesley Marked gene: CHRNA7 as ready
Mendeliome v1.1777 CHRNA7 Ain Roesley Gene: chrna7 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2661 CHRNA7 Ain Roesley Marked gene: CHRNA7 as ready
Genetic Epilepsy v0.2661 CHRNA7 Ain Roesley Gene: chrna7 has been classified as Red List (Low Evidence).
Mendeliome v1.1777 CHRNA7 Ain Roesley gene: CHRNA7 was added
gene: CHRNA7 was added to Mendeliome. Sources: Literature
cnv tags were added to gene: CHRNA7.
Mode of inheritance for gene: CHRNA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNA7 were set to 20979196; 21596161; 21290787
Phenotypes for gene: CHRNA7 were set to intellectual disability; seizures; hypotonia
Review for gene: CHRNA7 was set to RED
gene: CHRNA7 was marked as current diagnostic
Added comment: Homozygous deletion of 15q13.3, which includes CHRNA7, causes ID, hypotonia, seizures, encephalopathy
Sources: Literature
Genetic Epilepsy v0.2661 CHRNA7 Ain Roesley gene: CHRNA7 was added
gene: CHRNA7 was added to Genetic Epilepsy. Sources: Literature
cnv tags were added to gene: CHRNA7.
Mode of inheritance for gene: CHRNA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNA7 were set to 20979196; 21596161; 21290787
Phenotypes for gene: CHRNA7 were set to intellectual disability; seizures; hypotonia
Review for gene: CHRNA7 was set to RED
gene: CHRNA7 was marked as current diagnostic
Added comment: Homozygous deletion of 15q13.3, which includes CHRNA7, causes ID, hypotonia, seizures, encephalopathy
Sources: Literature
Monogenic Diabetes v0.107 NEUROD1 Hali Van Niel reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22784109, 29521454, 10545951, 11575290; Phenotypes: maturity-onset diabetes of the young type 6 MONDO:0011668; Mode of inheritance: Unknown
Monogenic Diabetes v0.107 PDX1 Hali Van Niel reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326926, 10545531, 10720084, 12970316, 20009086, 19496967; Phenotypes: maturity-onset diabetes of the young type 4 MONDO:0011667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.107 PTF1A Hali Van Niel edited their review of gene: PTF1A: Changed publications: 24212882, 21749365, 10507728, 15543146, 19650412, 37854477
Monogenic Diabetes v0.107 PTF1A Hali Van Niel edited their review of gene: PTF1A: Changed rating: GREEN
Monogenic Diabetes v0.107 PTF1A Hali Van Niel reviewed gene: PTF1A: Rating: ; Mode of pathogenicity: None; Publications: 24212882, 21749365, 10507728, 15543146, 19650412; Phenotypes: permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome MONDO:0012192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.107 ZFP57 Hali Van Niel reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: 18622393, 27075368, 23150280, 30315371, 35218690, 28334746; Phenotypes: transient neonatal diabetes mellitus MONDO:0020525; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v0.107 CAV1 Hali Van Niel reviewed gene: CAV1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18211975; Phenotypes: diabetes mellitus MONDO:0005015, congenital generalized lipodystrophy type 1 MONDO:0012071; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v0.107 CIDEC Hali Van Niel reviewed gene: CIDEC: Rating: RED; Mode of pathogenicity: None; Publications: 20049731; Phenotypes: CIDEC-related familial partial lipodystrophy MONDO:0014098; Mode of inheritance: Unknown
Monogenic Diabetes v0.107 COQ2 Hali Van Niel reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16400613, 30337132, 26296322; Phenotypes: neonatal diabetes mellitus MONDO:0016391, coenzyme Q10 deficiency, primary, 1 MONDO:0011829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5797 ANKRD11 Sangavi Sivagnanasundram reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25413698, https://search.clinicalgenome.org/CCID:004133; Phenotypes: KBG syndrome MONDO:0007846; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.107 LIPC Hali Van Niel edited their review of gene: LIPC: Changed publications: 1671786, 12777476, 1883393, 22798447, 15126514, 18364377, 32617858
Monogenic Diabetes v0.107 LIPC Hali Van Niel reviewed gene: LIPC: Rating: RED; Mode of pathogenicity: None; Publications: 1671786, 12777476, 1883393, 22798447; Phenotypes: diabetes mellitus MONDO:0005015; Mode of inheritance: Unknown
Intellectual disability syndromic and non-syndromic v0.5797 AGTR2 Sangavi Sivagnanasundram reviewed gene: AGTR2: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004075; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.1776 DNA2 Zornitza Stark Phenotypes for gene: DNA2 were changed from Seckel syndrome 8, MIM#615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156 to Rothmund-Thomson syndrome, type 4, MIM# 620819; Seckel syndrome 8, MIM#615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156
Mendeliome v1.1775 DNA2 Zornitza Stark Publications for gene: DNA2 were set to 24389050; 31045292; 23352259; 25635128; 28554558
Mendeliome v1.1774 DNA2 Zornitza Stark reviewed gene: DNA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 37133451; Phenotypes: Rothmund-Thomson syndrome, type 4, MIM# 620819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.366 DNA2 Zornitza Stark Phenotypes for gene: DNA2 were changed from Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated to Rothmund-Thomson syndrome, type 4, MIM# 620819
Cataract v0.365 DNA2 Zornitza Stark reviewed gene: DNA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Rothmund-Thomson syndrome, type 4, MIM# 620819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5797 MAST3 Sarah Leigh reviewed gene: MAST3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35095415; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v0.2660 MAST3 Sarah Leigh reviewed gene: MAST3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35095415; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.5797 SPR Amy Chiang edited their review of gene: SPR: Added comment: SPR has been classified to have definitive association with dopa-responsive dystonia (reviewed by the Aminoacidopathy Expert Panel on 06/04/2021).

Clinical phenotypes are mainly neuromuscular with characteristic features of axial hypotonia, dystonia, delayed psychomotor development, oculogyric crises, diurnal fluctuation with improvement after sleep; though cognitive impairment ranging from mild to severe levels have been reported in patients with sepiapterin reductase deficiency (PMID: 16049044, 17188538) - 7 Maltese patients with the same homozygous spice variants in SPR (founder effect due to relative small Maltese population); note there was no significant improvement in cognitive ability with L-dopa treatment in these patients despite improvement in their motor abilities (PMID: 16049044) - ? other causes to cognitive impairment in these patients other than SPR associated sepiapterin reductase deficiency

There are 271 SPR variants registered in ClinVar to date with only 1 submission from a research lab reported 2 affected individuals with intellectual disability + family history (ClinVar # 625209) - no publication available to verify, ? from BRIDGE consortium study: SPEED project cohort
A start loss variant detected in 5 affected individuals with ID & epilepsy from a Persian consanguineous family - LOD score = 4.027 (PMID: 29302074); Changed publications: PMID: 29302074, 16049044, 17188538; Changed phenotypes: MONDO #0012994, OMIM #612716, axial hypotonia, dystonia with diurnal fluctuation, oculogyric crises, delayed psychomotor development, sepiapterin reductase deficiency
Fetal anomalies v1.243 CCDC114 Zornitza Stark Tag new gene name tag was added to gene: CCDC114.
Mendeliome v1.1774 CCDC114 Zornitza Stark Tag new gene name tag was added to gene: CCDC114.
Heterotaxy v1.32 CCDC114 Zornitza Stark Tag new gene name tag was added to gene: CCDC114.
Ciliary Dyskinesia v1.39 CCDC114 Zornitza Stark Tag new gene name tag was added to gene: CCDC114.
Prepair 1000+ v1.6 ARMC4 Zornitza Stark Tag new gene name tag was added to gene: ARMC4.
Fetal anomalies v1.243 ARMC4 Zornitza Stark Tag new gene name tag was added to gene: ARMC4.
Mendeliome v1.1774 ARMC4 Zornitza Stark Tag new gene name tag was added to gene: ARMC4.
Heterotaxy v1.32 ARMC4 Zornitza Stark Tag new gene name tag was added to gene: ARMC4.
Ciliary Dyskinesia v1.39 ARMC4 Zornitza Stark Tag new gene name tag was added to gene: ARMC4.
Fetal anomalies v1.243 CCDC151 Zornitza Stark Tag new gene name tag was added to gene: CCDC151.
Mendeliome v1.1774 CCDC151 Zornitza Stark Tag new gene name tag was added to gene: CCDC151.
Heterotaxy v1.32 CCDC151 Zornitza Stark Tag new gene name tag was added to gene: CCDC151.
Ciliary Dyskinesia v1.39 CCDC151 Zornitza Stark Tag new gene name tag was added to gene: CCDC151.
Fetal anomalies v1.243 TTC25 Zornitza Stark Tag new gene name tag was added to gene: TTC25.
Heterotaxy v1.32 TTC25 Zornitza Stark Tag new gene name tag was added to gene: TTC25.
Ciliary Dyskinesia v1.39 TTC25 Zornitza Stark Tag new gene name tag was added to gene: TTC25.
Congenital Heart Defect v0.418 TTC25 Zornitza Stark Tag new gene name tag was added to gene: TTC25.
Mendeliome v1.1774 TTC25 Zornitza Stark Tag new gene name tag was added to gene: TTC25.
Syndromic Retinopathy v0.209 ADAMTS18 Zornitza Stark Marked gene: ADAMTS18 as ready
Syndromic Retinopathy v0.209 ADAMTS18 Zornitza Stark Gene: adamts18 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.209 ADAMTS18 Zornitza Stark Phenotypes for gene: ADAMTS18 were changed from Microcornea, myopic chorioretinal atrophy, and telecanthus; Genetic Retinal Degeneration Conditions to microcornea-myopic chorioretinal atrophy (MONDO:0014195)
Mendeliome v1.1774 ADAMTS18 Zornitza Stark Marked gene: ADAMTS18 as ready
Mendeliome v1.1774 ADAMTS18 Zornitza Stark Gene: adamts18 has been classified as Green List (High Evidence).
Mendeliome v1.1774 ADAMTS18 Zornitza Stark Classified gene: ADAMTS18 as Green List (high evidence)
Mendeliome v1.1774 ADAMTS18 Zornitza Stark Gene: adamts18 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.147 AIPL1 Zornitza Stark Marked gene: AIPL1 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.147 AIPL1 Zornitza Stark Gene: aipl1 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.147 AIPL1 Zornitza Stark Phenotypes for gene: AIPL1 were changed from Retinitis pigmentosa, juvenile; Leber congenital amaurosis 4; Cone-rod dystrophy to AIPL1-related retinopathy (MONDO:0100438)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.146 AIPL1 Zornitza Stark Publications for gene: AIPL1 were set to
Mendeliome v1.1773 FOXD3 Zornitza Stark Tag disputed tag was added to gene: FOXD3.
Mendeliome v1.1773 NTF4 Zornitza Stark Tag disputed tag was added to gene: NTF4.
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.145 C2orf71 Zornitza Stark Tag new gene name tag was added to gene: C2orf71.
Mendeliome v1.1773 C2orf71 Zornitza Stark Tag new gene name tag was added to gene: C2orf71.
Mendeliome v1.1773 SPATA13 Zornitza Stark Phenotypes for gene: SPATA13 were changed from primary angle-closure glaucoma to primary angle-closure glaucoma MONDO:0001868
Mendeliome v1.1772 SPATA13 Zornitza Stark Classified gene: SPATA13 as Amber List (moderate evidence)
Mendeliome v1.1772 SPATA13 Zornitza Stark Gene: spata13 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1771 WDR36 Zornitza Stark Classified gene: WDR36 as Red List (low evidence)
Mendeliome v1.1771 WDR36 Zornitza Stark Gene: wdr36 has been classified as Red List (Low Evidence).
Mendeliome v1.1770 WDR36 Zornitza Stark Tag disputed tag was added to gene: WDR36.
Deafness_IsolatedAndComplex v1.182 KARS Zornitza Stark Tag new gene name tag was added to gene: KARS.
Deafness_IsolatedAndComplex v1.182 TCOF1 Zornitza Stark Classified gene: TCOF1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.182 TCOF1 Zornitza Stark Gene: tcof1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.181 TCOF1 Zornitza Stark Classified gene: TCOF1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.181 TCOF1 Zornitza Stark Gene: tcof1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.180 TCOF1 Zornitza Stark Marked gene: TCOF1 as ready
Deafness_IsolatedAndComplex v1.180 TCOF1 Zornitza Stark Gene: tcof1 has been removed from the panel.
Deafness_IsolatedAndComplex v1.180 TJP2 Sangavi Sivagnanasundram reviewed gene: TJP2: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006375; Phenotypes: nonsyndromic genetic hearing loss MONDO:0019497; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.180 TCOF1 Sangavi Sivagnanasundram gene: TCOF1 was added
gene: TCOF1 was added to Deafness_IsolatedAndComplex. Sources: Other
Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCOF1 were set to https://search.clinicalgenome.org/CCID:006342
Phenotypes for gene: TCOF1 were set to Treacher-Collins syndrome (MONDO:0002457)
Review for gene: TCOF1 was set to GREEN
Added comment: Classified DEFINITIVE by ClinGen Hearing Loss on 17/09/2019 - https://search.clinicalgenome.org/CCID:006342

