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Cerebellar and Pontocerebellar Hypoplasia v1.65 CRNKL1 Zornitza Stark Marked gene: CRNKL1 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.65 CRNKL1 Zornitza Stark Gene: crnkl1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.65 CRNKL1 Zornitza Stark Classified gene: CRNKL1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.65 CRNKL1 Zornitza Stark Gene: crnkl1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.64 CRNKL1 Mark Cleghorn gene: CRNKL1 was added
gene: CRNKL1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Other
Mode of inheritance for gene: CRNKL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRNKL1 were set to complex neurodevelopmental disorder MONDO:0100038
Review for gene: CRNKL1 was set to GREEN
Added comment: Unpublished, presented at ESHG June 2024 - Louise Bicknell, University of Otago NZ
8 unrelated families via gene matcher with rare, de novo, missense variants in CRNKL1
severe microcephaly (all, -8 to -11 SD)
ID/epilepsy
pontocerebellar hypoplasia (6/8)
simplified gyration (8/8)
7 variants are missense at p.Arg267 residue
1 variant missense at p.Arg301
RNA-seq on patient fibroblasts - no alteration in gene expression
Zebrafish homolog of Arg267 and Arg301 - mimics observed phenotype (reduced brain development), increased in embryo apoptosis
RNQ seq on affected zebrafish embryos - transcriptome strongly disrupted
Splicing analysis in progress

CRKNL1 supports U6 structure in spliceosome
Sources: Other
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
Cerebellar and Pontocerebellar Hypoplasia v1.64 FTH1 Zornitza Stark Phenotypes for gene: FTH1 were changed from Neuroferritinopathy (MONDO:0011638) to Neurodegeneration with brain iron accumulation 9, MIM# 620669
Cerebellar and Pontocerebellar Hypoplasia v1.63 FTH1 Zornitza Stark reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 9, MIM# 620669; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v1.63 MFN2 Elena Savva Classified gene: MFN2 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.63 MFN2 Elena Savva Gene: mfn2 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.62 MFN2 Elena Savva Marked gene: MFN2 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.62 MFN2 Elena Savva Gene: mfn2 has been removed from the panel.
Cerebellar and Pontocerebellar Hypoplasia v1.62 MFN2 Andrew Fennell gene: MFN2 was added
gene: MFN2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to PMID: 37804319
Phenotypes for gene: MFN2 were set to Mitochondrial disease, MONDO:0044970, MFN2-related
Review for gene: MFN2 was set to AMBER
Added comment: A single report of fetus with severe antenatal encephalopathy with lissencephaly, polymicrogyria, and cerebellar atrophy. The authors identified a homozygous in-frame deletion leading to exon 16 skipping and in-frame loss of 50 amino acids 13 (p.Gln574_Val624del). Functional evidence of mitochondrial dysfunction (clumping) and respiratory chain complex deficiencies.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.62 FTH1 Bryony Thompson Publications for gene: FTH1 were set to 36778397
Cerebellar and Pontocerebellar Hypoplasia v1.61 FTH1 Bryony Thompson Classified gene: FTH1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.61 FTH1 Bryony Thompson Added comment: Comment on list classification: Article describing the gene-disease association with neuroferritinopathy now published in HGG advances
Cerebellar and Pontocerebellar Hypoplasia v1.61 FTH1 Bryony Thompson Gene: fth1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.60 FTH1 Paul De Fazio changed review comment from: Note paper is pre-print hence Amber rating.

5 unrelated paediatric patients presented with developmental delay, epilepsy, and progressive neurologic decline. Heterozygous nonsense FTH1 variants were identified by WES in all patients, 4 of which were confirmed de novo. All variants are predicted to escape NMD and appear to act by a dominant toxic gain-of-function mechanism. p.F171* was recurrent in three unrelated individuals.

Patient fibroblasts show elevated ferritin protein levels, markers of oxidative stress, and increased susceptibility to iron accumulation. Targeted knock-down of mutant FTH1 transcript with rescues cellular phenotypes.

Note NMD-escape variants in gnomAD exist, upstream of the variants in patients.
Sources: Literature; to: Note paper is pre-print hence Amber rating.

5 unrelated paediatric patients presented with developmental delay, epilepsy, and progressive neurologic decline. All patients had pontocerebellar hypoplasia during infancy. Heterozygous nonsense FTH1 variants were identified by WES in all patients, 4 of which were confirmed de novo. All variants are predicted to escape NMD and appear to act by a dominant toxic gain-of-function mechanism. p.F171* was recurrent in three unrelated individuals.

Patient fibroblasts show elevated ferritin protein levels, markers of oxidative stress, and increased susceptibility to iron accumulation. Targeted knock-down of mutant FTH1 transcript with rescues cellular phenotypes.

Note NMD-escape variants in gnomAD exist, upstream of the variants in patients.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.60 FTH1 Seb Lunke Marked gene: FTH1 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.60 FTH1 Seb Lunke Gene: fth1 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.60 FTH1 Seb Lunke Classified gene: FTH1 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.60 FTH1 Seb Lunke Gene: fth1 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.59 FTH1 Paul De Fazio gene: FTH1 was added
gene: FTH1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FTH1 were set to 36778397
Phenotypes for gene: FTH1 were set to Neuroferritinopathy (MONDO:0011638)
Mode of pathogenicity for gene: FTH1 was set to Other
Review for gene: FTH1 was set to AMBER
gene: FTH1 was marked as current diagnostic
Added comment: Note paper is pre-print hence Amber rating.

5 unrelated paediatric patients presented with developmental delay, epilepsy, and progressive neurologic decline. Heterozygous nonsense FTH1 variants were identified by WES in all patients, 4 of which were confirmed de novo. All variants are predicted to escape NMD and appear to act by a dominant toxic gain-of-function mechanism. p.F171* was recurrent in three unrelated individuals.

Patient fibroblasts show elevated ferritin protein levels, markers of oxidative stress, and increased susceptibility to iron accumulation. Targeted knock-down of mutant FTH1 transcript with rescues cellular phenotypes.

Note NMD-escape variants in gnomAD exist, upstream of the variants in patients.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.59 CDK5 Zornitza Stark Publications for gene: CDK5 were set to 25560765
Cerebellar and Pontocerebellar Hypoplasia v1.58 CDK5 Zornitza Stark Classified gene: CDK5 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.58 CDK5 Zornitza Stark Gene: cdk5 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.57 CDK5 Zornitza Stark edited their review of gene: CDK5: Added comment: Upgraded to Amber following GenCC discrepancy resolution: single family with four affected individuals but extensive supportive experimental evidence including mouse models.; Changed rating: AMBER; Changed publications: 25560765, 32273484, 32097629, 28854363, 7490100; Changed phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342
Cerebellar and Pontocerebellar Hypoplasia v1.57 EXOSC3 Michelle Dang reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 23975261, 25149867, 24524299; Phenotypes: 24524299, 23284067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.57 Zornitza Stark List of related panels changed from to Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879
Cerebellar and Pontocerebellar Hypoplasia v1.56 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.56 BICD2 Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.56 BICD2 Zornitza Stark Classified gene: BICD2 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.56 BICD2 Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.55 BICD2 Lucy Spencer changed review comment from: Child with developmental delay, microcephaly, dysmorphic facial features, optic atrophy, lissencephaly, hypogenesis of the corpus callosum and cerebellar hypoplasia. Also short stature and underweight. Found to have a homozygous NMD predicted stop gain variant (consanguineous parents). This study reviewed previous patients and cerebellar hypoplasia seen in 3 other patients, and hypogenesis of the corpus callosum seen in 5 others but these individuals all had only 1 heterozygous variant, mostly missense.
Sources: Literature; to: Child with developmental delay, microcephaly, dysmorphic facial features, optic atrophy, lissencephaly, hypogenesis of the corpus callosum and cerebellar hypoplasia. Also short stature and underweight. Found to have a homozygous NMD predicted stop gain variant (consanguineous parents). This study reviewed previous patients and cerebellar hypoplasia seen in 3 other patients, and hypogenesis of the corpus callosum seen in 5 others but these individuals all had only 1 heterozygous variant, mostly missense. The patient in this paper appears to be a new mode of inheritance and mechanism associated with AR LOF variants (most previous variants are single heterozygous missense). This patient also appears to be the first report of lissencephaly.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.55 BICD2 Lucy Spencer gene: BICD2 was added
gene: BICD2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: BICD2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BICD2 were set to 35896821
Phenotypes for gene: BICD2 were set to Neurodevelopmental disorder, BICD2-related (MONDO#0700092)
Review for gene: BICD2 was set to GREEN
Added comment: Child with developmental delay, microcephaly, dysmorphic facial features, optic atrophy, lissencephaly, hypogenesis of the corpus callosum and cerebellar hypoplasia. Also short stature and underweight. Found to have a homozygous NMD predicted stop gain variant (consanguineous parents). This study reviewed previous patients and cerebellar hypoplasia seen in 3 other patients, and hypogenesis of the corpus callosum seen in 5 others but these individuals all had only 1 heterozygous variant, mostly missense.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.55 RELN Zornitza Stark Publications for gene: RELN were set to 27000652
Cerebellar and Pontocerebellar Hypoplasia v1.54 RELN Zornitza Stark Classified gene: RELN as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.54 RELN Zornitza Stark Gene: reln has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.53 RELN Zornitza Stark edited their review of gene: RELN: Added comment: Additional families with bi-allelic variants reported. Cerebellar hypoplasia is a feature.; Changed rating: GREEN; Changed publications: 27000652, 35769015
Cerebellar and Pontocerebellar Hypoplasia v1.53 PRDM13 Zornitza Stark Publications for gene: PRDM13 were set to PMID: 35390279
Cerebellar and Pontocerebellar Hypoplasia v1.52 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 to Pontocerebellar hypoplasia, type 17, MIM# 619909; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761
Cerebellar and Pontocerebellar Hypoplasia v1.51 PRDM13 Zornitza Stark edited their review of gene: PRDM13: Added comment: Note only single family reported with MIM#619761. The two disorders likely represent a continuum of severity.; Changed publications: 34730112; Changed phenotypes: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761, Pontocerebellar hypoplasia, type 17, MIM# 619909
Cerebellar and Pontocerebellar Hypoplasia v1.51 ATOH1 Zornitza Stark Marked gene: ATOH1 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.51 ATOH1 Zornitza Stark Gene: atoh1 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.51 ATOH1 Zornitza Stark Classified gene: ATOH1 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.51 ATOH1 Zornitza Stark Gene: atoh1 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.50 ATOH1 Chloe Stutterd gene: ATOH1 was added
gene: ATOH1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature,Expert Review
Mode of inheritance for gene: ATOH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATOH1 were set to 35518571
Phenotypes for gene: ATOH1 were set to Pontocerebellar hypoplasia MONDO:0020135, ATOH1-related
Penetrance for gene: ATOH1 were set to unknown
Review for gene: ATOH1 was set to AMBER
Added comment: Single report of novel homozygous variant in functional domain in two affected siblings with pontocerebellar hypoplasia, developmental delay and hearing loss. Similar phenotype previously reported in animal model with bi-allelic missense variant in same functional domain.
Sources: Literature, Expert Review
Cerebellar and Pontocerebellar Hypoplasia v1.50 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from Pontocerebellar hypoplasia (MONDO:0020135), PRDM13 related; Intellectual disability (MONDO:0001071) to Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761
Cerebellar and Pontocerebellar Hypoplasia v1.49 PRDM13 Zornitza Stark reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.49 PRDM13 Zornitza Stark Marked gene: PRDM13 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.49 PRDM13 Zornitza Stark Gene: prdm13 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.49 PRDM13 Zornitza Stark Classified gene: PRDM13 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.49 PRDM13 Zornitza Stark Gene: prdm13 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.48 PRDM13 Dean Phelan gene: PRDM13 was added
gene: PRDM13 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM13 were set to PMID: 35390279
Phenotypes for gene: PRDM13 were set to Pontocerebellar hypoplasia (MONDO:0020135), PRDM13 related; Intellectual disability (MONDO:0001071)
Review for gene: PRDM13 was set to GREEN
Added comment: PMID: 35390279 - Biallelic variants identified in multiple individuals from four unrelated families with pontocerebellar hypoplasia, pronounced deficits in cognitive and motor development. Homozygous PTC variants were present in the most severely affected individuals.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.48 COASY Ain Roesley Publications for gene: COASY were set to PMID: 30089828; 27021474; 24360804
Cerebellar and Pontocerebellar Hypoplasia v1.48 COASY Ain Roesley Classified gene: COASY as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.48 COASY Ain Roesley Gene: coasy has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.47 COASY Ain Roesley reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 35499143; Phenotypes: Pontocerebellar hypoplasia, type 12 MIM#618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cerebellar and Pontocerebellar Hypoplasia v1.47 ADAM22 Alison Yeung Marked gene: ADAM22 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.47 ADAM22 Alison Yeung Gene: adam22 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.47 ADAM22 Alison Yeung Classified gene: ADAM22 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.47 ADAM22 Alison Yeung Gene: adam22 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.46 ADAM22 Lucy Spencer gene: ADAM22 was added
gene: ADAM22 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAM22 were set to 35373813
Phenotypes for gene: ADAM22 were set to Developmental and epileptic encephalopathy 61 (MIM#617933)
Review for gene: ADAM22 was set to GREEN
Added comment: 19 additional patients (some related) all with compound het or homozygous ADAM22 variants. Including the previously described cases there are now 16 families with biallelic ADAM22 variants causing developmental epileptic encephalopathy. All had infantile onset epilepsy and moderate to profound global dev delay and ID. Cerebellar atrophy on MRI and hypotonia were seen in over half of the individuals.