The mechanism of disease is haploinsufficiency.
Sources: Other
Deafness_IsolatedAndComplex v1.180 KARS Sangavi Sivagnanasundram commented on gene: KARS
Mendeliome v1.1770 WDR36 Sangavi Sivagnanasundram reviewed gene: WDR36: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006545; Phenotypes: glaucoma 1, open angle, G MONDO:0012357; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1770 SPATA13 Sangavi Sivagnanasundram reviewed gene: SPATA13: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006261; Phenotypes: primary angle-closure glaucoma MONDO:0001868; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1770 C2orf71 Sangavi Sivagnanasundram reviewed gene: C2orf71: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005738; Phenotypes: PCARE-related retinopathy MONDO:0800404; Mode of inheritance: None
Mendeliome v1.1770 NTF4 Sangavi Sivagnanasundram reviewed gene: NTF4: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005684; Phenotypes: glaucoma 1, open angle, O MONDO:0013134; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1770 FOXD3 Sangavi Sivagnanasundram reviewed gene: FOXD3: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004877; Phenotypes: aniridia MONDO:0019172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Macular Dystrophy/Stargardt Disease v0.45 CDH3 Sangavi Sivagnanasundram reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004398; Phenotypes: EEM syndrome MONDO:0009155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.145 AIPL1 Sangavi Sivagnanasundram reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004084; Phenotypes: AIPL1-related retinopathy (MONDO:0100438); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1770 ADAMTS18 Sangavi Sivagnanasundram gene: ADAMTS18 was added
gene: ADAMTS18 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: ADAMTS18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS18 were set to https://search.clinicalgenome.org/CCID:004057
Phenotypes for gene: ADAMTS18 were set to microcornea-myopic chorioretinal atrophy (MONDO:0014195)
Review for gene: ADAMTS18 was set to GREEN
Added comment: Classified DEFINITIVE by ClinGen Retina GCEP on 02/03/20222 - https://search.clinicalgenome.org/CCID:004057
Sources: Other
Syndromic Retinopathy v0.208 ADAMTS18 Sangavi Sivagnanasundram reviewed gene: ADAMTS18: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004057; Phenotypes: microcornea-myopic chorioretinal atrophy (MONDO:0014195); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1770 TTC25 Sangavi Sivagnanasundram reviewed gene: TTC25: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005700; Phenotypes: primary ciliary dyskinesia 35 MONDO:0014910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.39 TTC25 Sangavi Sivagnanasundram reviewed gene: TTC25: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005700; Phenotypes: primary ciliary dyskinesia 35 MONDO:0014910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.39 CCDC151 Sangavi Sivagnanasundram reviewed gene: CCDC151: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005699; Phenotypes: primary ciliary dyskinesia 30 MONDO:0014465; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5797 COG4 Zornitza Stark Marked gene: COG4 as ready
Intellectual disability syndromic and non-syndromic v0.5797 COG4 Zornitza Stark Gene: cog4 has been classified as Green List (High Evidence).
Mendeliome v1.1770 CCDC151 Sangavi Sivagnanasundram reviewed gene: CCDC151: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005699; Phenotypes: primary ciliary dyskinesia 30 MONDO:0014465; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5797 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489
Ciliary Dyskinesia v1.39 ARMC4 Sangavi Sivagnanasundram reviewed gene: ARMC4: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005698; Phenotypes: primary ciliary dyskinesia 23 MONDO:0014193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1770 ARMC4 Sangavi Sivagnanasundram reviewed gene: ARMC4: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005698; Phenotypes: primary ciliary dyskinesia 23 MONDO:0014193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.39 CCDC114 Sangavi Sivagnanasundram commented on gene: CCDC114
Ciliary Dyskinesia v1.39 DNAH8 Sangavi Sivagnanasundram reviewed gene: DNAH8: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004671; Phenotypes: primary ciliary dyskinesia (MONDO:0016575); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1770 DNAH8 Sangavi Sivagnanasundram reviewed gene: DNAH8: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004671; Phenotypes: primary ciliary dyskinesia (MONDO:0016575), spermatogenic failure 46 (MONDO:0033673); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1770 DNAH17 Sangavi Sivagnanasundram changed review comment from: Classified DEFINITIVE by ClinGen on 08/09/2022 - https://search.clinicalgenome.org/CCID:004669
Sources: Other; to: Classified DEFINITIVE by ClinGen Motile Ciliopathies GCEP on 08/09/2022 - https://search.clinicalgenome.org/CCID:004669
Sources: Other
Ciliary Dyskinesia v1.39 DNAH17 Sangavi Sivagnanasundram changed review comment from: Classified DEFINITIVE by ClinGen on 08/09/2022 - https://search.clinicalgenome.org/CCID:004669
Sources: Other; to: Classified DEFINITIVE by ClinGen Motile Ciliopathies GCEP on 08/09/2022 - https://search.clinicalgenome.org/CCID:004669
Sources: Other
Ciliary Dyskinesia v1.39 DNAH5 Sangavi Sivagnanasundram reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004670; Phenotypes: primary ciliary dyskinesia 3 (MONDO:0012085); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1770 DNAH17 Sangavi Sivagnanasundram gene: DNAH17 was added
gene: DNAH17 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: DNAH17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH17 were set to https://search.clinicalgenome.org/CCID:004669
Phenotypes for gene: DNAH17 were set to spermatogenic failure 39 (MONDO:0032845)
Review for gene: DNAH17 was set to GREEN
Added comment: Classified DEFINITIVE by ClinGen on 08/09/2022 - https://search.clinicalgenome.org/CCID:004669
Sources: Other
Ciliary Dyskinesia v1.39 DNAH17 Sangavi Sivagnanasundram gene: DNAH17 was added
gene: DNAH17 was added to Ciliary Dyskinesia. Sources: Other
Mode of inheritance for gene: DNAH17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH17 were set to https://search.clinicalgenome.org/CCID:004669
Phenotypes for gene: DNAH17 were set to spermatogenic failure 39 (MONDO:0032845)
Review for gene: DNAH17 was set to GREEN
Added comment: Classified DEFINITIVE by ClinGen on 08/09/2022 - https://search.clinicalgenome.org/CCID:004669
Sources: Other
Ciliary Dyskinesia v1.39 LRRC6 Sangavi Sivagnanasundram reviewed gene: LRRC6: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004663; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.5796 SPR Amy Chiang changed review comment from: SPR has been classified to have definitive association with dopa-responsive dystonia. This was reviewed by the Aminoacidopathy Expert Panel on 06/04/2021.
There are 271 SPR variants registered in ClinVar to date with only 1 submission from a research lab reported 2 affected individuals with intellectual disability + family history (ClinVar # 625209) - no publication available to verify, ? from BRIDGE consortium study: SPEED project cohort
A start loss variant detected in 5 affected individuals with ID & epilepsy from a Persian consanguineous family - LOD score = 4.027 (PMID: 29302074); to: SPR has been classified to have definitive association with dopa-responsive dystonia. This was reviewed by the Aminoacidopathy Expert Panel on 06/04/2021.
There are 271 SPR variants registered in ClinVar to date with only 1 submission from a research lab reported 2 affected individuals with intellectual disability + family history (ClinVar # 625209) - no publication available to verify, ? from BRIDGE consortium study: SPEED project cohort
A start loss variant detected in 5 affected individuals with ID & epilepsy from a Persian consanguineous family - LOD score = 4.027 (PMID: 29302074)
Intellectual disability syndromic and non-syndromic v0.5796 SPR Amy Chiang reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29302074; Phenotypes: dopa-responsive dystonia due to sepiapterin reductase deficiency, MONDO: 0012994, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM: 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1770 SLC52A1 Bryony Thompson Classified gene: SLC52A1 as Amber List (moderate evidence)
Mendeliome v1.1770 SLC52A1 Bryony Thompson Added comment: Comment on list classification: Moderate gene-disease classification by ClinGen - https://search.clinicalgenome.org/CCID:006192
Mendeliome v1.1770 SLC52A1 Bryony Thompson Gene: slc52a1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1769 SLC52A1 Bryony Thompson Publications for gene: SLC52A1 were set to 29122468; 17689999
Mendeliome v1.1768 SLC52A1 Bryony Thompson reviewed gene: SLC52A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37510312, 29122468, 21089064; Phenotypes: Maternal riboflavin deficiency MONDO:0014013, Disorders of riboflavin metabolism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy - complex v1.14 SLC25A19 Bryony Thompson Marked gene: SLC25A19 as ready
Hereditary Neuropathy - complex v1.14 SLC25A19 Bryony Thompson Gene: slc25a19 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v1.14 SLC25A19 Bryony Thompson Classified gene: SLC25A19 as Green List (high evidence)
Hereditary Neuropathy - complex v1.14 SLC25A19 Bryony Thompson Gene: slc25a19 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v1.13 SLC25A19 Bryony Thompson gene: SLC25A19 was added
gene: SLC25A19 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A19 were set to 20301539
Phenotypes for gene: SLC25A19 were set to Progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382
Review for gene: SLC25A19 was set to GREEN
gene: SLC25A19 was marked as current diagnostic
Added comment: Neuropathy is a feature of the condition
Sources: Literature
Monogenic Diabetes v0.107 SLC2A2 Zornitza Stark Marked gene: SLC2A2 as ready
Monogenic Diabetes v0.107 SLC2A2 Zornitza Stark Gene: slc2a2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.107 SLC2A2 Zornitza Stark Phenotypes for gene: SLC2A2 were changed from {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome to Fanconi-Bickel syndrome, MIM# 227810
Monogenic Diabetes v0.106 AGPAT2 Zornitza Stark Marked gene: AGPAT2 as ready
Monogenic Diabetes v0.106 AGPAT2 Zornitza Stark Gene: agpat2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.106 AGPAT2 Zornitza Stark Phenotypes for gene: AGPAT2 were changed from neonatal diabetes mellitus to congenital generalized lipodystrophy type 1 MONDO:0012071
Monogenic Diabetes v0.105 AGPAT2 Zornitza Stark Publications for gene: AGPAT2 were set to PubMed PMID: 11967537, PubMed PMID: 12765973.
Monogenic Diabetes v0.104 SLC40A1 Zornitza Stark Marked gene: SLC40A1 as ready
Monogenic Diabetes v0.104 SLC40A1 Zornitza Stark Gene: slc40a1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.104 SLC40A1 Zornitza Stark Phenotypes for gene: SLC40A1 were changed from Hemochromatosis, type 4 606069 to Hemochromatosis, type 4, MIM# 606069
Monogenic Diabetes v0.103 SLC40A1 Zornitza Stark Publications for gene: SLC40A1 were set to
Monogenic Diabetes v0.102 SLC40A1 Zornitza Stark Mode of pathogenicity for gene: SLC40A1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.101 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Monogenic Diabetes v0.101 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.101 SLC29A3 Zornitza Stark Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome,602782; Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome; H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes) to Histiocytosis-lymphadenopathy plus syndrome, MIM#602782
Monogenic Diabetes v0.100 SLC29A3 Zornitza Stark Publications for gene: SLC29A3 were set to 19336477
Monogenic Diabetes v0.99 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Monogenic Diabetes v0.99 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.99 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME to thiamine-responsive megaloblastic anemia syndrome MONDO:0009575
Monogenic Diabetes v0.98 SLC19A2 Zornitza Stark Publications for gene: SLC19A2 were set to 26549656; 26839896
Monogenic Diabetes v0.97 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Monogenic Diabetes v0.97 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.97 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from Berardinelli-Seip congenital lipodystrophy to congenital generalized lipodystrophy type 2 MONDO:0010020; diabetes mellitus MONDO:0005015
Monogenic Diabetes v0.96 BSCL2 Zornitza Stark Publications for gene: BSCL2 were set to 11479539
Early-onset Dementia v1.22 POLG Zornitza Stark Classified gene: POLG as Amber List (moderate evidence)
Early-onset Dementia v1.22 POLG Zornitza Stark Gene: polg has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.95 PPP1R15B Zornitza Stark Marked gene: PPP1R15B as ready
Monogenic Diabetes v0.95 PPP1R15B Zornitza Stark Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.95 PPP1R15B Zornitza Stark Classified gene: PPP1R15B as Amber List (moderate evidence)
Monogenic Diabetes v0.95 PPP1R15B Zornitza Stark Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.94 PPP1R15B Zornitza Stark Publications for gene: PPP1R15B were set to
Early-onset Dementia v1.21 COL4A2 Zornitza Stark Classified gene: COL4A2 as Amber List (moderate evidence)
Early-onset Dementia v1.21 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.93 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Monogenic Diabetes v0.93 PAX6 Zornitza Stark Gene: pax6 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.93 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from Aniridia 106210; diabetes to Monogenic diabetes, MONDO:0015967, PAX6-related
Monogenic Diabetes v0.92 PAX6 Zornitza Stark Publications for gene: PAX6 were set to
Monogenic Diabetes v0.91 PAX6 Zornitza Stark Classified gene: PAX6 as Red List (low evidence)
Monogenic Diabetes v0.91 PAX6 Zornitza Stark Gene: pax6 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.90 PAX6 Zornitza Stark reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: 36202929; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.90 HNF4A Zornitza Stark Marked gene: HNF4A as ready
Monogenic Diabetes v0.90 HNF4A Zornitza Stark Gene: hnf4a has been classified as Green List (High Evidence).
Monogenic Diabetes v0.90 HNF4A Zornitza Stark Phenotypes for gene: HNF4A were changed from Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853 to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853
Monogenic Diabetes v0.89 HNF4A Zornitza Stark Publications for gene: HNF4A were set to 28242437
Monogenic Diabetes v0.88 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Monogenic Diabetes v0.88 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.88 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from Alstrom syndrome to Alstrom syndrome MONDO:0008763
Monogenic Diabetes v0.87 ALMS1 Zornitza Stark Publications for gene: ALMS1 were set to
Monogenic Diabetes v0.86 CISD2 Zornitza Stark Marked gene: CISD2 as ready
Monogenic Diabetes v0.86 CISD2 Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.86 CISD2 Zornitza Stark Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2604928 to Wolfram syndrome, MIM#2604928
Monogenic Diabetes v0.85 CISD2 Zornitza Stark Publications for gene: CISD2 were set to 25056293; 17846994
Monogenic Diabetes v0.84 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Monogenic Diabetes v0.84 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.84 DMXL2 Zornitza Stark Phenotypes for gene: DMXL2 were changed from Sensorineural Hearing Loss; OMIM:612186; ORPHA90636 to Polyendocrine-polyneuropathy syndrome , MIM# 616113
Monogenic Diabetes v0.83 DMXL2 Zornitza Stark Publications for gene: DMXL2 were set to 22875945; 27657680; 25248098
Monogenic Diabetes v0.82 DMXL2 Zornitza Stark Classified gene: DMXL2 as Red List (low evidence)
Monogenic Diabetes v0.82 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.81 STAT3 Zornitza Stark Marked gene: STAT3 as ready
Monogenic Diabetes v0.81 STAT3 Zornitza Stark Gene: stat3 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.81 STAT3 Zornitza Stark Phenotypes for gene: STAT3 were changed from to STAT3-related early-onset multisystem autoimmune disease MONDO:0014414
Monogenic Diabetes v0.80 STAT3 Zornitza Stark Publications for gene: STAT3 were set to 25038750; 27167055
Monogenic Diabetes v0.79 STAT1 Zornitza Stark Marked gene: STAT1 as ready
Monogenic Diabetes v0.79 STAT1 Zornitza Stark Gene: stat1 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.79 STAT1 Zornitza Stark Phenotypes for gene: STAT1 were changed from to autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599
Monogenic Diabetes v0.78 STAT1 Zornitza Stark Publications for gene: STAT1 were set to 23534974
Monogenic Diabetes v0.77 STAT1 Zornitza Stark Classified gene: STAT1 as Amber List (moderate evidence)
Monogenic Diabetes v0.77 STAT1 Zornitza Stark Gene: stat1 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.76 TRMT10A Zornitza Stark Marked gene: TRMT10A as ready
Monogenic Diabetes v0.76 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence).
Monogenic Diabetes v0.76 TRMT10A Zornitza Stark Phenotypes for gene: TRMT10A were changed from Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033 to Microcephaly, short stature, and impaired glucose metabolism 1, 616033
Monogenic Diabetes v0.75 TRMT10A Zornitza Stark Publications for gene: TRMT10A were set to 26297882; 24204302
Paroxysmal Dyskinesia v0.131 SCN8A Zornitza Stark Marked gene: SCN8A as ready
Paroxysmal Dyskinesia v0.131 SCN8A Zornitza Stark Gene: scn8a has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.131 SCN8A Zornitza Stark Phenotypes for gene: SCN8A were changed from to Complex neurodevelopmental disorder MONDO:0100038
Paroxysmal Dyskinesia v0.130 SCN8A Zornitza Stark Publications for gene: SCN8A were set to
Paroxysmal Dyskinesia v0.129 SCN8A Zornitza Stark Mode of inheritance for gene: SCN8A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.128 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Paroxysmal Dyskinesia v0.128 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.128 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from to GLUT1 deficiency syndrome MONDO:0000188
Paroxysmal Dyskinesia v0.127 SLC2A1 Zornitza Stark Publications for gene: SLC2A1 were set to
Paroxysmal Dyskinesia v0.126 SLC2A1 Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.243 BRWD1 Zornitza Stark changed review comment from: Single individual with situs inversus.; to: Single individual with situs inversus.

Whole gene-disease relationship assessed as DISPUTED by ClinGen.
Fetal anomalies v1.243 BRWD1 Zornitza Stark Tag disputed tag was added to gene: BRWD1.
Mendeliome v1.1768 BRWD1 Zornitza Stark Tag disputed tag was added to gene: BRWD1.
Ciliary Dyskinesia v1.39 BRWD1 Zornitza Stark Tag disputed tag was added to gene: BRWD1.
Ciliary Dyskinesia v1.39 BRWD1 Zornitza Stark Classified gene: BRWD1 as Red List (low evidence)
Ciliary Dyskinesia v1.39 BRWD1 Zornitza Stark Gene: brwd1 has been classified as Red List (Low Evidence).
Mendeliome v1.1768 BRWD1 Zornitza Stark Classified gene: BRWD1 as Red List (low evidence)
Mendeliome v1.1768 BRWD1 Zornitza Stark Gene: brwd1 has been classified as Red List (Low Evidence).
Renal Tubulopathies and related disorders v1.14 SLC6A20 Bryony Thompson Marked gene: SLC6A20 as ready
Renal Tubulopathies and related disorders v1.14 SLC6A20 Bryony Thompson Gene: slc6a20 has been classified as Red List (Low Evidence).
Renal Tubulopathies and related disorders v1.14 SLC6A20 Bryony Thompson Publications for gene: SLC6A20 were set to 24816252; 19033659
Renal Tubulopathies and related disorders v1.13 SLC6A20 Bryony Thompson Classified gene: SLC6A20 as Red List (low evidence)
Renal Tubulopathies and related disorders v1.13 SLC6A20 Bryony Thompson Gene: slc6a20 has been classified as Red List (Low Evidence).
Renal Tubulopathies and related disorders v1.12 SLC6A20 Bryony Thompson reviewed gene: SLC6A20: Rating: RED; Mode of pathogenicity: None; Publications: 19033659, 36820062, 24816252; Phenotypes: Hyperglycinuria MONDO:0007677; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1767 SLC6A20 Bryony Thompson Publications for gene: SLC6A20 were set to 24816252; 19033659
Mendeliome v1.1766 SLC6A20 Bryony Thompson Classified gene: SLC6A20 as Red List (low evidence)
Mendeliome v1.1766 SLC6A20 Bryony Thompson Gene: slc6a20 has been classified as Red List (Low Evidence).
Mendeliome v1.1765 SLC6A20 Bryony Thompson reviewed gene: SLC6A20: Rating: RED; Mode of pathogenicity: None; Publications: 19033659, 36820062, 24816252; Phenotypes: Hyperglycinuria MONDO:0007677; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy - paediatric v0.308 NFE2L2 Bryony Thompson Marked gene: NFE2L2 as ready
Leukodystrophy - paediatric v0.308 NFE2L2 Bryony Thompson Gene: nfe2l2 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.308 NFE2L2 Bryony Thompson Classified gene: NFE2L2 as Green List (high evidence)
Leukodystrophy - paediatric v0.308 NFE2L2 Bryony Thompson Gene: nfe2l2 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.307 NFE2L2 Bryony Thompson gene: NFE2L2 was added
gene: NFE2L2 was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFE2L2 were set to 29018201
Phenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591; Disorders of glutathione metabolism
Mode of pathogenicity for gene: NFE2L2 was set to Other
Review for gene: NFE2L2 was set to GREEN
gene: NFE2L2 was marked as current diagnostic
Added comment: Paediatric-onset leukoencephalopathy is a feature of the condition.
Sources: Literature
Mendeliome v1.1765 NFE2L2 Bryony Thompson Tag treatable tag was added to gene: NFE2L2.
Mendeliome v1.1765 BRWD1 Sangavi Sivagnanasundram reviewed gene: BRWD1: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004289; Phenotypes: primary ciliary dyskinesia MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.38 BRWD1 Sangavi Sivagnanasundram reviewed gene: BRWD1: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004289; Phenotypes: primary ciliary dyskinesia MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2660 PNPO Zornitza Stark Marked gene: PNPO as ready
Genetic Epilepsy v0.2660 PNPO Zornitza Stark Gene: pnpo has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2660 PNPO Zornitza Stark Phenotypes for gene: PNPO were changed from Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090 to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
Genetic Epilepsy v0.2659 PNPO Zornitza Stark Phenotypes for gene: PNPO were changed from to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
Genetic Epilepsy v0.2658 PNPO Zornitza Stark Publications for gene: PNPO were set to 34769443; 33981986; 33748042; 32888189
Genetic Epilepsy v0.2657 PNPO Zornitza Stark Publications for gene: PNPO were set to
Genetic Epilepsy v0.2656 PNPO Zornitza Stark Mode of inheritance for gene: PNPO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2655 PNKP Zornitza Stark Marked gene: PNKP as ready
Genetic Epilepsy v0.2655 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2655 PNKP Zornitza Stark Phenotypes for gene: PNKP were changed from to Microcephaly, seizures, and developmental delay, MIM# 613402
Genetic Epilepsy v0.2654 PNKP Zornitza Stark Publications for gene: PNKP were set to
Genetic Epilepsy v0.2653 PNKP Zornitza Stark Mode of inheritance for gene: PNKP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2652 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Genetic Epilepsy v0.2652 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2652 PMM2 Zornitza Stark Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia (MIM#212065); Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related
Genetic Epilepsy v0.2651 PMM2 Zornitza Stark Publications for gene: PMM2 were set to
Genetic Epilepsy v0.2650 PMM2 Zornitza Stark Mode of inheritance for gene: PMM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2649 PIK3R2 Zornitza Stark Marked gene: PIK3R2 as ready
Genetic Epilepsy v0.2649 PIK3R2 Zornitza Stark Gene: pik3r2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2649 PIK3R2 Zornitza Stark Phenotypes for gene: PIK3R2 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387
Genetic Epilepsy v0.2648 PIK3R2 Zornitza Stark Publications for gene: PIK3R2 were set to
Genetic Epilepsy v0.2647 PIK3R2 Zornitza Stark Mode of inheritance for gene: PIK3R2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2646 PIK3R2 Zornitza Stark changed review comment from: More than 10 affected individuals reported. Some variants are recurrent.; to: More than 10 affected individuals reported. Some variants are recurrent. Seizures are part of the phenotype.
Genetic Epilepsy v0.2646 PIGC Zornitza Stark Marked gene: PIGC as ready
Genetic Epilepsy v0.2646 PIGC Zornitza Stark Gene: pigc has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2646 PIGC Zornitza Stark Phenotypes for gene: PIGC were changed from Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816 to Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816
Genetic Epilepsy v0.2645 PIGC Zornitza Stark Phenotypes for gene: PIGC were changed from to Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816
Genetic Epilepsy v0.2644 PIGC Zornitza Stark Publications for gene: PIGC were set to 27694521; 32707268
Genetic Epilepsy v0.2643 PIGC Zornitza Stark Publications for gene: PIGC were set to
Genetic Epilepsy v0.2642 PIGC Zornitza Stark Mode of inheritance for gene: PIGC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2641 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Genetic Epilepsy v0.2641 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2641 PHGDH Zornitza Stark Phenotypes for gene: PHGDH were changed from to Neu-Laxova syndrome 1, MIM# 256520; Phosphoglycerate dehydrogenase deficiency, MIM# 601815
Genetic Epilepsy v0.2640 PHGDH Zornitza Stark Publications for gene: PHGDH were set to
Genetic Epilepsy v0.2639 PHGDH Zornitza Stark Mode of inheritance for gene: PHGDH was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2638 PHGDH Zornitza Stark Mode of inheritance for gene: PHGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2637 PHGDH Zornitza Stark changed review comment from: Well established gene-disease association, severity depends on amount of residual enzyme activity.; to: Well established gene-disease association, severity depends on amount of residual enzyme activity, seizures are part of the phenotype.
Genetic Epilepsy v0.2637 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from Peroxisome biogenesis disorder 9B, MIM# 614879 to Peroxisome biogenesis disorder 9B, MIM# 614879
Genetic Epilepsy v0.2636 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Genetic Epilepsy v0.2636 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2636 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from Peroxisome biogenesis disorder 9B, MIM# 614879 to Peroxisome biogenesis disorder 9B, MIM# 614879
Genetic Epilepsy v0.2635 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from to Peroxisome biogenesis disorder 9B, MIM# 614879
Genetic Epilepsy v0.2634 PEX7 Zornitza Stark Publications for gene: PEX7 were set to
Genetic Epilepsy v0.2633 PEX7 Zornitza Stark Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2632 PEX6 Zornitza Stark Marked gene: PEX6 as ready
Genetic Epilepsy v0.2632 PEX6 Zornitza Stark Gene: pex6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2632 PEX6 Zornitza Stark Phenotypes for gene: PEX6 were changed from to Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862
Genetic Epilepsy v0.2631 PEX6 Zornitza Stark Publications for gene: PEX6 were set to
Genetic Epilepsy v0.2630 PEX6 Zornitza Stark Mode of inheritance for gene: PEX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2629 PEX5 Zornitza Stark Marked gene: PEX5 as ready
Genetic Epilepsy v0.2629 PEX5 Zornitza Stark Gene: pex5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2629 PEX5 Zornitza Stark Phenotypes for gene: PEX5 were changed from to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Peroxisome biogenesis disorder 2B, MIM# 202370
Genetic Epilepsy v0.2628 PEX5 Zornitza Stark Publications for gene: PEX5 were set to
Genetic Epilepsy v0.2627 PEX5 Zornitza Stark Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2626 PEX3 Zornitza Stark Marked gene: PEX3 as ready
Genetic Epilepsy v0.2626 PEX3 Zornitza Stark Gene: pex3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2626 PEX3 Zornitza Stark Phenotypes for gene: PEX3 were changed from to Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882; Peroxisome biogenesis disorder 10B , MIM# 617370
Genetic Epilepsy v0.2625 PEX3 Zornitza Stark Publications for gene: PEX3 were set to
Genetic Epilepsy v0.2624 PEX3 Zornitza Stark Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2623 MOCS2 Zornitza Stark Marked gene: MOCS2 as ready
Genetic Epilepsy v0.2623 MOCS2 Zornitza Stark Gene: mocs2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2623 MOCS2 Zornitza Stark Phenotypes for gene: MOCS2 were changed from to Molybdenum cofactor deficiency B MIM#252160
Genetic Epilepsy v0.2622 SGCE Zornitza Stark Marked gene: SGCE as ready
Genetic Epilepsy v0.2622 SGCE Zornitza Stark Gene: sgce has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2622 SGCE Zornitza Stark Classified gene: SGCE as Green List (high evidence)
Genetic Epilepsy v0.2622 SGCE Zornitza Stark Gene: sgce has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2621 SGCE Zornitza Stark gene: SGCE was added
gene: SGCE was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SGCE were set to 15389977; 12821748; 24297365
Phenotypes for gene: SGCE were set to Dystonia-11, myoclonic, MIM# 159900
Review for gene: SGCE was set to GREEN
Added comment: Occasional reports of epilepsy in this disorder; however, also included due to possible phenotypic overlap.
Sources: Expert list
Genetic Epilepsy v0.2620 SRD5A3 Zornitza Stark Marked gene: SRD5A3 as ready
Genetic Epilepsy v0.2620 SRD5A3 Zornitza Stark Gene: srd5a3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2620 SRD5A3 Zornitza Stark Classified gene: SRD5A3 as Amber List (moderate evidence)
Genetic Epilepsy v0.2620 SRD5A3 Zornitza Stark Gene: srd5a3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2619 SRD5A3 Zornitza Stark gene: SRD5A3 was added
gene: SRD5A3 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRD5A3 were set to 26219881
Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq, MIM# 612379
Review for gene: SRD5A3 was set to AMBER
Added comment: Many CDGs have epilepsy as a feature, and note brain abnormalities with this particular CDG,w which may be expected to contribute to the development of epilepsy. However, paucity of reports of patients with molecularly confirmed diagnosis and epilepsy.
Sources: Expert list
Genetic Epilepsy v0.2618 MAGI2 Zornitza Stark Marked gene: MAGI2 as ready
Genetic Epilepsy v0.2618 MAGI2 Zornitza Stark Gene: magi2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2618 MAGI2 Zornitza Stark gene: MAGI2 was added
gene: MAGI2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAGI2 were set to 26030165; 25497044; 31056551
Phenotypes for gene: MAGI2 were set to Monogenic epilepsy, MONDO:0015653, MAGI2-related
Review for gene: MAGI2 was set to RED
Added comment: Reported as a candidate gene for epilepsy but evidence is contradictory.
Sources: Expert list
Genetic Epilepsy v0.2617 CACNB4 Zornitza Stark Marked gene: CACNB4 as ready
Genetic Epilepsy v0.2617 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2617 CACNB4 Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence)
Genetic Epilepsy v0.2617 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2616 CACNB4 Zornitza Stark gene: CACNB4 was added
gene: CACNB4 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNB4 were set to 10762541; 35813387; 31056551; 22892567
Phenotypes for gene: CACNB4 were set to {Epilepsy, idiopathic generalized, susceptibility to, 9} 607682; {Epilepsy, juvenile myoclonic, susceptibility to, 6} 607682
Review for gene: CACNB4 was set to AMBER
Added comment: Good biological candidate but may be a susceptibility locus. Some of the variants reported have relatively high frequencies in gnomAD, and others are reported as part of large cohort studies with little supporting information regarding pathogenicity.
Sources: Expert list
Miscellaneous Metabolic Disorders v1.46 GLUL Zornitza Stark Phenotypes for gene: GLUL were changed from Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism to Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy 116, MIM# 620806
Miscellaneous Metabolic Disorders v1.45 GLUL Zornitza Stark Mode of inheritance for gene: GLUL was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.44 GLUL Zornitza Stark reviewed gene: GLUL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutamine deficiency, congenital MIM#610015, Developmental and epileptic encephalopathy 116, MIM# 620806; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5796 GLUL Zornitza Stark Phenotypes for gene: GLUL were changed from Developmental and epileptic encephalopathy, MONDO:0100062, GLUL-related; Glutamine deficiency, congenital MIM#610015 to Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy 116, MIM# 620806
Intellectual disability syndromic and non-syndromic v0.5795 GLUL Zornitza Stark edited their review of gene: GLUL: Changed phenotypes: Glutamine deficiency, congenital MIM#610015, Developmental and epileptic encephalopathy 116, MIM# 620806
Genetic Epilepsy v0.2615 GLUL Zornitza Stark Phenotypes for gene: GLUL were changed from Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy, MONDO:0100062, GLUL-related to Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy 116, MIM# 620806
Genetic Epilepsy v0.2614 GLUL Zornitza Stark edited their review of gene: GLUL: Changed phenotypes: Glutamine deficiency, congenital MIM#610015, Developmental and epileptic encephalopathy 116, MIM# 620806
Mendeliome v1.1765 GLUL Zornitza Stark Phenotypes for gene: GLUL were changed from Developmental and epileptic encephalopathy, MONDO:0100062, GLUL-related; Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism to Developmental and epileptic encephalopathy 116, MIM# 620806; Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism
Mendeliome v1.1764 GLUL Zornitza Stark edited their review of gene: GLUL: Changed phenotypes: Developmental and epileptic encephalopathy 116, MIM# 620806
Ataxia - paediatric v1.21 DAGLA Zornitza Stark Marked gene: DAGLA as ready
Ataxia - paediatric v1.21 DAGLA Zornitza Stark Gene: dagla has been classified as Green List (High Evidence).
Ataxia - paediatric v1.21 DAGLA Zornitza Stark Classified gene: DAGLA as Green List (high evidence)
Ataxia - paediatric v1.21 DAGLA Zornitza Stark Gene: dagla has been classified as Green List (High Evidence).
Ataxia - paediatric v1.20 DAGLA Zornitza Stark gene: DAGLA was added
gene: DAGLA was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: DAGLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DAGLA were set to 35737950
Phenotypes for gene: DAGLA were set to Neuroocular syndrome 2, paroxysmal type, MIM# 168885
Review for gene: DAGLA was set to GREEN
Added comment: 9 individuals from 8 families reported with daily paroxysmal spells characterized by eye deviation or nystagmus with abnormal head posturing apparent from birth or early infancy. The episodes tend to be triggered after sleeping, and most patients show improvement of the ocular symptoms over time. Affected individuals also have hypotonia, mild developmental delay, dysarthria, and gait ataxia; most have mildly impaired intellectual development. Seizures are not observed.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5795 DAGLA Zornitza Stark Marked gene: DAGLA as ready
Intellectual disability syndromic and non-syndromic v0.5795 DAGLA Zornitza Stark Gene: dagla has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5795 DAGLA Zornitza Stark Classified gene: DAGLA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5795 DAGLA Zornitza Stark Gene: dagla has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5794 DAGLA Zornitza Stark gene: DAGLA was added
gene: DAGLA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DAGLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DAGLA were set to 35737950
Phenotypes for gene: DAGLA were set to Neuroocular syndrome 2, paroxysmal type, MIM# 168885
Review for gene: DAGLA was set to GREEN
Added comment: 9 individuals from 8 families reported with daily paroxysmal spells characterized by eye deviation or nystagmus with abnormal head posturing apparent from birth or early infancy. The episodes tend to be triggered after sleeping, and most patients show improvement of the ocular symptoms over time. Affected individuals also have hypotonia, mild developmental delay, dysarthria, and gait ataxia; most have mildly impaired intellectual development. Seizures are not observed.
Sources: Literature
Mendeliome v1.1764 DAGLA Zornitza Stark Marked gene: DAGLA as ready
Mendeliome v1.1764 DAGLA Zornitza Stark Gene: dagla has been classified as Green List (High Evidence).
Mendeliome v1.1764 DAGLA Zornitza Stark Classified gene: DAGLA as Green List (high evidence)
Mendeliome v1.1764 DAGLA Zornitza Stark Gene: dagla has been classified as Green List (High Evidence).
Mendeliome v1.1763 DAGLA Zornitza Stark gene: DAGLA was added
gene: DAGLA was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DAGLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DAGLA were set to 35737950
Phenotypes for gene: DAGLA were set to Neuroocular syndrome 2, paroxysmal type, MIM# 168885
Review for gene: DAGLA was set to GREEN
Added comment: 9 individuals from 8 families reported with daily paroxysmal spells characterized by eye deviation or nystagmus with abnormal head posturing apparent from birth or early infancy. The episodes tend to be triggered after sleeping, and most patients show improvement of the ocular symptoms over time. Affected individuals also have hypotonia, mild developmental delay, dysarthria, and gait ataxia; most have mildly impaired intellectual development. Seizures are not observed.
Sources: Literature
Paroxysmal Dyskinesia v0.125 SLC2A1 Lynn Tan reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18451999, 34279792, 18577546, 34305802, 27098784; Phenotypes: GLUT1 deficiency syndrome MONDO:0000188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Paroxysmal Dyskinesia v0.125 SCN8A Lynn Tan changed review comment from: PMID: 26677014 (2016)
3 families 16 individuals, cosegregating het missense SCN8A:c.4447G>A; p.E1483K (founder effect excluded by linkage analysis). 15/16 individuals seizures in first to second year of life, 1/16 seizures at school age. 5/16 patients developed additional brief paroxysmal episodes in puberty, either dystonic/dyskinetic or "shivering" attacks, triggered by stretching or motor initiation (3 patients from 2 families), or emotional stimuli (2 patients who were both from the same family).