Functional studies suggest LOF- reduced protein expression/protein retained in ER and reduced cell surface expression. Variants described are a mix of missense and PTC.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.46 MAN2C1 Zornitza Stark Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder MONDO:0700092 MAN2C1-related to Congenital disorder of deglycosylation 2, MIM# 619775
Cerebellar and Pontocerebellar Hypoplasia v1.45 MAN2C1 Zornitza Stark reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of deglycosylation 2, MIM# 619775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.45 RBL2 Alison Yeung Marked gene: RBL2 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.45 RBL2 Alison Yeung Gene: rbl2 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.45 RBL2 Alison Yeung Classified gene: RBL2 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.45 RBL2 Alison Yeung Added comment: Comment on list classification: pontocerebellar hypoplasia not a consistent feature
Cerebellar and Pontocerebellar Hypoplasia v1.45 RBL2 Alison Yeung Gene: rbl2 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.44 MAN2C1 Alison Yeung Classified gene: MAN2C1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.44 MAN2C1 Alison Yeung Gene: man2c1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.44 MAN2C1 Alison Yeung Classified gene: MAN2C1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.44 MAN2C1 Alison Yeung Gene: man2c1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.44 MAN2C1 Alison Yeung Marked gene: MAN2C1 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.44 MAN2C1 Alison Yeung Gene: man2c1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.44 MAN2C1 Alison Yeung Classified gene: MAN2C1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.44 MAN2C1 Alison Yeung Gene: man2c1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.43 MAN2C1 Michelle Torres gene: MAN2C1 was added
gene: MAN2C1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2C1 were set to 35045343
Phenotypes for gene: MAN2C1 were set to neurodevelopmental disorder MONDO:0700092 MAN2C1-related
Review for gene: MAN2C1 was set to GREEN
Added comment: Six individuals from four different families, including two fetuses, exhibiting dysmorphic facial features, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis. Variants include PTC and missense.
*3 individuals (2 families) presented hypoplasia of brainstem and/or cerebellar
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.43 RBL2 Elena Savva gene: RBL2 was added
gene: RBL2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: RBL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBL2 were set to PMID: 33980986; 32105419; 9806916
Phenotypes for gene: RBL2 were set to Severe motor and cognitive impairment; Intellectual disability; Brunet-Wagner neurodevelopmental syndrome MIM#619690
Review for gene: RBL2 was set to AMBER
Added comment: PMID: 33980986: 2 unrelated patients (3 total) with infantile hypotonia, severe developmental delay and microcephaly. Functional studies on patient fibroblasts supports loss of protein and mRNA expression. Patients were homozygous for a PTC, and a CNV (exon 4-5 del)

PMID: 32105419: affecting siblings with severe intellectual disability, stereotypies and dysmorphic features. Chet PTC/CNV (exon 13-17 del).

3 unrelated families - 2/3 corpus callosum hypoplasia/cerebral atrophy, 2/3 epilepsy, 2/3 microcephaly

PMID: 9806916: mouse model in support
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.43 TBCE Zornitza Stark Marked gene: TBCE as ready
Cerebellar and Pontocerebellar Hypoplasia v1.43 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.43 NOVA2 Zornitza Stark Marked gene: NOVA2 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.43 NOVA2 Zornitza Stark Gene: nova2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.43 Zornitza Stark removed gene:AL592103.1 from the panel
Cerebellar and Pontocerebellar Hypoplasia v1.42 KIF26B Zornitza Stark Marked gene: KIF26B as ready
Cerebellar and Pontocerebellar Hypoplasia v1.42 KIF26B Zornitza Stark Gene: kif26b has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.42 KIF26B Zornitza Stark gene: KIF26B was added
gene: KIF26B was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: KIF26B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF26B were set to 30151950
Phenotypes for gene: KIF26B were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis
Review for gene: KIF26B was set to RED
Added comment: 1 report only of infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. Whole exome sequencing on the trio identified a de novo KIF26B missense variant (p.Gly546Ser). Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity.
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v1.41 TBCE Chirag Patel Classified gene: TBCE as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.41 TBCE Chirag Patel Gene: tbce has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.40 TBCE Chirag Patel gene: TBCE was added
gene: TBCE was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCE were set to PubMed: 27666369
Phenotypes for gene: TBCE were set to Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207
Review for gene: TBCE was set to GREEN
Added comment: 5 patients from 3 unrelated Italian families with progressive encephalopathy with amyotrophy and optic atrophy (PEAMO), and biallelic variants in TCBE gene (WES or Sanger). PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.39 PIK3R5 Chirag Patel gene: PIK3R5 was added
gene: PIK3R5 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: PIK3R5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3R5 were set to PubMed: 22065524
Phenotypes for gene: PIK3R5 were set to Ataxia-oculomotor apraxia 3, OMIM #615217
Review for gene: PIK3R5 was set to RED
Added comment: Al Tassan et al. (2012) reported 4 sibs, from consanguineous Saudi Arabian family, with ataxia-oculomotor apraxia. The proband developed progressive unsteady gait and had frequent falls at age 14 years with later onset of arm dysmetria and dysarthria. He became wheelchair-bound at age 23. Ocular movement was impaired, with slowed saccadic eye movements and head-eye lag resulting in head thrust, but smooth pursuit was normal. He had severe limb and axial dysmetria with mild distal atrophy and weakness affecting the lower limbs more than the upper limbs. He also had distal sensory impairment, more prominent in the lower limbs, areflexia, and axonal sensory polyneuropathy with absent sensory nerve action potentials in the lower limbs. Laboratory studies showed increased level of alpha-fetoprotein, and brain MRI showed atrophy of the cerebellar folia and vermis. His 3 sibs were similarly affected. A homozygous mutation in the PIK3R5 gene (P629S) was found by linkage analysis followed by sequencing of the genes within the region.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.38 NOVA2 Chirag Patel Classified gene: NOVA2 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.38 NOVA2 Chirag Patel Gene: nova2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.38 NOVA2 Chirag Patel Classified gene: NOVA2 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.38 NOVA2 Chirag Patel Gene: nova2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.37 NOVA2 Chirag Patel gene: NOVA2 was added
gene: NOVA2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOVA2 were set to PMID: 32197073
Phenotypes for gene: NOVA2 were set to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859
Review for gene: NOVA2 was set to GREEN
Added comment: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism. Early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder. Additional features may include poor overall growth with small head circumference, axial hypotonia, spasticity, and seizures. Some patients have abnormal findings on brain imaging, including cerebral atrophy, cerebellar atrophy, and/or thin corpus callosum.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.36 AL592103.1 Chirag Patel gene: AL592103.1 was added
gene: AL592103.1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: AL592103.1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AL592103.1 were set to PMID: 30151950
Phenotypes for gene: AL592103.1 were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis
Review for gene: AL592103.1 was set to RED
Added comment: 1 report only of infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. Whole exome sequencing on the trio identified a de novo KIF26B missense variant (p.Gly546Ser). Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.35 BRAT1 Zornitza Stark Marked gene: BRAT1 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.35 BRAT1 Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.35 BRAT1 Zornitza Stark Publications for gene: BRAT1 were set to PMID: 26483087, 26494257, 27282546
Cerebellar and Pontocerebellar Hypoplasia v1.34 CHP1 Zornitza Stark Marked gene: CHP1 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.34 CHP1 Zornitza Stark Gene: chp1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.34 CHP1 Zornitza Stark Publications for gene: CHP1 were set to PMID: 29379881, 32787936
Cerebellar and Pontocerebellar Hypoplasia v1.33 CHP1 Chirag Patel Classified gene: CHP1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.33 CHP1 Chirag Patel Gene: chp1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.32 CHP1 Chirag Patel gene: CHP1 was added
gene: CHP1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHP1 were set to PMID: 29379881, 32787936
Phenotypes for gene: CHP1 were set to Spastic ataxia 9, autosomal recessive, OMIM #618438
Review for gene: CHP1 was set to GREEN
Added comment: 2 different consanguineous families with 2 affected siblings with ataxia (1 paediatric onset, 1 adult onset). 3 of the patients had cerebellar atrophy. WES identified homozygous variants in CHP1 gene in both families (K19del and Arg91Cys), which segregated with the disorder in the family.

Decreased CHP1 protein on IHC of cerebellar tissue in family with Arg91Cys variant. In vitro functional expression studies in HEK293 cells showed that the K19del mutation resulted in decreased protein expression, with normal levels of transcript, suggesting defects in protein stability. The mutant protein formed massive protein aggregates in transfected neuronal cell bodies and neurite-like projections, whereas the wildtype protein showed a more uniform distribution. The mutant protein altered CHP1 association into functional complexes and impaired membrane localization of the Na+/H+ transporter NHE1. The findings indicated that the CHP1 mutation likely causes ataxia in an NHE1-dependent manner, resembling the mechanism observed in the Chp1 vacillator mutant mouse.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.31 BRAT1 Chirag Patel Classified gene: BRAT1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.31 BRAT1 Chirag Patel Gene: brat1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.30 BRAT1 Chirag Patel gene: BRAT1 was added
gene: BRAT1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRAT1 were set to PMID: 26483087, 26494257, 27282546
Phenotypes for gene: BRAT1 were set to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Review for gene: BRAT1 was set to GREEN
Added comment: At least 4 individuals reported from unrelated families and bi-allelic variants in this gene.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.29 GEMIN5 Zornitza Stark Marked gene: GEMIN5 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.29 GEMIN5 Zornitza Stark Gene: gemin5 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.29 GEMIN5 Zornitza Stark Publications for gene: GEMIN5 were set to PMID: 34569062, 33963192
Cerebellar and Pontocerebellar Hypoplasia v1.28 GEMIN5 Chirag Patel Classified gene: GEMIN5 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.28 GEMIN5 Chirag Patel Gene: gemin5 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.27 GEMIN5 Chirag Patel gene: GEMIN5 was added
gene: GEMIN5 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN5 were set to PMID: 34569062, 33963192
Phenotypes for gene: GEMIN5 were set to Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM # 619333
Review for gene: GEMIN5 was set to GREEN
Added comment: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) is an autosomal recessive disorder characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity. Affected individuals have cognitive impairment and speech delay; brain imaging shows cerebellar atrophy. 30 individuals from 22 unrelated families reported by Kour et al (2021).