PMID: 29356177 (2018)
De novo SCN8A mutation c.3640G>A (p.A1214T) in 23M with PKD

PMID: 25799905 (2015)
De novo dominant SCN8A (c.3979A>G; p.Ile1327Val) in male with in utero onset of movement disorder (exaggerated startle, paroxysmal posturing and jittery movements subsiding in sleep that on clinical and encephalographic grounds were not epileptic in nature), with evolving epilepsy, epileptic encephalopathy and developmental delay; to: PMID: 26677014 (2016)
3 families 16 individuals, cosegregating het missense SCN8A:c.4447G>A; p.E1483K (founder effect excluded by linkage analysis). All patients had seizures (15/16 individuals seizures in first to second year of life, 1/16 seizures at school age). 5/16 patients developed additional brief paroxysmal episodes in puberty, either dystonic/dyskinetic or "shivering" attacks, triggered by stretching or motor initiation (3 patients from 2 families), or emotional stimuli (2 patients who were both from the same family).

PMID: 29356177 (2018)
De novo SCN8A mutation c.3640G>A (p.A1214T) in 23M with PKD

PMID: 25799905 (2015)
De novo dominant SCN8A (c.3979A>G; p.Ile1327Val) in male with in utero onset of movement disorder (exaggerated startle, paroxysmal posturing and jittery movements subsiding in sleep that on clinical and encephalographic grounds were not epileptic in nature), with evolving epilepsy, epileptic encephalopathy and developmental delay
Paroxysmal Dyskinesia v0.125 SCN8A Lynn Tan reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26677014, 29356177, 25799905; Phenotypes: Complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Monogenic Diabetes v0.74 TRMT10A Hali Van Niel reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34541035, 24204302, 25053765, 26297882, 35137278; Phenotypes: microcephaly, short stature, and impaired glucose metabolism 1 MONDO:0000208; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.74 STAT1 Hali Van Niel Deleted their comment
Monogenic Diabetes v0.74 STAT1 Hali Van Niel edited their review of gene: STAT1: Added comment: STAT1 associated with 3 types of immonodeficiencies
Immonodeficiency 31A (AD, LoF), Immonodeficiency 31B (AR, LoF) and
Immonodeficiency 31C (autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome), AD, GoF variants in STAT1

23534974: 5 patients w GOF mutation in STAT1, 3 developed type 1 diabetes mellitus
33027576: 1 patient with type 1 diabetes

Well established gene disease association, type 1 diabetes mellitus may present with disease; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.74 STAT1 Hali Van Niel reviewed gene: STAT1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 23534974, 33027576; Phenotypes: autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.74 STAT1 Hali Van Niel Deleted their review
Monogenic Diabetes v0.74 STAT1 Hali Van Niel reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23534974, 33027576; Phenotypes: autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.74 STAT3 Hali Van Niel reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25038750, 25359994, 38020118, 30825606; Phenotypes: STAT3-related early-onset multisystem autoimmune disease MONDO:0014414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.74 DMXL2 Hali Van Niel reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: None; Publications: 30237576, 31688942, 27657680, 25248098; Phenotypes: ; Mode of inheritance: Unknown
Monogenic Diabetes v0.74 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Monogenic Diabetes v0.74 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.74 POLD1 Zornitza Stark Phenotypes for gene: POLD1 were changed from Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males to mandibular hypoplasia-deafness-progeroid syndrome MONDO:0014157
Monogenic Diabetes v0.73 POLD1 Zornitza Stark Publications for gene: POLD1 were set to 23770608
Monogenic Diabetes v0.72 DCAF17 Zornitza Stark Marked gene: DCAF17 as ready
Monogenic Diabetes v0.72 DCAF17 Zornitza Stark Gene: dcaf17 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.72 DCAF17 Zornitza Stark Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness); Woodhouse-Sakati syndrome, 241080 to Woodhouse-Sakati syndrome MONDO:0009419
Monogenic Diabetes v0.71 DCAF17 Zornitza Stark Publications for gene: DCAF17 were set to 24464444; 19026396; 20507343
Monogenic Diabetes v0.70 DNAJC3 Zornitza Stark Marked gene: DNAJC3 as ready
Monogenic Diabetes v0.70 DNAJC3 Zornitza Stark Gene: dnajc3 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.70 DNAJC3 Zornitza Stark Phenotypes for gene: DNAJC3 were changed from Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration; ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 to juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0014523
Monogenic Diabetes v0.69 DNAJC3 Zornitza Stark Publications for gene: DNAJC3 were set to
Monogenic Diabetes v0.68 FOXP3 Zornitza Stark Marked gene: FOXP3 as ready
Monogenic Diabetes v0.68 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.68 FOXP3 Zornitza Stark Phenotypes for gene: FOXP3 were changed from to immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0010580
Monogenic Diabetes v0.67 FOXP3 Zornitza Stark Publications for gene: FOXP3 were set to
Monogenic Diabetes v0.66 GLIS3 Zornitza Stark Marked gene: GLIS3 as ready
Monogenic Diabetes v0.66 GLIS3 Zornitza Stark Gene: glis3 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.66 GLIS3 Zornitza Stark Phenotypes for gene: GLIS3 were changed from Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3 to neonatal diabetes mellitus with congenital hypothyroidism MONDO:0012436
Monogenic Diabetes v0.65 GLIS3 Zornitza Stark Publications for gene: GLIS3 were set to
Monogenic Diabetes v0.64 HFE Zornitza Stark Marked gene: HFE as ready
Monogenic Diabetes v0.64 HFE Zornitza Stark Gene: hfe has been classified as Green List (High Evidence).
Monogenic Diabetes v0.64 HFE Zornitza Stark Phenotypes for gene: HFE were changed from {Porphyria variegata, susceptibility to}, 176200; Hemochromatosis, 235200; {Microvascular complications of diabetes 7}, 612635; {Porphyria cutanea tarda, susceptibility to}, 176100; {Alzheimer disease, susceptibility to}, 104300 to haemochromatosis type 1 MONDO:0021001
Monogenic Diabetes v0.63 HFE Zornitza Stark Publications for gene: HFE were set to
Monogenic Diabetes v0.62 TFR2 Zornitza Stark Marked gene: TFR2 as ready
Monogenic Diabetes v0.62 TFR2 Zornitza Stark Gene: tfr2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.62 TFR2 Zornitza Stark Publications for gene: TFR2 were set to
Monogenic Diabetes v0.61 HAMP Zornitza Stark Marked gene: HAMP as ready
Monogenic Diabetes v0.61 HAMP Zornitza Stark Gene: hamp has been classified as Green List (High Evidence).
Monogenic Diabetes v0.61 HAMP Zornitza Stark Publications for gene: HAMP were set to
Monogenic Diabetes v0.60 COQ9 Zornitza Stark Marked gene: COQ9 as ready
Monogenic Diabetes v0.60 COQ9 Zornitza Stark Gene: coq9 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.60 COQ9 Zornitza Stark Phenotypes for gene: COQ9 were changed from Primary Coenzyme Q10 Deficiency; neonatal hyperglycaemia to encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0013840
Monogenic Diabetes v0.59 COQ9 Zornitza Stark Publications for gene: COQ9 were set to
Fetal anomalies v1.243 HOXD12 Zornitza Stark Marked gene: HOXD12 as ready
Fetal anomalies v1.243 HOXD12 Zornitza Stark Gene: hoxd12 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.243 HOXD12 Zornitza Stark Classified gene: HOXD12 as Amber List (moderate evidence)
Fetal anomalies v1.243 HOXD12 Zornitza Stark Gene: hoxd12 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.242 HOXD12 Zornitza Stark gene: HOXD12 was added
gene: HOXD12 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: HOXD12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXD12 were set to 38663984
Phenotypes for gene: HOXD12 were set to Clubfoot (non-syndromic) MONDO:0007342
Review for gene: HOXD12 was set to AMBER
Added comment: Identified as a candidate gene in a large cohort due to enrichment of rare variants.


PMID: 38663984
Around 9 individuals from 4 unrelated families have been reported with clubfoot and the variants were shown to segregate. Cohort of over 1000 individuals, with several novel candidates identified.

N-terminal region and C-terminal homeobox domain of HOXD12 are known to be clusters for pathogenic variants related to clubfoot.
Loss of function variants are less likely to contribute to clubfoot pathogenesis therefore mechanism of disease is suggested as dominant negative but is not confirmed.
Sources: Literature
Mendeliome v1.1762 HOXD12 Zornitza Stark Marked gene: HOXD12 as ready
Mendeliome v1.1762 HOXD12 Zornitza Stark Gene: hoxd12 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1762 HOXD12 Zornitza Stark Classified gene: HOXD12 as Amber List (moderate evidence)
Mendeliome v1.1762 HOXD12 Zornitza Stark Gene: hoxd12 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1761 HOXD12 Zornitza Stark reviewed gene: HOXD12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Clubfoot (non-syndromic) MONDO:0007342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hand and foot malformations v0.74 HOXD12 Zornitza Stark Marked gene: HOXD12 as ready
Hand and foot malformations v0.74 HOXD12 Zornitza Stark Gene: hoxd12 has been classified as Amber List (Moderate Evidence).
Hand and foot malformations v0.74 HOXD12 Zornitza Stark Classified gene: HOXD12 as Amber List (moderate evidence)
Hand and foot malformations v0.74 HOXD12 Zornitza Stark Gene: hoxd12 has been classified as Amber List (Moderate Evidence).
Hand and foot malformations v0.73 HOXD12 Zornitza Stark reviewed gene: HOXD12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Clubfoot (non-syndromic) MONDO:0007342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_Isolated v1.59 PKHD1L1 Zornitza Stark Marked gene: PKHD1L1 as ready
Deafness_Isolated v1.59 PKHD1L1 Zornitza Stark Gene: pkhd1l1 has been classified as Green List (High Evidence).
Deafness_Isolated v1.59 PKHD1L1 Zornitza Stark Classified gene: PKHD1L1 as Green List (high evidence)
Deafness_Isolated v1.59 PKHD1L1 Zornitza Stark Gene: pkhd1l1 has been classified as Green List (High Evidence).
Deafness_Isolated v1.58 PKHD1L1 Zornitza Stark gene: PKHD1L1 was added
gene: PKHD1L1 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: PKHD1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKHD1L1 were set to 38459354
Phenotypes for gene: PKHD1L1 were set to non syndromic hearing loss (MONDO:0020678)
Review for gene: PKHD1L1 was set to GREEN
Added comment: At least 4 individuals from unrelated families with sensorineural hearing loss (SNHL) (2 of the reported probands were from consanguineous parents).
The individuals are either homozygous or compound heterozygous for mutations in PKHD1L1 (missense, frameshift and nonsense mutations have been reported).

In vitro functional assessment as well as a mini-gene assay of Gly605Arg was conducted. The mini-gene assay on Gly605Arg showed that exon skipping occurs resulting in an in-frame deletion of 48 aa. Both studies didn't use a positive control however loss of function or disruption to protein stability is the speculated mechanism of disease.
Sources: Literature
Mendeliome v1.1761 PKHD1L1 Zornitza Stark Marked gene: PKHD1L1 as ready
Mendeliome v1.1761 PKHD1L1 Zornitza Stark Gene: pkhd1l1 has been classified as Green List (High Evidence).
Mendeliome v1.1761 PKHD1L1 Zornitza Stark Publications for gene: PKHD1L1 were set to
Mendeliome v1.1760 PKHD1L1 Zornitza Stark Classified gene: PKHD1L1 as Green List (high evidence)
Mendeliome v1.1760 PKHD1L1 Zornitza Stark Gene: pkhd1l1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.58 FOXC2 Hali Van Niel reviewed gene: FOXC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 15523639, 27349002, 11551504; Phenotypes: lymphedema-distichiasis syndrome MONDO:0007922; Mode of inheritance: Unknown
Monogenic Diabetes v0.58 EPHX1 Lauren Rogers Deleted their review
Lipodystrophy_Lipoatrophy v1.17 EPHX1 Ain Roesley Classified gene: EPHX1 as Green List (high evidence)
Lipodystrophy_Lipoatrophy v1.17 EPHX1 Ain Roesley Gene: ephx1 has been classified as Green List (High Evidence).
Mendeliome v1.1759 EPHX1 Ain Roesley Classified gene: EPHX1 as Green List (high evidence)
Mendeliome v1.1759 EPHX1 Ain Roesley Gene: ephx1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.58 COQ9 Hali Van Niel reviewed gene: COQ9: Rating: RED; Mode of pathogenicity: None; Publications: 19375058, 26081641, 31821167, 11562630; Phenotypes: encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0013840; Mode of inheritance: Unknown
Early-onset Dementia v1.20 TREX1 Bryony Thompson Marked gene: TREX1 as ready
Early-onset Dementia v1.20 TREX1 Bryony Thompson Gene: trex1 has been classified as Green List (High Evidence).
Early-onset Dementia v1.20 TREX1 Bryony Thompson Classified gene: TREX1 as Green List (high evidence)
Early-onset Dementia v1.20 TREX1 Bryony Thompson Gene: trex1 has been classified as Green List (High Evidence).
Early-onset Dementia v1.19 POLG Bryony Thompson Marked gene: POLG as ready
Early-onset Dementia v1.19 POLG Bryony Thompson Gene: polg has been classified as Red List (Low Evidence).
Early-onset Dementia v1.19 POLG Bryony Thompson Classified gene: POLG as Red List (low evidence)
Early-onset Dementia v1.19 POLG Bryony Thompson Gene: polg has been classified as Red List (Low Evidence).
Early-onset Dementia v1.18 COL4A2 Bryony Thompson Marked gene: COL4A2 as ready
Early-onset Dementia v1.18 COL4A2 Bryony Thompson Gene: col4a2 has been classified as Red List (Low Evidence).
Early-onset Dementia v1.18 COL4A2 Bryony Thompson Classified gene: COL4A2 as Red List (low evidence)
Early-onset Dementia v1.18 COL4A2 Bryony Thompson Gene: col4a2 has been classified as Red List (Low Evidence).
Early-onset Dementia v1.17 COL4A1 Bryony Thompson Marked gene: COL4A1 as ready
Early-onset Dementia v1.17 COL4A1 Bryony Thompson Gene: col4a1 has been classified as Green List (High Evidence).
Early-onset Dementia v1.17 COL4A1 Bryony Thompson Classified gene: COL4A1 as Green List (high evidence)
Early-onset Dementia v1.17 COL4A1 Bryony Thompson Gene: col4a1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.58 HAMP Hali Van Niel reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33861982, 12469120, 34828384, 15198949, 33016646; Phenotypes: hemochromatosis type 2B MONDO:0013220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.58 TFR2 Hali Van Niel reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802645, 12130528, 35065677, 29985876, 26029709, 24055163; Phenotypes: hemochromatosis type 3 MONDO:0011417; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.58 HFE Hali Van Niel reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: None; Publications: 8696333, 10575540, 20301613, 38560130; Phenotypes: hemochromatosis type 1 MONDO:0021001; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v1.16 EPHX1 Lauren Rogers reviewed gene: EPHX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary lipodystrophy, MONDO:0020087, EPHX1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.58 EPHX1 Lauren Rogers reviewed gene: EPHX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary lipodystrophy, MONDO:0020087, EPHX1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1758 EPHX1 Lauren Rogers reviewed gene: EPHX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary lipodystrophy, MONDO:0020087, EPHX1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.58 GLIS3 Hali Van Niel reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16715098, 21139041, 35394098; Phenotypes: neonatal diabetes mellitus with congenital hypothyroidism MONDO:0012436; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.58 FOXP3 Hali Van Niel reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11137992, 32234571, 11137993, 33614561; Phenotypes: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0010580; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Monogenic Diabetes v0.58 DNAJC3 Hali Van Niel reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33486469, 34630333, 34654017, 32738013, 29767246; Phenotypes: juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0014523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.58 DCAF17 Hali Van Niel changed review comment from: Established gene disease association for Woodhouse-Sakati syndrome (also referred to as C2ORF37 gene), diabetes mellitus common presentation is syndrome; to: Established gene disease association for Woodhouse-Sakati syndrome (also referred to as C2ORF37 gene), diabetes mellitus common presentation of syndrome
Monogenic Diabetes v0.58 DCAF17 Hali Van Niel reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 19026396, 20507343, 35002959, 34732557, 34590781; Phenotypes: Woodhouse-Sakati syndrome MONDO:0009419; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.58 POLD1 Hali Van Niel reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23770608, 33369179, 32826474, 30023403, 29199204, 28791128; Phenotypes: mandibular hypoplasia-deafness-progeroid syndrome MONDO:0014157; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.58 CISD2 Hali Van Niel reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10739754, 17846994, 25056293, 25371195, 7490992; Phenotypes: Wolfram syndrome 2 MONDO:0011502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.58 ALMS1 Hali Van Niel reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11941369, 17594715; Phenotypes: Alstrom syndrome MONDO:0008763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hand and foot malformations v0.73 HOXD12 Sangavi Sivagnanasundram gene: HOXD12 was added
gene: HOXD12 was added to Hand and foot malformations. Sources: Other
Mode of inheritance for gene: HOXD12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXD12 were set to 38663984
Phenotypes for gene: HOXD12 were set to Clubfoot (non-syndromic) MONDO:0007342
Mode of pathogenicity for gene: HOXD12 was set to Other
Review for gene: HOXD12 was set to GREEN
Added comment: Novel gene-disease association with non-syndromic clubfoot.

10 variants in HOXD12 have been reported in individuals with clubfoot (variants are predominantly missense variants however one rare deletion has been reported).

PMID: 38663984
Around 9 individuals from 4 unrelated families have been reported with clubfoot and the variants were shown to segregate.

N-terminal region and C-terminal homeobox domain of HOXD12 are known to be clusters for pathogenic variants related to clubfoot.
Loss of function variants are less likely to contribute to clubfoot pathogenesis therefore mechanism of disease is suggested as dominant negative but is not confirmed.
Sources: Other
Mendeliome v1.1758 HOXD12 Sangavi Sivagnanasundram gene: HOXD12 was added
gene: HOXD12 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: HOXD12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXD12 were set to 38663984
Phenotypes for gene: HOXD12 were set to Clubfoot (non-syndromic) MONDO:0007342
Mode of pathogenicity for gene: HOXD12 was set to Other
Review for gene: HOXD12 was set to GREEN
Added comment: Novel gene-disease association with non-syndromic clubfoot.

10 variants in HOXD12 have been reported in individuals with clubfoot (variants are predominantly missense variants however one rare deletion has been reported).

PMID: 38663984
Around 9 individuals from 4 unrelated families have been reported with clubfoot and the variants were shown to segregate.

N-terminal region and C-terminal homeobox domain of HOXD12 are known to be clusters for pathogenic variants related to clubfoot.
Loss of function variants are less likely to contribute to clubfoot pathogenesis therefore mechanism of disease is suggested as dominant negative but is not confirmed.
Sources: Other
Mendeliome v1.1758 PKHD1L1 Sangavi Sivagnanasundram edited their review of gene: PKHD1L1: Changed publications: 38459354
Genetic Epilepsy v0.2614 MBOAT7 Zornitza Stark Mode of inheritance for gene: MBOAT7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2613 MBOAT7 Zornitza Stark reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1758 PKHD1L1 Sangavi Sivagnanasundram gene: PKHD1L1 was added
gene: PKHD1L1 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: PKHD1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1L1 were set to non syndromic hearing loss (MONDO:0020678)
Review for gene: PKHD1L1 was set to GREEN
Added comment: At least 4 individuals from unrelated families with sensorineural hearing loss (SNHL) (2 of the reported probands were from consanguineous parents).
The individuals are either homozygous or compound heterozygous for mutations in PKHD1L1 (missense, frameshift and nonsense mutations have been reported).

In vitro functional assessment as well as a mini-gene assay of Gly605Arg was conducted. The mini-gene assay on Gly605Arg showed that exon skipping occurs resulting in an in-frame deletion of 48 aa. Both studies didn't use a positive control however loss of function or disruption to protein stability is the speculated mechanism of disease.
Sources: Other
Mendeliome v1.1758 RAB32 Bryony Thompson Marked gene: RAB32 as ready
Mendeliome v1.1758 RAB32 Bryony Thompson Gene: rab32 has been classified as Red List (Low Evidence).
Mendeliome v1.1758 RAB32 Bryony Thompson gene: RAB32 was added