Saida et al (2021) report compound heterozygous GEMIN5 variants in 2 individuals with cerebellar atrophy/hypoplasia. Three novel truncating variants and one previously reported missense variant were identified. Western blotting analysis using lymphoblastoid cell lines derived from both affected individuals showed significantly reduced levels of GEMIN5 protein. Zebrafish model for null variants p.(Arg733Thrfs*6) and p.(Ala1305Leufs*14) exhibited complete lethality at 2 weeks and recapitulated a distinct dysplastic phenotype.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.26 PI4KA Zornitza Stark Publications for gene: PI4KA were set to 25855803
Cerebellar and Pontocerebellar Hypoplasia v1.25 PI4KA Zornitza Stark Classified gene: PI4KA as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.25 PI4KA Zornitza Stark Gene: pi4ka has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.24 PI4KA Paul De Fazio reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: None; Publications: 34415322; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cerebellar and Pontocerebellar Hypoplasia v1.24 AUTS2 Zornitza Stark Phenotypes for gene: AUTS2 were changed from Mental retardation, autosomal dominant 26, MIM# 615834 to Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Cerebellar and Pontocerebellar Hypoplasia v1.23 AUTS2 Zornitza Stark reviewed gene: AUTS2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834; Mode of inheritance: None
Cerebellar and Pontocerebellar Hypoplasia v1.23 HHAT Zornitza Stark Publications for gene: HHAT were set to 24784881; 30912300
Cerebellar and Pontocerebellar Hypoplasia v1.22 HHAT Zornitza Stark Classified gene: HHAT as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.22 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.21 HHAT Zornitza Stark edited their review of gene: HHAT: Added comment: Additional family reported, with severe microcephaly, skeletal dysplasia and sex reversal phenotype.; Changed rating: GREEN; Changed publications: 24784881, 30912300, 33749989
Cerebellar and Pontocerebellar Hypoplasia v1.21 TUBB3 Zornitza Stark Mode of inheritance for gene: TUBB3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v1.20 TUBB3 Zornitza Stark edited their review of gene: TUBB3: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v1.20 TUBB3 Chern Lim edited their review of gene: TUBB3: Changed phenotypes: Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039
Cerebellar and Pontocerebellar Hypoplasia v1.20 TUBB3 Chern Lim reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cerebellar and Pontocerebellar Hypoplasia v1.20 EXOSC9 Zornitza Stark Classified gene: EXOSC9 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.20 EXOSC9 Zornitza Stark Gene: exosc9 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.19 EXOSC9 Zornitza Stark reviewed gene: EXOSC9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1D 618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.19 EXOSC5 Zornitza Stark Phenotypes for gene: EXOSC5 were changed from Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576; Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia
Cerebellar and Pontocerebellar Hypoplasia v1.18 EXOSC5 Zornitza Stark edited their review of gene: EXOSC5: Changed phenotypes: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576, Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia
Cerebellar and Pontocerebellar Hypoplasia v1.18 TRIP4 Zornitza Stark Marked gene: TRIP4 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.18 TRIP4 Zornitza Stark Gene: trip4 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.18 TRIP4 Zornitza Stark Classified gene: TRIP4 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.18 TRIP4 Zornitza Stark Gene: trip4 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.17 TRIP4 Chern Lim gene: TRIP4 was added
gene: TRIP4 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP4 were set to PMID: 34075209
Phenotypes for gene: TRIP4 were set to cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures.
Review for gene: TRIP4 was set to AMBER
gene: TRIP4 was marked as current diagnostic
Added comment: PMID: 34075209:
One patient with cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures, hom PTV. The same PTV had been previously reported in 3 patients from 2 families with prenatal spinal muscular atrophy and congenital bone fractures (PMID: 26924529).
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.17 MINPP1 Zornitza Stark Phenotypes for gene: MINPP1 were changed from Pontocerebellar hypoplasia to Pontocerebellar hypoplasia, type 16, MIM# 619527
Cerebellar and Pontocerebellar Hypoplasia v1.16 MINPP1 Zornitza Stark edited their review of gene: MINPP1: Changed phenotypes: Pontocerebellar hypoplasia, type 16, MIM# 619527
Cerebellar and Pontocerebellar Hypoplasia v1.16 PCLO Zornitza Stark Phenotypes for gene: PCLO were changed from to Pontocerebellar hypoplasia, type 3, MIM#608027
Cerebellar and Pontocerebellar Hypoplasia v1.15 PCLO Zornitza Stark Publications for gene: PCLO were set to
Cerebellar and Pontocerebellar Hypoplasia v1.14 PCLO Zornitza Stark Mode of inheritance for gene: PCLO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.13 HEATR5B Seb Lunke Marked gene: HEATR5B as ready
Cerebellar and Pontocerebellar Hypoplasia v1.13 HEATR5B Seb Lunke Gene: heatr5b has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.13 HEATR5B Seb Lunke Classified gene: HEATR5B as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.13 HEATR5B Seb Lunke Gene: heatr5b has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.12 HEATR5B Seb Lunke gene: HEATR5B was added
gene: HEATR5B was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: HEATR5B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR5B were set to 33824466
Phenotypes for gene: HEATR5B were set to pontocerebellar hypoplasia; intellectual disability; seizures
Review for gene: HEATR5B was set to AMBER
Added comment: Four affected children from two families presenting with pontocerebellar hypoplasiawith neonatal seizures, severe ID and motor delay. Two homozygous splice variants were reported (c.5051–1G>A and c.5050+4A>G) in intron 31 of HEATR5B gene. Aberrant splicing was found in patient fibroblasts, which correlated with reduced levels of HEATR5B protein. Homozygous knockout mice were not viable. *NOTE: gene (and alias) not found in OMIM
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.11 DKC1 Zornitza Stark Publications for gene: DKC1 were set to PMID: 31269755; 26951492; 29081935
Cerebellar and Pontocerebellar Hypoplasia v1.10 DKC1 Michelle Torres reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25940403; Phenotypes: X-linked dyskeratosis congenita (MIM#305000), Hoyeraal-Hreidarsson Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebellar and Pontocerebellar Hypoplasia v1.10 EXOSC1 Zornitza Stark Phenotypes for gene: EXOSC1 were changed from Pontocerebellar hypoplasia to Pontocerebellar hypoplasia, type 1F, MIM# 619304
Cerebellar and Pontocerebellar Hypoplasia v1.9 EXOSC1 Zornitza Stark reviewed gene: EXOSC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1F, MIM# 619304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.9 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB (MIM#616505) to Pontocerebellar hypoplasia, type 1E, MIM# 619303
Cerebellar and Pontocerebellar Hypoplasia v1.8 SLC25A46 Zornitza Stark reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1E, MIM# 619303; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.8 CDC40 Zornitza Stark Phenotypes for gene: CDC40 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 15, MIM# 619302; microcephaly; seizures
Cerebellar and Pontocerebellar Hypoplasia v1.7 CDC40 Zornitza Stark edited their review of gene: CDC40: Changed phenotypes: Pontocerebellar hypoplasia, type 15, MIM# 619302, microcephaly, seizures
Cerebellar and Pontocerebellar Hypoplasia v1.7 PPIL1 Zornitza Stark Phenotypes for gene: PPIL1 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures
Cerebellar and Pontocerebellar Hypoplasia v1.6 PPIL1 Zornitza Stark edited their review of gene: PPIL1: Changed phenotypes: Pontocerebellar hypoplasia, type 14, MIM# 619301, microcephaly, seizures
Cerebellar and Pontocerebellar Hypoplasia v1.6 VPS4A Zornitza Stark Phenotypes for gene: VPS4A were changed from Neurodevelopmental disorder to CIMDAG syndrome MIM# 619273
Cerebellar and Pontocerebellar Hypoplasia v1.5 VPS4A Zornitza Stark reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CIMDAG syndrome MIM# 619273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v1.5 MED27 Zornitza Stark Marked gene: MED27 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.5 MED27 Zornitza Stark Gene: med27 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.5 MED27 Zornitza Stark Phenotypes for gene: MED27 were changed from Intellectual disability; cerebellar hypoplasia; dystonia to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286
Cerebellar and Pontocerebellar Hypoplasia v1.4 MED27 Zornitza Stark reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.4 EXOSC1 Zornitza Stark Marked gene: EXOSC1 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.4 EXOSC1 Zornitza Stark Gene: exosc1 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.4 EXOSC1 Chirag Patel gene: EXOSC1 was added
gene: EXOSC1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: EXOSC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC1 were set to PMID: 33463720
Phenotypes for gene: EXOSC1 were set to Pontocerebellar hypoplasia
Review for gene: EXOSC1 was set to RED
Added comment: An 8‐months‐old male with developmental delay, microcephaly, subtle dysmorphism, hypotonia, pontocerebellar hypoplasia and delayed myelination. Similarly affected elder sibling succumbed at the age of 4‐years 6‐months. Exome sequencing revealed a homozygous missense variant (c.104C >T, p.Ser35Leu) in EXOSC1. In silico mutagenesis revealed loss of a polar contact with neighbouring Leu37 residue. Quantitative real‐time PCR indicated no appreciable differences in EXOSC1 transcript levels. Immunoblotting and blue native PAGE revealed reduction in the EXOSC1 protein levels and EXO9 complex in the proband, respectively. Of note, bi‐allelic variants in other exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D, respectively.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.3 AIMP1 Zornitza Stark Marked gene: AIMP1 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.3 AIMP1 Zornitza Stark Gene: aimp1 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.3 AIMP1 Zornitza Stark gene: AIMP1 was added
gene: AIMP1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP1 were set to 30924036
Phenotypes for gene: AIMP1 were set to Pontocerebellar hypoplasia
Review for gene: AIMP1 was set to RED
Added comment: Single individual reported with homozygous frameshift variant and PCH/simplified gyral pattern.