gene: RAB32 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RAB32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB32 were set to 38614108
Phenotypes for gene: RAB32 were set to Parkinson disease MONDO:0005180
Mode of pathogenicity for gene: RAB32 was set to Other
Review for gene: RAB32 was set to RED
Added comment: A single variant in RAB32 - c.213C>G p.(Ser71Arg) with a significant association with PD (odds ratio [OR] 13.17, 95% CI 2.15-87.23; p=0.0055, 6,043 PD cases and 62,549 controls). The variant cosegregated with autosomal dominant PD in 3 families (9 affected individuals), with incomplete penetrance. In vitro studies demonstrate that RAB32 Ser71Arg activates LRRK2 kinase. The variant is reported as a novel reduced penetrance PD risk factor. The 95% CI for the OR estimate are very wide. A confirmatory study is required for this variant.
Sources: Literature
Early-onset Parkinson disease v2.1 RAB32 Bryony Thompson Marked gene: RAB32 as ready
Early-onset Parkinson disease v2.1 RAB32 Bryony Thompson Gene: rab32 has been classified as Red List (Low Evidence).
Early-onset Parkinson disease v2.1 RAB32 Bryony Thompson changed review comment from: A single variant in RAB32 - c.213C>G p.(Ser71Arg) with a significant association with PD (odds ratio [OR] 13.17, 95% CI 2.15-87.23; p=0.0055, 6,043 PD cases and 62,549 controls).
The variant cosegregated with autosomal dominant PD in 3 families (9 affected individuals), with incomplete penetrance. In vitro studies demonstrate that RAB32 Ser71Arg activates LRRK2 kinase.
Sources: Literature; to: A single variant in RAB32 - c.213C>G p.(Ser71Arg) with a significant association with PD (odds ratio [OR] 13.17, 95% CI 2.15-87.23; p=0.0055, 6,043 PD cases and 62,549 controls).
The variant cosegregated with autosomal dominant PD in 3 families (9 affected individuals), with incomplete penetrance. In vitro studies demonstrate that RAB32 Ser71Arg activates LRRK2 kinase.
The variant is reported as a novel reduced penetrance PD risk factor. The 95% CI for the OR estimate are very wide. A confirmatory study is required for this variant.
Sources: Literature
Early-onset Parkinson disease v2.1 RAB32 Bryony Thompson edited their review of gene: RAB32: Changed rating: RED
Monogenic Diabetes v0.58 HNF1B Zornitza Stark Marked gene: HNF1B as ready
Monogenic Diabetes v0.58 HNF1B Zornitza Stark Gene: hnf1b has been classified as Green List (High Evidence).
Monogenic Diabetes v0.58 HNF1B Zornitza Stark Phenotypes for gene: HNF1B were changed from RENAL CYSTS AND DIABETES SYNDROME; Maturity-Onset Diabetes Of The Young; renal malformation; Diabetes mellitus, noninsulin-dependent, 125853; Renal Cysts and Diabetes Syndrome; Renal cysts and diabetes syndrome, 137920; Transient neonatal diabetes; RCAD; {Renal cell carcinoma}, 144700 to renal cysts and diabetes syndrome MONDO:0007669
Monogenic Diabetes v0.57 HNF1B Zornitza Stark Publications for gene: HNF1B were set to
Monogenic Diabetes v0.56 HNF1B Zornitza Stark Tag SV/CNV tag was added to gene: HNF1B.
Monogenic Diabetes v0.56 AKT2 Zornitza Stark Marked gene: AKT2 as ready
Monogenic Diabetes v0.56 AKT2 Zornitza Stark Gene: akt2 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.56 AKT2 Zornitza Stark Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes to Diabetes mellitus, type II, 125853
Monogenic Diabetes v0.55 AKT2 Zornitza Stark Classified gene: AKT2 as Red List (low evidence)
Monogenic Diabetes v0.55 AKT2 Zornitza Stark Gene: akt2 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.54 KCNJ11 Zornitza Stark Phenotypes for gene: KCNJ11 were changed from Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; {Diabetes mellitus, type 2, susceptibility to}, 125853; Transient Neonatal Diabetes, Dominant; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Transient Neonatal, 3; Maturity Onset Diabetes of the Young (Dominant); Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes Mellitus, Permanent Neonatal; Diabetes mellitus, trans; Diabetes Mellitus, Transient Neonatal, 3; Diabetes mellitus, transient neonatal, 3, 610582; Maturity Onset Diabetes of the Young; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Transient Neonatal diabetes mellitus (Dominant) to permanent neonatal diabetes mellitus MONDO:0100164
Monogenic Diabetes v0.53 KCNJ11 Zornitza Stark Publications for gene: KCNJ11 were set to
Early-onset Dementia v1.16 GLA Zornitza Stark Marked gene: GLA as ready
Early-onset Dementia v1.16 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Early-onset Dementia v1.16 GLA Zornitza Stark Classified gene: GLA as Green List (high evidence)
Early-onset Dementia v1.16 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5793 CYHR1 Zornitza Stark Tag new gene name tag was added to gene: CYHR1.
Microcephaly v1.258 CYHR1 Zornitza Stark Tag new gene name tag was added to gene: CYHR1.
Mendeliome v1.1757 CYHR1 Zornitza Stark Tag new gene name tag was added to gene: CYHR1.
Early-onset Parkinson disease v2.1 RAB32 Bryony Thompson gene: RAB32 was added
gene: RAB32 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: RAB32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB32 were set to 38614108
Phenotypes for gene: RAB32 were set to Parkinson disease MONDO:0005180
Mode of pathogenicity for gene: RAB32 was set to Other
Review for gene: RAB32 was set to AMBER
Added comment: A single variant in RAB32 - c.213C>G p.(Ser71Arg) with a significant association with PD (odds ratio [OR] 13.17, 95% CI 2.15-87.23; p=0.0055, 6,043 PD cases and 62,549 controls).
The variant cosegregated with autosomal dominant PD in 3 families (9 affected individuals), with incomplete penetrance. In vitro studies demonstrate that RAB32 Ser71Arg activates LRRK2 kinase.
Sources: Literature
Mendeliome v1.1757 CCDC91 Bryony Thompson Marked gene: CCDC91 as ready
Mendeliome v1.1757 CCDC91 Bryony Thompson Gene: ccdc91 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1757 CCDC91 Bryony Thompson Classified gene: CCDC91 as Amber List (moderate evidence)
Mendeliome v1.1757 CCDC91 Bryony Thompson Gene: ccdc91 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.132 CCDC91 Bryony Thompson changed review comment from: A single 3 generation Chinese acrokeratoelastoidosis family segregates c.1101 + 1 G > A (causes exon 11 skipping). In vitro knockdown experiments in cell lines demonstrated distended Golgi cisternae, cytoplasmic vesicle accumulation, and lysosome presence.
Sources: Literature; to: A single 3-generation Chinese acrokeratoelastoidosis family segregates c.1101 + 1 G > A (causes exon 11 skipping). In vitro knockdown experiments in cell lines demonstrated distended Golgi cisternae, cytoplasmic vesicle accumulation, and lysosome presence. Immnunostaining of si-CCDC91-human skin fibroblasts cells demonstrated tropoelastin accumulation in the Golgi and abnormal extracellular aggregates.
Sources: Literature
Mendeliome v1.1756 CCDC91 Bryony Thompson gene: CCDC91 was added
gene: CCDC91 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CCDC91 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCDC91 were set to 38627542
Phenotypes for gene: CCDC91 were set to Punctate palmoplantar keratoderma type III MONDO:0007047
Review for gene: CCDC91 was set to AMBER
Added comment: A single 3-generation Chinese acrokeratoelastoidosis family segregates c.1101 + 1 G > A (causes exon 11 skipping). In vitro knockdown experiments in cell lines demonstrated distended Golgi cisternae, cytoplasmic vesicle accumulation, and lysosome presence. Immnunostaining of si-CCDC91-human skin fibroblasts cells demonstrated tropoelastin accumulation in the Golgi and abnormal extracellular aggregates
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.132 CCDC91 Bryony Thompson Marked gene: CCDC91 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.132 CCDC91 Bryony Thompson Gene: ccdc91 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.132 CCDC91 Bryony Thompson Classified gene: CCDC91 as Amber List (moderate evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.132 CCDC91 Bryony Thompson Gene: ccdc91 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.131 CCDC91 Bryony Thompson gene: CCDC91 was added
gene: CCDC91 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: CCDC91 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCDC91 were set to 38627542
Phenotypes for gene: CCDC91 were set to Punctate palmoplantar keratoderma type III MONDO:0007047
Review for gene: CCDC91 was set to AMBER
Added comment: A single 3 generation Chinese acrokeratoelastoidosis family segregates c.1101 + 1 G > A (causes exon 11 skipping). In vitro knockdown experiments in cell lines demonstrated distended Golgi cisternae, cytoplasmic vesicle accumulation, and lysosome presence.
Sources: Literature
Mendeliome v1.1755 CYHR1 Bryony Thompson Phenotypes for gene: CYHR1 were changed from Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related to Neurodevelopmental disorder, MONDO:0700092, ZTRAF1-related
Mendeliome v1.1754 CYHR1 Bryony Thompson Publications for gene: CYHR1 were set to
Intellectual disability syndromic and non-syndromic v0.5793 CYHR1 Bryony Thompson Classified gene: CYHR1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5793 CYHR1 Bryony Thompson Gene: cyhr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5792 CYHR1 Bryony Thompson reviewed gene: CYHR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38641995; Phenotypes: neurodevelopmental disorder MONDO:0700092, ZTRAF1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.258 CYHR1 Bryony Thompson reviewed gene: CYHR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 38641995; Phenotypes: neurodevelopmental disorder MONDO:0700092, ZTRAF1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1753 CYHR1 Bryony Thompson Classified gene: CYHR1 as Green List (high evidence)
Mendeliome v1.1753 CYHR1 Bryony Thompson Gene: cyhr1 has been classified as Green List (High Evidence).
Mendeliome v1.1752 CYHR1 Bryony Thompson reviewed gene: CYHR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38641995; Phenotypes: neurodevelopmental disorder MONDO:0700092, ZTRAF1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v1.15 GLA Lynn Tan gene: GLA was added
gene: GLA was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GLA were set to 36927868; 38254927; 9213072; 23949010; 32510623
Phenotypes for gene: GLA were set to Fabry disease MONDO:0010526
Review for gene: GLA was set to GREEN
gene: GLA was marked as current diagnostic
Added comment: PMID 36927868 (2023)
Index patient with GLA T410A (α-Gal A activity 32%) developed dementia and died of stroke in her 70s