Note bi-allelic variants in this gene are typically associated with hypomyelinating leukodystrophy/neurodegeneration.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.2 MED27 Alison Yeung Classified gene: MED27 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.2 MED27 Alison Yeung Gene: med27 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.1 MED27 Alison Yeung gene: MED27 was added
gene: MED27 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Intellectual disability; cerebellar hypoplasia; dystonia
Review for gene: MED27 was set to GREEN
gene: MED27 was marked as current diagnostic
Added comment: 16 patients from 11 families reported
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.0 Zornitza Stark promoted panel to version 1.0
Cerebellar and Pontocerebellar Hypoplasia v0.228 TUBB2B Zornitza Stark Marked gene: TUBB2B as ready
Cerebellar and Pontocerebellar Hypoplasia v0.228 TUBB2B Zornitza Stark Gene: tubb2b has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.228 TUBB2B Zornitza Stark Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
Cerebellar and Pontocerebellar Hypoplasia v0.227 TUBB2B Zornitza Stark Publications for gene: TUBB2B were set to
Cerebellar and Pontocerebellar Hypoplasia v0.226 TUBB2B Zornitza Stark Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.225 TUBB2B Zornitza Stark Classified gene: TUBB2B as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.225 TUBB2B Zornitza Stark Gene: tubb2b has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.224 TUBB2B Zornitza Stark reviewed gene: TUBB2B: Rating: AMBER; Mode of pathogenicity: None; Publications: 19465910; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.224 TSEN15 Zornitza Stark Marked gene: TSEN15 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.224 TSEN15 Zornitza Stark Gene: tsen15 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.224 TSEN15 Zornitza Stark Phenotypes for gene: TSEN15 were changed from to Pontocerebellar hypoplasia, type 2F, MIM# 617026
Cerebellar and Pontocerebellar Hypoplasia v0.223 TSEN15 Zornitza Stark Publications for gene: TSEN15 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.222 TSEN15 Zornitza Stark Mode of inheritance for gene: TSEN15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.221 TSEN15 Zornitza Stark changed review comment from: At least 3 unrelated families reported.; to: 3 unrelated families reported.
Cerebellar and Pontocerebellar Hypoplasia v0.221 TSEN15 Zornitza Stark reviewed gene: TSEN15: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 27392077; Phenotypes: Pontocerebellar hypoplasia, type 2F, MIM# 617026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.221 TUBA1A Zornitza Stark Marked gene: TUBA1A as ready
Cerebellar and Pontocerebellar Hypoplasia v0.221 TUBA1A Zornitza Stark Gene: tuba1a has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.221 TUBA1A Zornitza Stark Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, MIM# 611603
Cerebellar and Pontocerebellar Hypoplasia v0.220 TUBA1A Zornitza Stark Classified gene: TUBA1A as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.220 TUBA1A Zornitza Stark Gene: tuba1a has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.219 TUBA1A Zornitza Stark reviewed gene: TUBA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 3, MIM# 611603; Mode of inheritance: None
Cerebellar and Pontocerebellar Hypoplasia v0.219 TSEN54 Zornitza Stark Marked gene: TSEN54 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.219 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.219 TSEN54 Zornitza Stark Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 2A, MIM# 277470; Pontocerebellar hypoplasia type 4, MIM# 225753
Cerebellar and Pontocerebellar Hypoplasia v0.218 TSEN54 Zornitza Stark Publications for gene: TSEN54 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.217 TSEN54 Zornitza Stark Mode of inheritance for gene: TSEN54 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.216 TSEN54 Zornitza Stark reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: None; Publications: 18711368, 20956791, 20952379; Phenotypes: Pontocerebellar hypoplasia type 2A, MIM# 277470, Pontocerebellar hypoplasia type 4, MIM# 225753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.216 MSL3 Zornitza Stark Marked gene: MSL3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.216 MSL3 Zornitza Stark Gene: msl3 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.216 MSL3 Zornitza Stark Publications for gene: MSL3 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.215 MSL3 Zornitza Stark reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33173220; Phenotypes: ; Mode of inheritance: None
Cerebellar and Pontocerebellar Hypoplasia v0.215 MSL3 Zornitza Stark Marked gene: MSL3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.215 MSL3 Zornitza Stark Gene: msl3 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.215 MINPP1 Zornitza Stark Marked gene: MINPP1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.215 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.215 TOE1 Zornitza Stark Marked gene: TOE1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.215 TOE1 Zornitza Stark Gene: toe1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.215 TOE1 Zornitza Stark Phenotypes for gene: TOE1 were changed from to Pontocerebellar hypoplasia, type 7, MIM# 614969
Cerebellar and Pontocerebellar Hypoplasia v0.214 TOE1 Zornitza Stark Publications for gene: TOE1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.213 TOE1 Zornitza Stark Mode of inheritance for gene: TOE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.212 TOE1 Zornitza Stark reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28092684; Phenotypes: Pontocerebellar hypoplasia, type 7, MIM# 614969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.212 TUBB3 Zornitza Stark Marked gene: TUBB3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.212 TUBB3 Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.212 TUBB3 Zornitza Stark Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039
Cerebellar and Pontocerebellar Hypoplasia v0.211 TUBB3 Zornitza Stark Mode of inheritance for gene: TUBB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.210 TUBB3 Zornitza Stark reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.210 VPS53 Zornitza Stark Marked gene: VPS53 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.210 VPS53 Zornitza Stark Gene: vps53 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.210 VPS53 Zornitza Stark Phenotypes for gene: VPS53 were changed from to Pontocerebellar hypoplasia, type 2E, MIM# 615851
Cerebellar and Pontocerebellar Hypoplasia v0.209 VPS53 Zornitza Stark Publications for gene: VPS53 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.208 VPS53 Zornitza Stark Mode of inheritance for gene: VPS53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.207 VPS53 Zornitza Stark Tag founder tag was added to gene: VPS53.
Cerebellar and Pontocerebellar Hypoplasia v0.207 VPS53 Zornitza Stark reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577744, 30100179; Phenotypes: Pontocerebellar hypoplasia, type 2E, MIM# 615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.207 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.207 VRK1 Zornitza Stark Gene: vrk1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.207 VRK1 Zornitza Stark Phenotypes for gene: VRK1 were changed from to Pontocerebellar hypoplasia type 1A, MIM# 607596
Cerebellar and Pontocerebellar Hypoplasia v0.206 VRK1 Zornitza Stark Publications for gene: VRK1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.205 VRK1 Zornitza Stark Mode of inheritance for gene: VRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.204 VRK1 Zornitza Stark reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19646678, 21937992, 25609612; Phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.204 SPTBN2 Zornitza Stark Marked gene: SPTBN2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.204 SPTBN2 Zornitza Stark Gene: sptbn2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.204 SPTBN2 Zornitza Stark Phenotypes for gene: SPTBN2 were changed from to Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386
Cerebellar and Pontocerebellar Hypoplasia v0.203 SPTBN2 Zornitza Stark Publications for gene: SPTBN2 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.202 SPTBN2 Zornitza Stark Mode of inheritance for gene: SPTBN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.201 SPTBN2 Zornitza Stark reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23236289, 23838597, 22781464, 33318253; Phenotypes: Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.201 SEPSECS Zornitza Stark Marked gene: SEPSECS as ready
Cerebellar and Pontocerebellar Hypoplasia v0.201 SEPSECS Zornitza Stark Gene: sepsecs has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.201 SEPSECS Zornitza Stark Phenotypes for gene: SEPSECS were changed from to Pontocerebellar hypoplasia type 2D, MIM# 613811
Cerebellar and Pontocerebellar Hypoplasia v0.200 SEPSECS Zornitza Stark Publications for gene: SEPSECS were set to
Cerebellar and Pontocerebellar Hypoplasia v0.199 SEPSECS Zornitza Stark Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.198 SEPSECS Zornitza Stark reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20920667, 25044680, 31748115, 29464431; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM# 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.198 RELN Zornitza Stark Marked gene: RELN as ready
Cerebellar and Pontocerebellar Hypoplasia v0.198 RELN Zornitza Stark Gene: reln has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.198 RELN Zornitza Stark Phenotypes for gene: RELN were changed from to Lissencephaly 2 (Norman-Roberts type), MIM# 257320
Cerebellar and Pontocerebellar Hypoplasia v0.197 RELN Zornitza Stark Publications for gene: RELN were set to
Cerebellar and Pontocerebellar Hypoplasia v0.196 RELN Zornitza Stark Mode of inheritance for gene: RELN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.195 RELN Zornitza Stark Classified gene: RELN as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.195 RELN Zornitza Stark Gene: reln has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.194 RELN Zornitza Stark reviewed gene: RELN: Rating: RED; Mode of pathogenicity: None; Publications: 27000652; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.194 RARS2 Zornitza Stark Marked gene: RARS2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.194 RARS2 Zornitza Stark Gene: rars2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.194 RARS2 Zornitza Stark Phenotypes for gene: RARS2 were changed from to Pontocerebellar hypoplasia, type 6, MIM# 611523
Cerebellar and Pontocerebellar Hypoplasia v0.193 RARS2 Zornitza Stark Publications for gene: RARS2 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.192 RARS2 Zornitza Stark Mode of inheritance for gene: RARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.191 RARS2 Zornitza Stark reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17847012, 20635367, 25809939; Phenotypes: Pontocerebellar hypoplasia, type 6, MIM# 611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.191 KCNC3 Zornitza Stark Marked gene: KCNC3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.191 KCNC3 Zornitza Stark Gene: kcnc3 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.191 KCNC3 Zornitza Stark Phenotypes for gene: KCNC3 were changed from to Spinocerebellar ataxia 13, MIM# 605259
Cerebellar and Pontocerebellar Hypoplasia v0.190 KCNC3 Zornitza Stark Publications for gene: KCNC3 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.189 KCNC3 Zornitza Stark Mode of inheritance for gene: KCNC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.188 KCNC3 Zornitza Stark Classified gene: KCNC3 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.188 KCNC3 Zornitza Stark Gene: kcnc3 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.187 KCNC3 Zornitza Stark reviewed gene: KCNC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 16501573, 25497598, 25981959; Phenotypes: Spinocerebellar ataxia 13, MIM# 605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.187 ITPR1 Zornitza Stark Marked gene: ITPR1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.187 ITPR1 Zornitza Stark Gene: itpr1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.187 ITPR1 Zornitza Stark Phenotypes for gene: ITPR1 were changed from to Gillespie syndrome, MIM# 206700
Cerebellar and Pontocerebellar Hypoplasia v0.186 ITPR1 Zornitza Stark Publications for gene: ITPR1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.185 ITPR1 Zornitza Stark Mode of inheritance for gene: ITPR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.184 ITPR1 Zornitza Stark reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27108797, 31340402, 30242502, 29169895; Phenotypes: Gillespie syndrome, MIM# 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.184 EXOSC8 Zornitza Stark Tag founder tag was added to gene: EXOSC8.
Cerebellar and Pontocerebellar Hypoplasia v0.184 EXOSC8 Zornitza Stark Marked gene: EXOSC8 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.184 EXOSC8 Zornitza Stark Gene: exosc8 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.184 EXOSC8 Zornitza Stark Phenotypes for gene: EXOSC8 were changed from to Pontocerebellar hypoplasia, type 1C, MIM# 616081
Cerebellar and Pontocerebellar Hypoplasia v0.183 EXOSC8 Zornitza Stark Publications for gene: EXOSC8 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.182 EXOSC8 Zornitza Stark Mode of inheritance for gene: EXOSC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.181 EXOSC8 Zornitza Stark reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451; Phenotypes: Pontocerebellar hypoplasia, type 1C, MIM# 616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.181 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.181 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.181 EXOSC3 Zornitza Stark Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, MIM# 614678
Cerebellar and Pontocerebellar Hypoplasia v0.180 EXOSC3 Zornitza Stark Publications for gene: EXOSC3 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.179 EXOSC3 Zornitza Stark Mode of inheritance for gene: EXOSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.178 EXOSC3 Zornitza Stark reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 23284067, 24524299; Phenotypes: Pontocerebellar hypoplasia, type 1B, MIM# 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.178 CLP1 Zornitza Stark edited their review of gene: CLP1: Changed publications: 24766809, 29307788
Cerebellar and Pontocerebellar Hypoplasia v0.178 CLP1 Zornitza Stark edited their review of gene: CLP1: Changed publications: 29307788
Cerebellar and Pontocerebellar Hypoplasia v0.178 CLP1 Zornitza Stark Marked gene: CLP1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.178 CLP1 Zornitza Stark Gene: clp1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.178 CLP1 Zornitza Stark Publications for gene: CLP1 were set to 24766809
Cerebellar and Pontocerebellar Hypoplasia v0.177 CLP1 Zornitza Stark Phenotypes for gene: CLP1 were changed from to Pontocerebellar hypoplasia, type 10, MIM# 615803
Cerebellar and Pontocerebellar Hypoplasia v0.176 CLP1 Zornitza Stark Publications for gene: CLP1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.175 CLP1 Zornitza Stark Mode of inheritance for gene: CLP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.174 CLP1 Zornitza Stark Tag founder tag was added to gene: CLP1.
Cerebellar and Pontocerebellar Hypoplasia v0.174 CLP1 Zornitza Stark reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766809; Phenotypes: Pontocerebellar hypoplasia, type 10, MIM# 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.174 CHMP1A Zornitza Stark Marked gene: CHMP1A as ready
Cerebellar and Pontocerebellar Hypoplasia v0.174 CHMP1A Zornitza Stark Gene: chmp1a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.174 CHMP1A Zornitza Stark Phenotypes for gene: CHMP1A were changed from to Pontocerebellar hypoplasia, type 8, MIM# 614961
Cerebellar and Pontocerebellar Hypoplasia v0.173 CHMP1A Zornitza Stark Publications for gene: CHMP1A were set to
Cerebellar and Pontocerebellar Hypoplasia v0.172 CHMP1A Zornitza Stark Mode of inheritance for gene: CHMP1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.171 CHMP1A Zornitza Stark reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23023333; Phenotypes: Pontocerebellar hypoplasia, type 8, MIM# 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.171 CASK Zornitza Stark Marked gene: CASK as ready
Cerebellar and Pontocerebellar Hypoplasia v0.171 CASK Zornitza Stark Gene: cask has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.171 CASK Zornitza Stark Phenotypes for gene: CASK were changed from to Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749
Cerebellar and Pontocerebellar Hypoplasia v0.170 CASK Zornitza Stark Mode of inheritance for gene: CASK was changed from Unknown to Other
Cerebellar and Pontocerebellar Hypoplasia v0.169 CASK Zornitza Stark reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749; Mode of inheritance: Other
Cerebellar and Pontocerebellar Hypoplasia v0.169 BRF1 Zornitza Stark Marked gene: BRF1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.169 BRF1 Zornitza Stark Gene: brf1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.169 BRF1 Zornitza Stark Phenotypes for gene: BRF1 were changed from to Cerebellofaciodental syndrome, MIM# 616202
Cerebellar and Pontocerebellar Hypoplasia v0.168 BRF1 Zornitza Stark Publications for gene: BRF1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.167 BRF1 Zornitza Stark Mode of inheritance for gene: BRF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.166 BRF1 Zornitza Stark reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25561519, 25561519, 27748960; Phenotypes: Cerebellofaciodental syndrome, MIM# 616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.166 MSL3 Chirag Patel Classified gene: MSL3 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.166 MSL3 Chirag Patel Gene: msl3 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.165 MSL3 Chirag Patel gene: MSL3 was added
gene: MSL3 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: MSL3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: MSL3 were set to Basilicata-Akhtar syndrome, OMIM # 301032
Review for gene: MSL3 was set to GREEN
gene: MSL3 was marked as current diagnostic
Added comment: Well established ID gene. 2021 paper expands phenotype to include cerebellar vermis hypoplasia as a consistent MRI finding. Reported 25 individuals with syndrome in paper, but 8 patients had MRI reviewed by expert - 8/8 had cerebellar hypoplasia.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.164 CAMK2B Zornitza Stark Marked gene: CAMK2B as ready
Cerebellar and Pontocerebellar Hypoplasia v0.164 CAMK2B Zornitza Stark Gene: camk2b has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.164 CAMK2B Zornitza Stark Phenotypes for gene: CAMK2B were changed from microcephaly; intellectual disability; behavioural problems to Mental retardation, autosomal dominant 54, MIM# 617799; microcephaly; intellectual disability; behavioural problems
Cerebellar and Pontocerebellar Hypoplasia v0.163 CAMK2B Sue White Classified gene: CAMK2B as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.163 CAMK2B Sue White Gene: camk2b has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.162 CAMK2B Sue White gene: CAMK2B was added
gene: CAMK2B was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMK2B were set to 32875707
Phenotypes for gene: CAMK2B were set to microcephaly; intellectual disability; behavioural problems
Review for gene: CAMK2B was set to GREEN
Added comment: A review of published patients with CAMK2B reported 3 patients with de novo variants and cerebellar atrophy.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark Marked gene: CDC40 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark Gene: cdc40 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark changed review comment from: Single individual reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID, thrombocytopaenia, anaemia. Interaction with PPIL1 and mouse model support gene-disease association.
Sources: Literature; to: Single individual reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID, thrombocytopaenia, anaemia. Interaction with PPIL1 and mouse model support gene-disease association.

Gene referred to as PRP17 in paper.

Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark changed review comment from: Single family reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Interaction with PPIL1 and mouse model supports gene-disease association.
Sources: Literature; to: Single individual reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID, thrombocytopaenia, anaemia. Interaction with PPIL1 and mouse model support gene-disease association.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark changed review comment from: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature; to: Single family reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Interaction with PPIL1 and mouse model supports gene-disease association.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark edited their review of gene: CDC40: Changed rating: RED
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark gene: CDC40 was added
gene: CDC40 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC40 were set to 33220177
Phenotypes for gene: CDC40 were set to Pontocerebellar hypoplasia; microcephaly; seizures
Review for gene: CDC40 was set to GREEN
Added comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.160 PPIL1 Zornitza Stark Marked gene: PPIL1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.160 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.160 PPIL1 Zornitza Stark Classified gene: PPIL1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.160 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.159 PPIL1 Zornitza Stark gene: PPIL1 was added
gene: PPIL1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures
Review for gene: PPIL1 was set to GREEN
Added comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.158 VPS4A Elena Savva Added comment: Comment on mode of pathogenicity: Dominant negative
Cerebellar and Pontocerebellar Hypoplasia v0.158 VPS4A Elena Savva Mode of pathogenicity for gene: VPS4A was changed from None to Other
Cerebellar and Pontocerebellar Hypoplasia v0.158 VPS4A Elena Savva changed review comment from: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."; to: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Cerebellar and Pontocerebellar Hypoplasia v0.158 VPS4A Elena Savva Classified gene: VPS4A as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.158 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.157 VPS4A Elena Savva Marked gene: VPS4A as ready
Cerebellar and Pontocerebellar Hypoplasia v0.157 VPS4A Elena Savva Added comment: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Cerebellar and Pontocerebellar Hypoplasia v0.157 VPS4A Elena Savva Gene: vps4a has been removed from the panel.
Cerebellar and Pontocerebellar Hypoplasia v0.157 VPS4A Kristin Rigbye gene: VPS4A was added
gene: VPS4A was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to Neurodevelopmental disorder
Review for gene: VPS4A was set to GREEN
Added comment: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance).
Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly).
Demonstrated that the variants had a dominant-negative effect on VPS4A function.

"The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.157 MINPP1 Zornitza Stark Classified gene: MINPP1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.157 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.156 MINPP1 Zornitza Stark gene: MINPP1 was added
gene: MINPP1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33257696
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia
Review for gene: MINPP1 was set to GREEN
Added comment: 8 individuals from 6 unrelated families reported with bi-allelic LOF variants. All presented with almost complete absence of motor and cognitive development, progressive or congenital microcephaly, spastic tetraplegia or dystonia, and vision impairments. For most, the first symptoms included neonatal severe axial hypotonia and epilepsy that started during the first months or years of life. Prenatal symptoms of microcephaly associated with increased thalami echogenicity were detected in one, while the seven other individuals presented with progressive microcephaly. Some exhibited rapidly progressive phenotype and the affected children died in their infancy or middle-childhood. Strikingly, all the affected children had a unique brain MRI showing a mild to severe PCH, fluid-filled posterior fossa, with dilated lateral ventricles. In addition, severe atrophy at the level of the basal ganglia or thalami often associated with typical T2 hypersignal were identified in all the patients MRI.

Supportive functional data showing accumulation of highly phosphorylated inositols, mostly inositol hexakisphosphate (IP6), detected in HEK293 cells, fibroblasts, iPSCs and differentiating neurons lacking MINPP1. In mutant cells, higher IP6 level is expected to be associated with an increased chelation of intracellular cations, such as iron or calcium, resulting in decreased levels of available ions.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.155 HHAT Zornitza Stark Marked gene: HHAT as ready
Cerebellar and Pontocerebellar Hypoplasia v0.155 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.155 HHAT Zornitza Stark Classified gene: HHAT as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.155 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.154 HHAT Zornitza Stark gene: HHAT was added
gene: HHAT was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 24784881; 30912300
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092
Review for gene: HHAT was set to AMBER
Added comment: Two unrelated families reported. Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.153 KAT5 Zornitza Stark Phenotypes for gene: KAT5 were changed from Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face to Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face
Cerebellar and Pontocerebellar Hypoplasia v0.152 KAT5 Zornitza Stark Deleted their comment
Cerebellar and Pontocerebellar Hypoplasia v0.152 KAT5 Zornitza Stark edited their review of gene: KAT5: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103, Severe global developmental delay, Intellectual disability, Seizures, Microcephaly, Behavioral abnormality, Sleep disturbance, Morphological abnormality of the central nervous system, Short stature, Oral cleft, Abnormality of the face
Cerebellar and Pontocerebellar Hypoplasia v0.152 AUTS2 Zornitza Stark Publications for gene: AUTS2 were set to 17211639; 27075013; 22872102
Cerebellar and Pontocerebellar Hypoplasia v0.151 AUTS2 Zornitza Stark Classified gene: AUTS2 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.151 AUTS2 Zornitza Stark Gene: auts2 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.150 AUTS2 Elena Savva edited their review of gene: AUTS2: Added comment: aka KIAA0442

PMID: 17211639 - 5 patients (4 families) with translocation rearrangements resulting in truncated AUTS2. 1/5 patients has a hypoplastic brain stem, 2/5 (both twins) show cerebral atrophy. Remaining 2/5 patients did not have an MRI. All patients were <18 years old.

PMID: 27075013 - describes 13 patients with CNVs in the AUTS2 gene. Report "An MRI was done in eight patients. None had structural brain malformations except for a stable arachnoidal cyst in one."

PMID: 22872102 - describes 4 patients with CNVs in AUTS2. Only 2/4 had an MRI, both regarded as "normal", patients were aged 10 and 3 yo.

PMID: 31474318 - 4 patients with de novo inframe deletions, frameshift and missense variants. Patients are from a cohort with either Dandy-Walker malformations or cerebellar hypoplasia; Changed publications: PMID: 17211639, 27075013, 22872102, 31474318
Cerebellar and Pontocerebellar Hypoplasia v0.150 EXOSC5 Zornitza Stark Phenotypes for gene: EXOSC5 were changed from Developmental delays, short stature, cerebellar hypoplasia and motor weakness to Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia
Cerebellar and Pontocerebellar Hypoplasia v0.149 EXOSC5 Zornitza Stark Classified gene: EXOSC5 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.149 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.148 EXOSC5 Zornitza Stark Deleted their comment
Cerebellar and Pontocerebellar Hypoplasia v0.148 EXOSC5 Zornitza Stark edited their review of gene: EXOSC5: Added comment: - PMID: 32504085 (2020) - Five patients from four families with biallelic variants in EXOSC5. Clinical features included short stature (3/5), developmental delays that affect motor skills (3/5), hypotonia (4/5), ataxia (3/4), cerebellar hypoplasia/atrophy (4/5). Cognitive function was generally preserved, but included mild speech delays in one patient.
Cerebellar ataxia was described in two sibs and one singleton - all of whom were compound heterozygous for the p.Thr114Ile variant, inherited in trans with a frameshift variant (p.His30Thrfs*35) or deletion involving exons 5–6 of EXOSC5, respectively.

A LoF zebrafish model resulted in a variety of morphological defects including shortened and curved tails/bodies, reduced eye/head size and oedema. Functional studies of the variants in budding yeast and cultured cells showed some defects in RNA exosome function and interactions, that could not be explained by decrease in the steady-state level of EXOSC5.

- PMID: 29302074 (2019) - Three sibs with a homozygous EXOSC5 variant (p.Thr114Ile), associated with mild motor delays, cerebellar ataxia, nystagmus, dysarthria, and moderate ID. The family is also described in PMID: 30950035. No functional studies of the variant were undertaken.; Changed rating: GREEN; Changed publications: 32504085, 29302074; Changed phenotypes: Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.148 TSEN2 Zornitza Stark Marked gene: TSEN2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.148 TSEN2 Zornitza Stark Gene: tsen2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.148 TSEN2 Zornitza Stark Phenotypes for gene: TSEN2 were changed from to Pontocerebellar hypoplasia type 2B, MIM# 612389
Cerebellar and Pontocerebellar Hypoplasia v0.147 TSEN2 Zornitza Stark Publications for gene: TSEN2 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.146 TSEN2 Zornitza Stark Mode of inheritance for gene: TSEN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.145 TSEN2 Zornitza Stark reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23562994, 20952379; Phenotypes: Pontocerebellar hypoplasia type 2B, MIM# 612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.145 KAT5 Zornitza Stark Phenotypes for gene: KAT5 were changed from to Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face
Cerebellar and Pontocerebellar Hypoplasia v0.144 KAT5 Zornitza Stark Publications for gene: KAT5 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.143 KAT5 Zornitza Stark Mode of pathogenicity for gene: KAT5 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
Cerebellar and Pontocerebellar Hypoplasia v0.142 KAT5 Zornitza Stark Mode of inheritance for gene: KAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.141 KAT5 Zornitza Stark Classified gene: KAT5 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.141 KAT5 Zornitza Stark Gene: kat5 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.140 KAT5 Zornitza Stark edited their review of gene: KAT5: Added comment: Cerebellar atrophy reported in 2 of 3 individuals.; Changed rating: AMBER; 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; Changed publications: 32822602; Changed phenotypes: Severe global developmental delay, Intellectual disability, Seizures, Microcephaly, Behavioral abnormality, Sleep disturbance, Morphological abnormality of the central nervous system, Short stature, Oral cleft, Abnormality of the face; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.140 TOE1 Crystle Lee reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28092684; Phenotypes: Pontocerebellar hypoplasia, type 7 (MIM#614969); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.140 COASY Zornitza Stark Classified gene: COASY as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.140 COASY Zornitza Stark Gene: coasy has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.139 VLDLR Zornitza Stark edited their review of gene: VLDLR: Added comment: VLDLR guides neuroblast migration in the cerebral cortex and cerebellum (PMID: 16080122).

PMID: 16080122 - Whole gene homozygous deletion affecting 8 patients in 3 related Hutterite families. The deletion extended in neighbouring LOC401491 (no known function)
Patients displayed symptoms including delayed ambulation, truncal ataxia, strabismus and pes planus in the majority of patients, seizures in 40% of patients, and short stature in 15% of patients. Magnetic resonance imaging (MRI) demonstrates inferior cerebellar hypoplasia and mild cortical gyral simplification.

PMID: 18326629 - Two families with homozygous PTCs. Patients had impaired cerebrocerebellar function including cerebrocerebellar hypoplasia, vermial hypoplasia, and gait.

PMID: 10380922 - Mouse models are neurologically normal. Knockout mice show malformation of neuronal layers, Purkinje cell assemble incorrectly, there are inverted cortical layers