PMID: 9213072 (1997)
47M biochemically confirmed Fabry’s with predominant manifestation being a dementing illness

PMID: 23949010 (2014)
Systematic review on cognitive dysfunction in Fabry's disease: patients with Fabry disease may be impaired in: executive functioning assessed by two standardised tests, the Stroop test and the Trail Making test part B, information processing speed and attention. Five case studies documenting neuropsychological impairment also described.

PMID: 32510623
Prospective cohort study to describe cognitive function changes in Fabry's over a year. Eighty‐one patients were included of which 76 patients (94%) completed both assessments (age: 44 years, 34% men, 75% classical phenotype). Four patients (5.3%) showed reliable decrease in cognitive functioning, two women and one man with classical disease and one woman with non‐classical disease (age range: 19‐41 years). Changes were from excellent to good/average and from good to average. None had a history of stroke or extensive WMLs. Follow‐up CESD scores were similar in two patients (+0 and +1) and increased in two others (+6, +11).

PMID: 38254927 (2023)
"This vasculopathy, along with elevating the risk of cerebral ischemia and stroke, is likely the pathophysiological basis for cognitive impairments in FD patients. Nevertheless, there is currently insufficient evidence indicating a direct association between neuropsychological findings and alterations in morphology in the CNS of FD patients as determined by brain imaging techniques such as magnetic resonance imaging."
Sources: Literature
Monogenic Diabetes v0.52 KCNJ11 Hali Van Niel reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30086875, 20922570, 28824061, 15115830, 23626843; Phenotypes: permanent neonatal diabetes mellitus MONDO:0100164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.52 AKT2 Hali Van Niel reviewed gene: AKT2: Rating: RED; Mode of pathogenicity: None; Publications: 37105912, 28341696, 15166380; Phenotypes: type 2 diabetes mellitus MONDO:0005148; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.52 HNF1B Hali Van Niel reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25536396, 9703339, 10484768; Phenotypes: renal cysts and diabetes syndrome MONDO:0007669; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.311 EHBP1L1 Ain Roesley Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related to non-immune hydrops fetalis MONDO:0009369, EHBP1L1-related
Fetal anomalies v1.241 EHBP1L1 Ain Roesley Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related to non-immune hydrops fetalis MONDO:0009369, EHBP1L1-related
Mendeliome v1.1752 EHBP1L1 Ain Roesley Phenotypes for gene: EHBP1L1 were changed from non-immune hydrops fetalis MONDO:0009369, EHBP1L1-related to non-immune hydrops fetalis MONDO:0009369, EHBP1L1-related
Mendeliome v1.1751 EHBP1L1 Ain Roesley Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related to non-immune hydrops fetalis MONDO:0009369, EHBP1L1-related
Early-onset Dementia v1.15 NOTCH3 Ain Roesley Mode of inheritance for gene: NOTCH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Leukodystrophy - adult onset v0.140 NOTCH3 Ain Roesley Phenotypes for gene: NOTCH3 were changed from neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310 to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310
Leukodystrophy - adult onset v0.139 NOTCH3 Ain Roesley Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310
Early-onset Dementia v1.14 NOTCH3 Ain Roesley reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Leukodystrophy - adult onset v0.138 NOTCH3 Ain Roesley Mode of inheritance for gene: NOTCH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Leukodystrophy - adult onset v0.137 NOTCH3 Ain Roesley reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder MONDO:0700092, NOTCH3-related, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Monogenic Diabetes v0.52 HNF4A Hali Van Niel reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 8945471, 11590126; Phenotypes: maturity-onset diabetes of the young type 1 MONDO:0007452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.82 NOTCH3 Ain Roesley Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310 to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310
Susceptibility to Viral Infections v0.117 IL27RA Ain Roesley Marked gene: IL27RA as ready
Susceptibility to Viral Infections v0.117 IL27RA Ain Roesley Gene: il27ra has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1750 IL27RA Ain Roesley Marked gene: IL27RA as ready
Mendeliome v1.1750 IL27RA Ain Roesley Gene: il27ra has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1750 IL27RA Ain Roesley Classified gene: IL27RA as Amber List (moderate evidence)
Mendeliome v1.1750 IL27RA Ain Roesley Gene: il27ra has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1749 IL27RA Ain Roesley gene: IL27RA was added
gene: IL27RA was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IL27RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL27RA were set to 38509369
Phenotypes for gene: IL27RA were set to Epstein-Barr virus infection MONDO:0005111 , IL27RA-related
Review for gene: IL27RA was set to AMBER
gene: IL27RA was marked as current diagnostic
Added comment: 3 children from 2 families with severe acute EBV infection.

fam1: homozygous for p.(Gln96*) (NMD-pred)
fam2: chet for p.(Arg446Gly) and c.1142-2A>C

the splice variant in fam2 was found to to result in an in-frame deletion p.(Gln381_Ala395del)
the missense in fam2 is hypothesised to be a hypomorphic allele:
- out of 15 Homs in the Finnish database, 2 had hospital diagnoses of EBV IM
- expression of this variant on its own results in a weak but detectable IL-27RA expression associated with significant increase in STAT1/3 phosphorus in response to IL-27 stimulation

borderline amber/green due to functional studies performed
Sources: Literature
Susceptibility to Viral Infections v0.117 IL27RA Ain Roesley Classified gene: IL27RA as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.117 IL27RA Ain Roesley Gene: il27ra has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.116 IL27RA Ain Roesley gene: IL27RA was added
gene: IL27RA was added to Susceptibility to Viral Infections. Sources: Literature
Mode of inheritance for gene: IL27RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL27RA were set to 38509369
Phenotypes for gene: IL27RA were set to Epstein-Barr virus infection MONDO:0005111 , IL27RA-related
Review for gene: IL27RA was set to AMBER
gene: IL27RA was marked as current diagnostic
Added comment: 3 children from 2 families with severe acute EBV infection.

fam1: homozygous for p.(Gln96*) (NMD-pred)
fam2: chet for p.(Arg446Gly) and c.1142-2A>C

the splice variant in fam2 was found to to result in an in-frame deletion p.(Gln381_Ala395del)
the missense in fam2 is hypothesised to be a hypomorphic allele:
- out of 15 Homs in the Finnish database, 2 had hospital diagnoses of EBV IM
- expression of this variant on its own results in a weak but detectable IL-27RA expression associated with significant increase in STAT1/3 phosphorus in response to IL-27 stimulation

borderline amber/green due to functional studies performed
Sources: Literature
Monogenic Diabetes v0.52 HNF1A Hali Van Niel reviewed gene: HNF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11162430, 11575290, 36257325; Phenotypes: maturity-onset diabetes of the young type 3 MONDO:0010894, diabetes mellitus MONDO:0005015; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.52 PAX6 Hali Van Niel changed review comment from: PAX6 well established gene disease association for Aniridia
No evidence of association with monogenic diabetes
PMID: 22153401: out of 83 patients with Aniridia, did not find increased incidence of diabetes beyond normal population
PMID: 11756345: one family with cosegregation of T2D and arnidia with PAX6 SNP; to: PAX6 well established gene disease association for Aniridia
No evidence of association with monogenic diabetes
PMID: 22153401: out of 83 patients with Aniridia, did not find increased incidence of diabetes beyond normal population
PMID: 11756345: one family with cosegregation of T2D and Aniridia with PAX6 SNP
Monogenic Diabetes v0.52 PAX6 Hali Van Niel reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: 22153401, 11756345; Phenotypes: aniridia MONDO:0019172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2613 NOTCH3 Ain Roesley Phenotypes for gene: NOTCH3 were changed from neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310 to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310
Genetic Epilepsy v0.2612 NOTCH3 Ain Roesley Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310 to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310
Genetic Epilepsy v0.2612 NOTCH3 Ain Roesley Mode of inheritance for gene: NOTCH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2612 NOTCH3 Ain Roesley Classified gene: NOTCH3 as Green List (high evidence)
Genetic Epilepsy v0.2612 NOTCH3 Ain Roesley Gene: notch3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2611 NOTCH3 Ain Roesley reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Vasculitis v0.81 NOTCH3 Ain Roesley Mode of inheritance for gene: NOTCH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5792 NOTCH3 Ain Roesley Phenotypes for gene: NOTCH3 were changed from neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310 to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310
Intellectual disability syndromic and non-syndromic v0.5791 NOTCH3 Ain Roesley Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310 to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310
Intellectual disability syndromic and non-syndromic v0.5791 NOTCH3 Ain Roesley Mode of inheritance for gene: NOTCH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5791 NOTCH3 Ain Roesley Classified gene: NOTCH3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5791 NOTCH3 Ain Roesley Gene: notch3 has been classified as Green List (High Evidence).
Vasculitis v0.80 NOTCH3 Ain Roesley reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder MONDO:0700092, NOTCH3-related, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.5790 NOTCH3 Ain Roesley changed review comment from: Pre-print (https://sciprofiles.com/publication/view/62eb776390415f0166f73fae7cd172ed)

Review of research and diagnostic databases and literature review found 50 individuals from 31 families with biallelic variants.