Summary: 3 independant families + animal studies; Changed publications: 16080122, 18326629, 10380922
Cerebellar and Pontocerebellar Hypoplasia v0.139 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Cerebellar and Pontocerebellar Hypoplasia v0.137 FKRP Zornitza Stark Marked gene: FKRP as ready
Cerebellar and Pontocerebellar Hypoplasia v0.137 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.137 FKRP Zornitza Stark Classified gene: FKRP as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.137 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.136 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.136 POMT2 Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.136 POMT2 Zornitza Stark Classified gene: POMT2 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.136 POMT2 Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.135 ROBO3 Zornitza Stark Marked gene: ROBO3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.135 ROBO3 Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.135 ROBO3 Zornitza Stark Classified gene: ROBO3 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.135 ROBO3 Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.134 FKTN Zornitza Stark Marked gene: FKTN as ready
Cerebellar and Pontocerebellar Hypoplasia v0.134 FKTN Zornitza Stark Added comment: Comment when marking as ready: Agree, structural brain abnormalities are a feature of more severe FKTN-associated disease, though PCH/cerebellar hypoplasia not prominent (more unusual abnormalities like cerebellar polymicrogyria described).
Cerebellar and Pontocerebellar Hypoplasia v0.134 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.134 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from Cardiomyopathy, dilated, 1X 611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Walker-Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Walker-Warburg syndrome
Cerebellar and Pontocerebellar Hypoplasia v0.133 FKTN Zornitza Stark Classified gene: FKTN as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.133 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.132 GMPPB Zornitza Stark Marked gene: GMPPB as ready
Cerebellar and Pontocerebellar Hypoplasia v0.132 GMPPB Zornitza Stark Gene: gmppb has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.132 GMPPB Zornitza Stark Classified gene: GMPPB as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.132 GMPPB Zornitza Stark Gene: gmppb has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.131 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.131 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.131 POMT1 Zornitza Stark Classified gene: POMT1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.131 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.130 ISPD Zornitza Stark Marked gene: ISPD as ready
Cerebellar and Pontocerebellar Hypoplasia v0.130 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.130 ISPD Zornitza Stark Classified gene: ISPD as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.130 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.129 KIAA1109 Zornitza Stark Marked gene: KIAA1109 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.129 KIAA1109 Zornitza Stark Gene: kiaa1109 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.129 KIAA1109 Zornitza Stark Phenotypes for gene: KIAA1109 were changed from to Alkuraya-Kucinskas syndrome, MIM# 617822
Cerebellar and Pontocerebellar Hypoplasia v0.128 KIAA1109 Zornitza Stark Publications for gene: KIAA1109 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.127 KIAA1109 Zornitza Stark Mode of inheritance for gene: KIAA1109 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.126 POMGNT2 Zornitza Stark Marked gene: POMGNT2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.126 POMGNT2 Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.126 POMGNT2 Zornitza Stark Classified gene: POMGNT2 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.126 POMGNT2 Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.125 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.125 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.125 POMGNT1 Zornitza Stark Classified gene: POMGNT1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.125 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.124 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.124 LARGE1 Zornitza Stark Gene: large1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.124 LARGE1 Zornitza Stark Publications for gene: LARGE1 were set to PMID: 17878207; 19067344; PMID: 24709677
Cerebellar and Pontocerebellar Hypoplasia v0.123 LARGE1 Zornitza Stark Classified gene: LARGE1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.123 LARGE1 Zornitza Stark Gene: large1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.122 LARGE1 Zornitza Stark Tag SV/CNV tag was added to gene: LARGE1.
Cerebellar and Pontocerebellar Hypoplasia v0.122 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.122 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.122 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.122 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.121 GPAA1 Zornitza Stark Marked gene: GPAA1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.121 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.121 GPAA1 Zornitza Stark Phenotypes for gene: GPAA1 were changed from to Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810
Cerebellar and Pontocerebellar Hypoplasia v0.120 GPAA1 Zornitza Stark Publications for gene: GPAA1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.119 GPAA1 Zornitza Stark Mode of inheritance for gene: GPAA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.118 PPP1CB Zornitza Stark Marked gene: PPP1CB as ready
Cerebellar and Pontocerebellar Hypoplasia v0.118 PPP1CB Zornitza Stark Gene: ppp1cb has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.118 PPP1CB Zornitza Stark Phenotypes for gene: PPP1CB were changed from to Noonan syndrome-like disorder with loose anagen hair 2 (MIM#617506)
Cerebellar and Pontocerebellar Hypoplasia v0.117 PPP1CB Zornitza Stark Publications for gene: PPP1CB were set to
Cerebellar and Pontocerebellar Hypoplasia v0.116 PPP1CB Zornitza Stark Mode of inheritance for gene: PPP1CB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.115 PPP1CB Zornitza Stark Classified gene: PPP1CB as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.115 PPP1CB Zornitza Stark Gene: ppp1cb has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.114 PPP1CB Zornitza Stark reviewed gene: PPP1CB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome-like disorder with loose anagen hair 2 (MIM#617506); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.114 FOXP1 Zornitza Stark Marked gene: FOXP1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.114 FOXP1 Zornitza Stark Added comment: Comment when marking as ready: Agree, appears a rare manifestation of this syndrome.
Cerebellar and Pontocerebellar Hypoplasia v0.114 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.114 FOXP1 Zornitza Stark Classified gene: FOXP1 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.114 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.113 MACF1 Crystle Lee gene: MACF1 was added
gene: MACF1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation (MIM#618325)
Mode of pathogenicity for gene: MACF1 was set to Other
Review for gene: MACF1 was set to GREEN
Added comment: Pontine/Vermis hypoplasia reported in multiple patients with de novo missense variants within the GAR domain

PMID: 30471716; Dobyns 2018: Reported 3 different missense in 7 patients. All reported with brainsteam/cerebellum hypoplasia (Pontine hypoplasia/ Vermis hypoplasia). Postulated to exert Gain of function or dominant negative mechanism

Green in PanelApp UK list
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.113 LARGE1 Elena Savva gene: LARGE1 was added
gene: LARGE1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARGE1 were set to PMID: 17878207; 19067344; PMID: 24709677
Phenotypes for gene: LARGE1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; Walker Warburg syndrome
Added comment: Gross deletions and rearrangements are commonly reported for this gene (PMID: 24709677)

PMID: 17878207 - single reported patient with WWS had cerebellar hypoplasia, died in infancy. Patient had a heterozygous PTC.

PMID: 19067344 - 2 chet patients (missense/PTC) had congenital muscular dystrophy. Patients were both reported with hypoplastic pontine abnormality, one also had a dysplastic vermis. A third patient is reported but this is the same as ^.

PMID: 24709677 - 4 patients.
1/4 mild pontine hyoplasia and inferior vermis hypoplasia, 1/4 very small pons, hypoplastic brainstem and cerebellar cysts, 1/4 small pons, 1/4 hypoplastic pons.
3/4 were diagnosed with WWS, 1/4 with Fukuyama Congenital Muscular Dystrophy
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.113 POMGNT1 Crystle Lee gene: POMGNT1 was added
gene: POMGNT1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT1 were set to 19067344
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 (MIM#253280)
Review for gene: POMGNT1 was set to GREEN
Added comment: Cerebellar hypoplasia is a feature of Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 (OMIM)

PMID: 19067344; Clement 2008: Reported 7 patients, all showed either cerebellar or pontine hypoplasia and cerebellar cysts
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.113 POMGNT2 Crystle Lee gene: POMGNT2 was added
gene: POMGNT2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT2 were set to 22958903; 27066570
Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 (MIM#614830)
Review for gene: POMGNT2 was set to GREEN
Added comment: POMGNT2 (also known as GTDC2). Associated phenotype also referred to as Walker-Warburg syndrome.

PMID: 22958903; Manzini 2012: 3 different hom variants in 3 consang. families, all reported with cerebellar hypoplasia. (2 nonsense and 1 missense). "knockdown in zebrafish showed all WWS features (hydrocephalus, ocular defects, and muscular dystrophy)"

PMID: 27066570; Endo 2015: reported 3 hom/chet missense with no cerebellar hypoplasia. Missense variants showed to reduced activity, which likely explains the milder phenotype.

Green in PanelApp UK list.
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.113 KIAA1109 Elena Savva reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29290337, 30906834; Phenotypes: Alkuraya-Kucinskas syndrome 617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.113 ISPD Elena Savva gene: ISPD was added
gene: ISPD was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISPD were set to PMID: 22522421; 22522420
Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052; Walker–Warburg syndrome
Review for gene: ISPD was set to GREEN
Added comment: PMID: 22522421 - 11 patients with severe WWS, only two survived beyond 2 years of age. "Routine cerebral MRI
showed typical features of cobblestone lissencephaly together with hydrocephalus, cerebellar hypoplasia and a kinked brainstem".
10/11 patients either had chet mutations (missense, PTC) or homozygous PTCs/exon deletions, and diagnosed with either WSS or MEB. A single patient was homozygous for a missense. 10/11 reported specifically with "cerebellar abnormalities", no specific numbers for cerebellar hypoplasia.

PMID: 22522420 - single patient with WWS, chet for exon deletions/PTC. MRI taken at 5 months of age shows hypoplastic brainstem and cerebellar vermis.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.113 GPAA1 Elena Savva reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29100095, 31353022; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.113 POMT1 Crystle Lee gene: POMT1 was added
gene: POMT1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT1 were set to 24491487; 31311558
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (MIM#236670); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 (MIM#613155)
Review for gene: POMT1 was set to GREEN
Added comment: Cerebellar hypoplasia is a feature of Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 (previously Walker-Warburg syndrome) and type B1 (OMIM)

PMID: 24491487; Wallace 2015: Reports 3 patients and reviews variability of clinical outcomes associated with a single frameshift variant (ie h chet missense/fs associated with less severe phenotype).

PMID: 31311558; Geis 2019: Multiple WWS families reported. Cerebellar hypoplasia is a consistent feature.
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.113 GMPPB Elena Savva reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30257713, 30684953, 23768512; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.113 GMPPB Elena Savva Deleted their review
Cerebellar and Pontocerebellar Hypoplasia v0.113 GMPPB Elena Savva gene: GMPPB was added
gene: GMPPB was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GMPPB were set to PMID: 30257713; 30684953; 23768512
Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352
Added comment: Decipher: Patient: 363842 is described with abnormality of the cerebellar vermis

PMID: 30257713 - 3/6 patients with MRIs has mild cerebellar hypoplasia. Patients were all chet with mostly two missense in trans, or a missense/PTC. All patients with hypoplasia were diagnosed with congenital muscular dystrophy with cerebellar involvement (CRB). Age at examination unknown, patients range from 20 months - 74 years old).

PMID: 30684953 - patient with Limb-girdle muscular dystrophy, MRI was normal. Patient had chet missense.

PMID: 23768512 - 3/7 patients had cerebellar/pontine hypoplasia. Patients were diagnosed with MEB, muscle-eye-brain disease or CRB.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.113 POMT2 Crystle Lee gene: POMT2 was added
gene: POMT2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT2 were set to 15894594; 17634419
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 (MIM#613150); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 (MIM#613156)
Review for gene: POMT2 was set to GREEN
Added comment: Cerebellar hypoplasia is a feature of Muscular dystrophy-dystroglycanopathy type A2 (previously Walker-Warburg syndrome) and B2 (OMIM). Severity of phenotype likely correlates with amount of residual activity.

PMID: 15894594; van Reeuwijk 2005: Reported LoF type variants in 3 families. Cerebellar hypoplasia reported in 2 patients.

PMID: 17634419; Yanagisawa 2007: Cerebellar vermis hypoplasis was a feature all 4 patients reported. (Hom missense and chet missense/nonsense)
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.113 FOXP1 Elena Savva reviewed gene: FOXP1: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 29090079, 28735298; Phenotypes: Mental retardation with language impairment and with or without autistic features 613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebellar and Pontocerebellar Hypoplasia v0.113 PPP1CB Crystle Lee reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: None; Publications: 27264673, 28211982, 30236064; Phenotypes: Noonan syndrome-like disorder with loose anagen hair 2 (MIM#617506); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebellar and Pontocerebellar Hypoplasia v0.113 FKTN Elena Savva gene: FKTN was added
gene: FKTN was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKTN were set to PMID: 17878207; 25821721; 19342235; 18177472; 12601708
Phenotypes for gene: FKTN were set to Cardiomyopathy, dilated, 1X 611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Walker-Warburg syndrome
Review for gene: FKTN was set to AMBER
Added comment: PMID: 17878207 - 1/6 unrelated families had cerebellar hypoplasia, patient was homozygous for a PTC, had Walker-Warburg syndrome (WWS)

PMID: 25821721 - 1 patient with muscular dystrophy, had a normal MRI and two chet missense.

PMID: 19342235 - 2 siblings chet for two missense, do not report any cognitive issues. No MRI, were diagnosed with Limb-Girdle Muscular Dystrophy Without Mental Retardation

PMID: 18177472 - Two patients with WWS, one died soon after birth and was chet for a missense and 3' UTR deletion. This patient only had an MRI showing severe brain malformation but no mention of cerebellar hypoplasia. The second patient was homozygous for a PTC.

PMID: 12601708 - 1 patient with WWS and a homozygous PTC. Patient was an infant and tomography showed cortical atrophy

Summary: Cerebellar hypoplasia may be a feature exclusive to severe WWS, which requires two null/near-null alleles. Need more reports to make it GREEN
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.113 ROBO3 Crystle Lee gene: ROBO3 was added
gene: ROBO3 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROBO3 were set to 15105459
Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM#607313)
Review for gene: ROBO3 was set to GREEN
Added comment: Pontine hypoplasia is a feature of the associated phenotype.

PMID: 15105459; Jen 2004: Reported hom variants in 10 patients.
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.113 FKRP Elena Savva gene: FKRP was added
gene: FKRP was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKRP were set to PMID: 16476814; 21293871; 20236121
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155; Walker–Warburg syndrome
Review for gene: FKRP was set to GREEN
Added comment: PMID: 16476814 - Pons/cerebellar hypoplasia reported in 3/13 patients with MRI results (aged 22 months - 11 years), additional 4/13 had cerebellar cysts. One patient had MED, the other WWS (Walker-Warburg syndrome)
Describes other papers where patients had vermis hypoplasia.

PMID: 21293871 - 2/9 patients with MRI scan had cerebellar atrophy (aged 65, 69 years old), patients had limb-girdle muscular dystrophy 2I

PMID: 20236121 - 2 homozygous siblings with Walker–Warburg syndrome. Postnatal MRI of one sibling shows cerbellar vermis and cortex hypoplasia

Summary: Uncommon feature but reported in >3 patients, more commonly with Walker-Warburg syndrome patients
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.113 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Cerebellar and Pontocerebellar Hypoplasia v0.113 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.113 ATAD3A Zornitza Stark Classified gene: ATAD3A as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.113 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.112 ATAD3A Zornitza Stark gene: ATAD3A was added
gene: ATAD3A was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
SV/CNV tags were added to gene: ATAD3A.
Mode of inheritance for gene: ATAD3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 28549128
Phenotypes for gene: ATAD3A were set to Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810
Review for gene: ATAD3A was set to GREEN
Added comment: Four unrelated families reported with deletions that generate chimeric ATAD3B/ATAD3A fusion genes and fatal congenital pontocerebellar hypoplasia. One family with genomic rearrangements affecting the ATAD3C/ATAD3B genes on one allele and ATAD3B/ATAD3A genes on the other displayed later-onset encephalopathy with cerebellar atrophy, ataxia and dystonia.
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.111 AMPD2 Zornitza Stark Marked gene: AMPD2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.111 AMPD2 Zornitza Stark Gene: ampd2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.111 AMPD2 Zornitza Stark Phenotypes for gene: AMPD2 were changed from to Pontocerebellar hypoplasia, type 9, MIM# 615809
Cerebellar and Pontocerebellar Hypoplasia v0.110 AMPD2 Zornitza Stark Publications for gene: AMPD2 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.109 AMPD2 Zornitza Stark Mode of inheritance for gene: AMPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.108 AMPD2 Zornitza Stark commented on gene: AMPD2: At least six families reported.
Cerebellar and Pontocerebellar Hypoplasia v0.108 AMPD2 Zornitza Stark reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23911318, 27066553; Phenotypes: Pontocerebellar hypoplasia, type 9, MIM# 615809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.108 PTF1A Zornitza Stark Marked gene: PTF1A as ready
Cerebellar and Pontocerebellar Hypoplasia v0.108 PTF1A Zornitza Stark Gene: ptf1a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.108 PTF1A Zornitza Stark Classified gene: PTF1A as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.108 PTF1A Zornitza Stark Gene: ptf1a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.107 PTF1A Zornitza Stark gene: PTF1A was added
gene: PTF1A was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTF1A were set to 21749365; 10507728; 15543146; 19650412
Phenotypes for gene: PTF1A were set to Pancreatic and cerebellar agenesis, MIM# 609069
Review for gene: PTF1A was set to GREEN
Added comment: At least three unrelated families reported.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.106 MAST1 Zornitza Stark Marked gene: MAST1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.106 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.106 MAST1 Zornitza Stark Classified gene: MAST1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.106 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.105 MAST1 Zornitza Stark gene: MAST1 was added
gene: MAST1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to 30449657
Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273
Review for gene: MAST1 was set to GREEN
Added comment: Six unrelated individuals with de novo variants in this gene and a mouse model.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.104 PI4KA Zornitza Stark Marked gene: PI4KA as ready
Cerebellar and Pontocerebellar Hypoplasia v0.104 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.104 PI4KA Zornitza Stark Classified gene: PI4KA as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.104 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.103 PI4KA Zornitza Stark gene: PI4KA was added
gene: PI4KA was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 25855803
Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531
Review for gene: PI4KA was set to AMBER
Added comment: Single family reported, aware of at least one other yet to be published family identified internally.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.102 CDK5 Zornitza Stark changed review comment from: Single consanguineous family with multiple affected individuals reported, lishencephaly prominent.
Sources: Expert list; to: Single consanguineous family with multiple affected individuals reported, lissencephaly prominent.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.102 CDK5 Zornitza Stark Marked gene: CDK5 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.102 CDK5 Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.102 CDK5 Zornitza Stark gene: CDK5 was added
gene: CDK5 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5 were set to 25560765
Phenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342
Review for gene: CDK5 was set to RED
Added comment: Single consanguineous family with multiple affected individuals reported, lishencephaly prominent.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.101 OXR1 Zornitza Stark Marked gene: OXR1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.101 OXR1 Zornitza Stark Gene: oxr1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.101 OXR1 Zornitza Stark Classified gene: OXR1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.101 OXR1 Zornitza Stark Gene: oxr1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.100 OXR1 Zornitza Stark gene: OXR1 was added
gene: OXR1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to 31785787
Phenotypes for gene: OXR1 were set to Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, MIM# 213000
Review for gene: OXR1 was set to GREEN
Added comment: 5 individuals from 3 unrelated families reported with bi-allelic variants in this gene. Presentation was in early childhood with hypotonia, global developmental delay, delayed walking at about age 3 years, and severely impaired intellectual development with profound speech delay or even absent language. All also developed epilepsy between 7 and 10 years of age, but the seizures were controlled by medication in most. Subtle nonspecific dysmorphic features included poor overall growth, large forehead, tall face, mild hypertelorism, joint hyperlaxity, and long fingers and toes. Brain imaging in all 5 individuals showed cerebellar atrophy and dysplasia. Additional cerebellar features, such as tremor, ataxia, and nystagmus, were not noted in these individuals.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.99 OPHN1 Zornitza Stark Marked gene: OPHN1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.99 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.99 OPHN1 Zornitza Stark Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM# 300486
Cerebellar and Pontocerebellar Hypoplasia v0.98 OPHN1 Zornitza Stark Publications for gene: OPHN1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.97 OPHN1 Zornitza Stark Mode of inheritance for gene: OPHN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebellar and Pontocerebellar Hypoplasia v0.96 OPHN1 Zornitza Stark reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20528889, 9582072, 12807966, 16221952; Phenotypes: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM# 300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebellar and Pontocerebellar Hypoplasia v0.96 VPS51 Zornitza Stark Marked gene: VPS51 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.96 VPS51 Zornitza Stark Gene: vps51 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.96 VPS51 Zornitza Stark Classified gene: VPS51 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.96 VPS51 Zornitza Stark Gene: vps51 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.95 VPS51 Zornitza Stark gene: VPS51 was added
gene: VPS51 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS51 were set to 30624672; 31207318
Phenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM# 618606
Review for gene: VPS51 was set to AMBER
Added comment: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.94 VLDLR Zornitza Stark Marked gene: VLDLR as ready
Cerebellar and Pontocerebellar Hypoplasia v0.94 VLDLR Zornitza Stark Gene: vldlr has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.94 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050
Cerebellar and Pontocerebellar Hypoplasia v0.93 VLDLR Zornitza Stark Publications for gene: VLDLR were set to
Cerebellar and Pontocerebellar Hypoplasia v0.92 VLDLR Zornitza Stark Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.91 VLDLR Zornitza Stark reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16080122, 18326629; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.91 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.91 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.91 UFM1 Zornitza Stark Phenotypes for gene: UFM1 were changed from to Leukodystrophy, hypomyelinating, 14, MIM# 617899
Cerebellar and Pontocerebellar Hypoplasia v0.90 UFM1 Zornitza Stark Publications for gene: UFM1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.89 UFM1 Zornitza Stark Mode of inheritance for gene: UFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.88 TERT Zornitza Stark Marked gene: TERT as ready
Cerebellar and Pontocerebellar Hypoplasia v0.88 TERT Zornitza Stark Gene: tert has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.88 TERT Zornitza Stark Classified gene: TERT as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.88 TERT Zornitza Stark Gene: tert has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.87 EXOSC9 Zornitza Stark Marked gene: EXOSC9 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.87 EXOSC9 Zornitza Stark Gene: exosc9 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.87 EXOSC9 Zornitza Stark Phenotypes for gene: EXOSC9 were changed from to Pontocerebellar hypoplasia, type 1D 618065
Cerebellar and Pontocerebellar Hypoplasia v0.86 EXOSC9 Zornitza Stark Publications for gene: EXOSC9 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.85 EXOSC9 Zornitza Stark Mode of inheritance for gene: EXOSC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.84 EXOSC9 Zornitza Stark Classified gene: EXOSC9 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.84 EXOSC9 Zornitza Stark Gene: exosc9 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.83 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.83 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.83 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from to Neuropathy, hereditary motor and sensory, type VIB (MIM#616505)
Cerebellar and Pontocerebellar Hypoplasia v0.82 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.81 SLC25A46 Zornitza Stark Mode of inheritance for gene: SLC25A46 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.80 SETD2 Zornitza Stark Marked gene: SETD2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.80 SETD2 Zornitza Stark Gene: setd2 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.80 SETD2 Zornitza Stark Phenotypes for gene: SETD2 were changed from to Luscan-Lumish syndrome (MIM#616831)
Cerebellar and Pontocerebellar Hypoplasia v0.79 SETD2 Zornitza Stark Publications for gene: SETD2 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.78 SETD2 Zornitza Stark Mode of inheritance for gene: SETD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.77 SETD2 Zornitza Stark Classified gene: SETD2 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.77 SETD2 Zornitza Stark Gene: setd2 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.76 RAB11B Zornitza Stark Marked gene: RAB11B as ready
Cerebellar and Pontocerebellar Hypoplasia v0.76 RAB11B Zornitza Stark Gene: rab11b has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.76 RAB11B Zornitza Stark Phenotypes for gene: RAB11B were changed from to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807)
Cerebellar and Pontocerebellar Hypoplasia v0.75 RAB11B Zornitza Stark Publications for gene: RAB11B were set to
Cerebellar and Pontocerebellar Hypoplasia v0.74 RAB11B Zornitza Stark Mode of inheritance for gene: RAB11B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.73 RAB11B Zornitza Stark Classified gene: RAB11B as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.73 RAB11B Zornitza Stark Gene: rab11b has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.72 PUS3 Zornitza Stark Marked gene: PUS3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.72 PUS3 Zornitza Stark Gene: pus3 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.72 PUS3 Zornitza Stark Phenotypes for gene: PUS3 were changed from to Mental retardation, autosomal recessive 55 (MIM#617051)
Cerebellar and Pontocerebellar Hypoplasia v0.71 PUS3 Zornitza Stark Publications for gene: PUS3 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.70 PUS3 Zornitza Stark Mode of inheritance for gene: PUS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.69 PUS3 Zornitza Stark Classified gene: PUS3 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.69 PUS3 Zornitza Stark Gene: pus3 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.68 PUS3 Crystle Lee reviewed gene: PUS3: Rating: RED; Mode of pathogenicity: None; Publications: 27055666, 30308082, 30697592, 31444731; Phenotypes: Mental retardation, autosomal recessive 55 (MIM#617051); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.68 RAB11B Crystle Lee reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: None; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebellar and Pontocerebellar Hypoplasia v0.68 SETD2 Crystle Lee reviewed gene: SETD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31643139, 31474318, 26084711; Phenotypes: Luscan-Lumish syndrome (MIM#616831); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebellar and Pontocerebellar Hypoplasia v0.68 SLC25A46 Crystle Lee reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: 27543974, 28637197, 28376086, 26168012; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB (MIM#616505); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.68 EXOSC9 Elena Savva reviewed gene: EXOSC9: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29727687, 30690203; Phenotypes: Pontocerebellar hypoplasia, type 1D 618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.68 EXOSC5 Zornitza Stark Marked gene: EXOSC5 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.68 EXOSC5 Zornitza Stark Added comment: Comment when marking as ready: Pre-print
Cerebellar and Pontocerebellar Hypoplasia v0.68 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.68 EXOSC5 Zornitza Stark Phenotypes for gene: EXOSC5 were changed from to Developmental delays, short stature, cerebellar hypoplasia and motor weakness
Cerebellar and Pontocerebellar Hypoplasia v0.67 EXOSC5 Zornitza Stark Publications for gene: EXOSC5 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.66 EXOSC5 Zornitza Stark Mode of inheritance for gene: EXOSC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.65 EXOSC5 Zornitza Stark Classified gene: EXOSC5 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.65 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.64 SMPD4 Zornitza Stark Marked gene: SMPD4 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.64 SMPD4 Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.64 SMPD4 Zornitza Stark Classified gene: SMPD4 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.64 SMPD4 Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.63 DDX3X Zornitza Stark Marked gene: DDX3X as ready
Cerebellar and Pontocerebellar Hypoplasia v0.63 DDX3X Zornitza Stark Gene: ddx3x has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.63 DDX3X Zornitza Stark Phenotypes for gene: DDX3X were changed from to Mental retardation, X-linked 102, MIM# 300958
Cerebellar and Pontocerebellar Hypoplasia v0.62 DDX3X Zornitza Stark Publications for gene: DDX3X were set to
Cerebellar and Pontocerebellar Hypoplasia v0.61 EXOSC5 Elena Savva changed review comment from: No phenotype association in OMIM, emerging gene with a single paper

3 patients reported: one patient with cerebellar hypoplasia, another with reduced cerebellar vermis; to: No phenotype association in OMIM, emerging gene with a single paper

3 patients reported: one patient with cerebellar hypoplasia, another with reduced cerebellar vermis