13 PTCS (including splice) and 15 missense resulting in gain or loss of Cys residue.

AR PTCs are associated with early onset leukoencephalopathy including cognitive decline, dev delay/ID and dysmorphism

AR missense are associated with CADASIL-like phenotype; to: Pre-print (https://sciprofiles.com/publication/view/62eb776390415f0166f73fae7cd172ed)

Review of research and diagnostic databases and literature review found 50 individuals from 31 families with biallelic variants.

13 PTCS (including splice) and 15 missense resulting in gain or loss of Cys residue.

AR PTCs are associated with early onset leukoencephalopathy including cognitive decline, dev delay/ID and dysmorphism; seizures, spasticity, hypotonia, ataxia

AR missense are associated with CADASIL-like phenotype
Intellectual disability syndromic and non-syndromic v0.5790 NOTCH3 Ain Roesley reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Early-onset Dementia v1.14 COL4A2 Lynn Tan edited their review of gene: COL4A2: Added comment: PMID: 35699195
The frequency of cognitive features in COL4A2 was 27% [11/41 individuals from 22 pedigrees]. These 11 patients all had developmental delay.

PMID: 37272523
Ontario Neurodegenerative Disease Research Initiative (ONDRI) sample size 510: 8 patients with COL4A1/2 variants had Alzheimer's disease/mild cognitive impairment, 3 patients with COL4A1/2 variants had frontotemporal dementia

PMID: 36300346
UK Biobank cohort study (n = 454 756): 2 patients with COL4A1/2 variants had vascular dementia, 8 patients with COL4A1/2 variants had all-cause dementia

Dev delay vs early-onset dementia
PMID: 37272523 and PMID: 36300346 -combined cohort with both COL4A1 and COL4A2

Sources: Literature; Changed rating: AMBER
Mendeliome v1.1748 SHH Ain Roesley Publications for gene: SHH were set to 21976454; 12503095; 22791840; 19057928; 19533790; 38562108; 29321670, 32703609
Mendeliome v1.1747 SHH Ain Roesley edited their review of gene: SHH: Changed publications: 38562108, 29321670, 32703609
Mendeliome v1.1747 SHH Ain Roesley Publications for gene: SHH were set to 21976454; 12503095; 22791840; 19057928; 19533790,38562108, 29321670, 32703609
Mendeliome v1.1746 SHH Ain Roesley Phenotypes for gene: SHH were changed from Holoprosencephaly 3, MIM#142945; Microphthalmia with coloboma 5, MIM#611638; Single median maxillary central incisor, MIM#147250 to Holoprosencephaly 3, MIM#142945; Microphthalmia with coloboma 5, MIM#611638; Single median maxillary central incisor, MIM#147250; Hypertelorism, ACC, intellectual disability
Mendeliome v1.1745 SHH Ain Roesley Publications for gene: SHH were set to 21976454; 12503095; 22791840; 19057928; 19533790
Mendeliome v1.1744 SHH Ain Roesley reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 38562108, 29321670, 32703609; Phenotypes: Hypertelorism, ACC, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Monogenic Diabetes v0.52 PPP1R15B Hali Van Niel reviewed gene: PPP1R15B: Rating: RED; Mode of pathogenicity: None; Publications: 26159176, 26307080, 27640355; Phenotypes: microcephaly MONDO:0001149; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v1.14 POLG Lynn Tan gene: POLG was added
gene: POLG was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLG were set to 15477547; 14694057; 16638794
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4a MONDO:0008758
Review for gene: POLG was set to AMBER
gene: POLG was marked as current diagnostic
Added comment: PMID: 15477547
5 patients with "cognitive impairment" in their 30s-50s, one male "had mild cognitive decline in the fifth decade".

PMID: 14694057
Biallelic POLG A467T variants: The 18-year-old patient is the elder son of nonconsanguineous parents, aged 45 and 41 years. The clinical features of myoclonus, seizure, axonal sensory ataxic neuropathy, and hepatotoxicity induced by valproate and mild cognitive decline and cardiomyopathy were indicative of a multisystem disorder and suggestive of mitochondrial disease.

PMID: 16638794
We studied 26 patients belonging to 20 families with a disorder caused by biallelic mutations in the POLG gene. Mild cognitive abnormalities were clinically suspected in eight patients. In four a mild cognitive impairment was confirmed by neuropsychological examination.

Cognitive impairment -developmental delay/regression/ID in childhood vs dementia (and decline from a baseline) later in life
Sources: Literature
Monogenic Diabetes v0.52 BSCL2 Hali Van Niel reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11479539, 26239609; Phenotypes: congenital generalized lipodystrophy type 2 MONDO:0010020, diabetes mellitus MONDO:0005015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.52 SLC19A2 Hali Van Niel reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10391221, 14994241, 22369132, 35114785; Phenotypes: thiamine-responsive megaloblastic anemia syndrome MONDO:0009575, neonatal diabetes mellitus MONDO:0016391, diabetes mellitus MONDO:0005015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.52 SLC29A3 Hali Van Niel reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19336477, 22238637, 38163427, 24894595; Phenotypes: H syndrome MONDO:0011273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v1.14 COL4A2 Lynn Tan gene: COL4A2 was added
gene: COL4A2 was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A2 were set to 35699195; 37272523; 36300346
Phenotypes for gene: COL4A2 were set to Familial porencephaly MONDO:0020496
Review for gene: COL4A2 was set to GREEN
gene: COL4A2 was marked as current diagnostic
Added comment: PMID: 35699195
The frequency of cognitive features in COL4A2 was 27% [11/41 individuals from 22 pedigrees]. Developmental delay was present in over 80% of individuals with COL4A1/2 with cognitive features.

PMID: 37272523
Ontario Neurodegenerative Disease Research Initiative (ONDRI) sample size 510: 8 patients with COL4A1/2 variants had Alzheimer's disease/mild cognitive impairment, 3 patients with COL4A1/2 variants had frontotemporal dementia

PMID: 36300346
UK Biobank cohort study (n = 454 756): 2 patients with COL4A1/2 variants had vascular dementia, 8 patients with COL4A1/2 variants had all-cause dementia
Sources: Literature
Monogenic Diabetes v0.52 SLC40A1 Hali Van Niel reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 34601591, 33341511, 2258529; Phenotypes: hemochromatosis type 4 MONDO:0011631, diabetes mellitus MONDO:0005015; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v1.14 COL4A1 Lynn Tan gene: COL4A1 was added
gene: COL4A1 was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A1 were set to 35699195; 37272523; 36300346; 30413629
Phenotypes for gene: COL4A1 were set to Brain small vessel disease 1 with or without ocular anomalies MONDO:0008289; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:0032814
Review for gene: COL4A1 was set to GREEN
gene: COL4A1 was marked as current diagnostic
Added comment: PMID: 35699195
Systematic review: frequency of cognitive features in COL4A1 was 33% [128/390 individuals from 233 pedigrees]. Developmental delay was present in over 80% of individuals with COL4A1/2 with cognitive features.

PMID: 37272523
Ontario Neurodegenerative Disease Research Initiative (ONDRI) sample size 510: 8 patients with COL4A1/2 variants had Alzheimer's disease/mild cognitive impairment, 3 patients with COL4A1/2 variants had frontotemporal dementia

PMID: 36300346
UK Biobank cohort study (n = 454 756): 2 patients with COL4A1/2 variants had vascular dementia, 8 patients with COL4A1/2 variants had all-cause dementia

PMID: 30413629
Child with COL4A1 p. G601S variant: developmental delay, moderate cognitive impairment, autism, and normal neurologic examination. Focal-onset drug-resistant seizures started at 11 years of age.
3-year-old girl with de novo COL4A1 p.G1239R: Surgical delivery was performed because prenatal hydrocephalus was suspected. The child developed microcephaly, severe cognitive impairment, and drug-resistant epileptic spasms.
Sources: Literature
Monogenic Diabetes v0.52 AGPAT2 Hali Van Niel reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33651552, 30296183, 35857714, 21847459; Phenotypes: diabetes mellitus MONDO:0005015, congenital generalized lipodystrophy type 1 MONDO:0012071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.240 PIP5K1C Zornitza Stark Publications for gene: PIP5K1C were set to 17701898
Fetal anomalies v1.239 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Green List (high evidence)
Fetal anomalies v1.239 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence).
Fetal anomalies v1.238 PIP5K1C Zornitza Stark reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 38491417; Phenotypes: Lethal congenital contractural syndrome 3, OMIM:611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v1.5 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v1.5 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v1.4 PIP5K1C Zornitza Stark edited their review of gene: PIP5K1C: Added comment: PMID 38491417: reported a novel variant (p.S318Ifs*28) and a different variant which has been reported in ClinVar (p.G230Qfs*114) has been identified in two foetuses with contractures and other joint abnormalities. The variants were confirmed to be in trans through parental testing.; Changed rating: GREEN; Changed publications: 17701898, 38491417
Arthrogryposis v0.409 PIP5K1C Zornitza Stark Publications for gene: PIP5K1C were set to 17701898
Arthrogryposis v0.408 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Green List (high evidence)
Arthrogryposis v0.408 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence).
Monogenic Diabetes v0.52 SLC2A2 Hali Van Niel changed review comment from: Rare presenting feature for recessive Fanconi-Bickel syndrome.
From 104 patients with neonatal diabetes, five (5%) were found to have homozygous SLC2A2 mutations (PMID: 22660720)
Three further patient with neonatal diabetes with SLC2A2 variant detected (PMID: 22060631, PMID: 23456528; 29116606); to: Rare presenting feature for recessive Fanconi-Bickel syndrome.
From 104 patients with neonatal diabetes, five (5%) were found to have homozygous SLC2A2 mutations (PMID: 22660720)
Three further patients with neonatal diabetes with SLC2A2 variant detected (PMID: 22060631, PMID: 23456528; 29116606)
Arthrogryposis v0.407 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Green List (high evidence)
Arthrogryposis v0.407 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence).
Monogenic Diabetes v0.52 SLC2A2 Hali Van Niel reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22060631, 23456528, 29116606, 22660720; Phenotypes: neonatal diabetes mellitus MONDO:0016391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Maturity-onset Diabetes of the Young v1.21 BLK Zornitza Stark Deleted their review
Maturity-onset Diabetes of the Young v1.21 BLK Zornitza Stark Marked gene: BLK as ready
Maturity-onset Diabetes of the Young v1.21 BLK Zornitza Stark Gene: blk has been classified as Red List (Low Evidence).
Maturity-onset Diabetes of the Young v1.21 BLK Zornitza Stark Phenotypes for gene: BLK were changed from Maturity Onset Diabetes of the Young; Maturity-onset diabetes of the young, type 11, 613375 to Maturity-onset diabetes of the young, type 11 MIM#613375
Maturity-onset Diabetes of the Young v1.20 BLK Zornitza Stark Publications for gene: BLK were set to
Maturity-onset Diabetes of the Young v1.19 BLK Zornitza Stark Tag refuted tag was added to gene: BLK.
Maturity-onset Diabetes of the Young v1.19 INS Zornitza Stark Phenotypes for gene: INS were changed from Maturity Onset Diabetes of the Young (Dominant); Maturity Onset Diabetes of the Young; Transient Neonatal Diabetes, Dominant/Recessive; Hyperproinsulinemia, familial, with or without diabetes to monogenic diabetes MONDO:0015967; Diabetes mellitus, insulin-dependent, 2, MIM# 125852; Diabetes mellitus, permanent neonatal 4, MIM# 618858; Maturity-onset diabetes of the young, type 10, MIM# 613370
Maturity-onset Diabetes of the Young v1.18 INS Zornitza Stark Publications for gene: INS were set to 18162506
Intellectual disability syndromic and non-syndromic v0.5790 SLC35C1 Zornitza Stark Marked gene: SLC35C1 as ready
Intellectual disability syndromic and non-syndromic v0.5790 SLC35C1 Zornitza Stark Gene: slc35c1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5790 SLC35C1 Zornitza Stark Phenotypes for gene: SLC35C1 were changed from to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953
Intellectual disability syndromic and non-syndromic v0.5789 SLC35C1 Zornitza Stark Publications for gene: SLC35C1 were set to
Intellectual disability syndromic and non-syndromic v0.5788 SLC35C1 Zornitza Stark Mode of inheritance for gene: SLC35C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.114 P3H1 Zornitza Stark Publications for gene: P3H1 were set to 17277775; 18566967