Summary: 2/3 patients have cerebellar/vermis hypoplasia
Cerebellar and Pontocerebellar Hypoplasia v0.61 EXOSC5 Elena Savva reviewed gene: EXOSC5: Rating: AMBER; Mode of pathogenicity: None; Publications: doi: https://doi.org/10.1101/2020.04.01.839274; Phenotypes: Developmental delays, short stature, cerebellar hypoplasia and motor weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.61 DDX3X Zornitza Stark Mode of inheritance for gene: DDX3X was changed from Unknown to Other
Cerebellar and Pontocerebellar Hypoplasia v0.60 DDX3X Zornitza Stark Classified gene: DDX3X as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.60 DDX3X Zornitza Stark Gene: ddx3x has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.59 DDX3X Zornitza Stark reviewed gene: DDX3X: Rating: AMBER; Mode of pathogenicity: None; Publications: 30936465; Phenotypes: Mental retardation, X-linked 102, MIM# 300958; Mode of inheritance: Other
Cerebellar and Pontocerebellar Hypoplasia v0.59 SNX14 Zornitza Stark reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.59 SNX14 Zornitza Stark Marked gene: SNX14 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.59 SNX14 Zornitza Stark Gene: snx14 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.59 SNX14 Zornitza Stark Classified gene: SNX14 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.59 SNX14 Zornitza Stark Gene: snx14 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.58 TBCK Zornitza Stark Marked gene: TBCK as ready
Cerebellar and Pontocerebellar Hypoplasia v0.58 TBCK Zornitza Stark Added comment: Comment when marking as ready: Agree, uncertain about whether reported findings truly reflect cerebellar/pontocerebellar hypoplasia.
Cerebellar and Pontocerebellar Hypoplasia v0.58 TBCK Zornitza Stark Gene: tbck has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.58 TBCK Zornitza Stark Marked gene: TBCK as ready
Cerebellar and Pontocerebellar Hypoplasia v0.58 TBCK Zornitza Stark Gene: tbck has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.58 TBCK Zornitza Stark Phenotypes for gene: TBCK were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (MIM#616900)
Cerebellar and Pontocerebellar Hypoplasia v0.57 TBCK Zornitza Stark Publications for gene: TBCK were set to
Cerebellar and Pontocerebellar Hypoplasia v0.56 TBCK Zornitza Stark Mode of inheritance for gene: TBCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.55 TBCK Zornitza Stark Classified gene: TBCK as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.55 TBCK Zornitza Stark Gene: tbck has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.54 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.54 DKC1 Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.54 DKC1 Zornitza Stark Classified gene: DKC1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.54 DKC1 Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.53 DKC1 Elena Savva gene: DKC1 was added
gene: DKC1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DKC1 were set to PMID: 31269755; 26951492; 29081935
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome
Review for gene: DKC1 was set to GREEN
Added comment: OMIM - Cerebellar ataxia (seen in HHS variant), Cerebellar hypoplasia (seen in HHS variant)
Hoyeraal-Hreidarsson Syndrome is the severe form of Dyskeratosis congenita

PMID: 31269755 - 1 child with cerebellar hypoplasia, a hemizygous missense and Hoyeraal–Hreidarsson Syndrome*

PMID: 26951492 - 1 child with pontocerebellar hypoplasia, a hemizygous missense and Hoyeraal–Hreidarsson Syndrome*

PMID: 29081935 - 1 family (2 first cousins) with the same variant. One has DC, the other HHS and cerebellar hypoplasia*

PMID: 24914498 - 1 baby (3 months old) with a missense in exon 3 and Hoyeraal-Hreidarsson syndrome and cerebellar atrophy.

*All missense found close together in exon 11

Summary: is a common feature of severe Hoyeraal-Hreidarsson syndrome
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.53 SMPD4 Crystle Lee gene: SMPD4 was added
gene: SMPD4 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPD4 were set to 31495489
Phenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (MIM#618622)
Review for gene: SMPD4 was set to GREEN
Added comment: Cerebellar hypoplasia is a feature of the associated OMIM phenotype.

Magini 2019: Reported 23 patients from 12 unrelated families. Cerebellar hypoplasia was one of the main features.
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.53 DDX3X Elena Savva reviewed gene: DDX3X: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26235985, 30936465; Phenotypes: Mental retardation, X-linked 102 300958; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebellar and Pontocerebellar Hypoplasia v0.53 SNX14 Crystle Lee gene: SNX14 was added
gene: SNX14 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX14 were set to 25439728; 24501761; 25848753
Phenotypes for gene: SNX14 were set to Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354)
Review for gene: SNX14 was set to AMBER
Added comment: Not sure if cerebellar hypoplasia or atrophy. Appears to be mostly atrophy but early onset.

Green in PanelApp UK: "Unclear if predominantly cerebellar atrophy/hypoplasia. Childhood presentation reported" 2016

Thomas 2014: 7 affected individuals from 3 unrelated consanguineous families. Appears to be predominantly cerebellar atrophy, 4 of which were progressive.

Sousa 2014: Reported cerebellar hypotrophy in 2 sisters (>15 years old). Noted as cerebellar hypoplasia in OMIM.

Akizu 2015: 12 families with cerebellar atrophy. Childhood-onset recessive cerebellar atrophy with ataxia (supp data indicates all <5 years old)
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.53 TBCK Crystle Lee edited their review of gene: TBCK: Changed publications: 27040692, 30103036, 27040691
Cerebellar and Pontocerebellar Hypoplasia v0.53 TBCK Crystle Lee reviewed gene: TBCK: Rating: AMBER; Mode of pathogenicity: None; Publications: 27040692; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (MIM#616900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.53 TERT Crystle Lee gene: TERT was added
gene: TERT was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TERT were set to 17785587
Phenotypes for gene: TERT were set to Autosomal Recessive Dyskeratosis Congenita 4 (MIM#613989)
Review for gene: TERT was set to AMBER
Added comment: 1 patient reported with cerebellar hypoplasia.

Marrone (2007): Reported hom missense (not in gnomAD) in 1 patient from consang fam with Hoyeraal-Hreidarsson syndrome, which is a severe variant of DKC
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.53 BCL11A Zornitza Stark Marked gene: BCL11A as ready
Cerebellar and Pontocerebellar Hypoplasia v0.53 BCL11A Zornitza Stark Gene: bcl11a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.53 BCL11A Zornitza Stark Phenotypes for gene: BCL11A were changed from to Dias-Logan syndrome, MIM# 617101
Cerebellar and Pontocerebellar Hypoplasia v0.52 BCL11A Zornitza Stark Publications for gene: BCL11A were set to
Cerebellar and Pontocerebellar Hypoplasia v0.51 BCL11A Zornitza Stark Mode of inheritance for gene: BCL11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.50 TUBB Zornitza Stark Marked gene: TUBB as ready
Cerebellar and Pontocerebellar Hypoplasia v0.50 TUBB Zornitza Stark Gene: tubb has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.50 TUBB Zornitza Stark Classified gene: TUBB as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.50 TUBB Zornitza Stark Gene: tubb has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.49 CACNA1G Zornitza Stark Marked gene: CACNA1G as ready
Cerebellar and Pontocerebellar Hypoplasia v0.49 CACNA1G Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.49 CACNA1G Zornitza Stark Classified gene: CACNA1G as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.49 CACNA1G Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.48 TRAPPC6B Zornitza Stark Marked gene: TRAPPC6B as ready
Cerebellar and Pontocerebellar Hypoplasia v0.48 TRAPPC6B Zornitza Stark Gene: trappc6b has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.48 TRAPPC6B Zornitza Stark Phenotypes for gene: TRAPPC6B were changed from to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (MIM#617862)
Cerebellar and Pontocerebellar Hypoplasia v0.47 TRAPPC6B Zornitza Stark Publications for gene: TRAPPC6B were set to
Cerebellar and Pontocerebellar Hypoplasia v0.46 TRAPPC6B Zornitza Stark Mode of inheritance for gene: TRAPPC6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.45 TRAPPC6B Zornitza Stark Classified gene: TRAPPC6B as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.45 TRAPPC6B Zornitza Stark Gene: trappc6b has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.44 CEP55 Zornitza Stark Marked gene: CEP55 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.44 CEP55 Zornitza Stark Gene: cep55 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.44 CEP55 Zornitza Stark Phenotypes for gene: CEP55 were changed from to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500
Cerebellar and Pontocerebellar Hypoplasia v0.43 CEP55 Zornitza Stark Publications for gene: CEP55 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.42 CEP55 Zornitza Stark Mode of inheritance for gene: CEP55 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.41 CEP55 Zornitza Stark Classified gene: CEP55 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.41 CEP55 Zornitza Stark Gene: cep55 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.40 TMEM5 Zornitza Stark Marked gene: TMEM5 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.40 TMEM5 Zornitza Stark Gene: tmem5 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.40 TMEM5 Zornitza Stark Classified gene: TMEM5 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.40 TMEM5 Zornitza Stark Gene: tmem5 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.39 TINF2 Zornitza Stark Marked gene: TINF2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.39 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.39 TINF2 Zornitza Stark Classified gene: TINF2 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.39 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.38 CWF19L1 Zornitza Stark Marked gene: CWF19L1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.38 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.38 CWF19L1 Zornitza Stark Classified gene: CWF19L1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.38 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.37 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.37 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.37 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Cerebellar and Pontocerebellar Hypoplasia v0.36 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.35 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.34 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.34 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.33 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.33 COASY Alison Yeung Marked gene: COASY as ready
Cerebellar and Pontocerebellar Hypoplasia v0.33 COASY Alison Yeung Added comment: Comment when marking as ready: Currently only two families reported with cerebellar hypoplasia.
Cerebellar and Pontocerebellar Hypoplasia v0.33 COASY Alison Yeung Gene: coasy has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.33 COASY Alison Yeung Classified gene: COASY as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.33 COASY Alison Yeung Gene: coasy has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.32 CWF19L1 Elena Savva gene: CWF19L1 was added
gene: CWF19L1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to PMID:26197978; 25361784; 27016154; 15981765
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17 616127
Review for gene: CWF19L1 was set to GREEN
Added comment: Cerebellar hypoplasia predominantly affecting the vermis (OMIM)

PMID: 26197978 - 1 child with severe cerebellar hypoplasia (see below)

PMID: 25361784 - 1 family (2 siblings) with hypoplasia in the vermis and cerebellar hemispheres. Zebrafish animal model showed defective cerebellar structure and diminished staining

PMID: 27016154 - 1 family (1 child) with early onset cerebellar atrophy, proven by serial MRIs. Authors specify this is NOT hypoplasia, and highlight that PMID: 26197978 incorrectly reported hypoplasia instead of atrophy. Authors also acknowledge that hypoplasia and atrophy may be both occurring. Also notes MRI results from PMID: 15981765 have been published in PMID: 25361784.

PMID: 15981765 - 3 unrelated families (3 sibling pairs) with cerebellar hemisphere and vermis hypoplasia. Described as non-progressive.
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.32 COASY Elena Savva gene: COASY was added
gene: COASY was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to PMID: 30089828; 27021474; 24360804
Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266
Review for gene: COASY was set to AMBER
Added comment: Emerging genotype-phenotype association:

PMID: 30089828 - 2 families (4 affecteds) with pontocerebellar hypoplasia. All patients have variants resulting in near-null protein expression. Same patient listed in Decipher.

PMID: 27021474 - Patient with NBIA, has a homozygous missense and is 17 years old. Patient had MRI, no mention of cerebellar hypoplasia/atrophy

PMID: 24360804 - Two patients (one chet PTC and missense, other a homozygous missense). Both patients had brain MRI, no mention of cerebellar hypoplasia/atrophy

Summary:
If residual activity -> NBIA phenotype, no cerebellar issues
If completely or near null - pontocerebellar hypoplasia
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.32 TINF2 Crystle Lee gene: TINF2 was added
gene: TINF2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TINF2 were set to 18252230; 18979121; 18669893; 21477109
Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3 (MIM#613990); Revesz syndrome (MIM#268130)
Review for gene: TINF2 was set to GREEN
Added comment: Cerebellar hypoplasia is reported but not a consistent feature. Commonly associated with specific variants reported to cause dyskeratosis congenita and features of Hoyeraal-Hreidarsson and Revesz syndrome. The variants in patients with HH and/or RS are clustered at aa 280, 282, and 283 (Walne 2008)

PMID: 18252230; Savage 2008: Cerebellar hypoplasia reported one proband diagnosed with dyskeratosis congenita and Revesz syndrome. Same missense, R282H, reported in 2 other individuals who did not have cerebellar hypoplasia
PMID: 18979121; Tsangaris 2008: 1 proband with the same R282H reported. Cerebellar hypoplasia noted.
PMID: 18669893; Walne 2008: Cerebellar hypoplasia reported in 1 of 14 patients with R282H
PMID: 21477109; Sasa 2013: Cerebellar hypoplasia reported in 1 patient, p.(K280RfsX36).
PanelApp UK: "Variable cerebellar hypoplasia seen in this condition" Green
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.32 TMEM5 Crystle Lee gene: TMEM5 was added
gene: TMEM5 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM5 were set to 23217329
Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 (MIM#615041)
Review for gene: TMEM5 was set to GREEN
Added comment: Associated with cerebellar dysplasia. This gene is also known as RXYLT1

PMID: 23217329; Vuillaumier-Barrot 2012: Reported hom variants in 5 families with cobblestone lissencephaly.
PMID: 27212206; Guja Astrea 2016; Reported one patient with dysplastic cerebellar cortex, and small subcortical cerebellar cysts. Hypoplasia of the pons with a ventral cleft and a dilated and dysmorphic fourth ventricle.
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.32 CEP55 Elena Savva reviewed gene: CEP55: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28264986, 32100459, 28295209; Phenotypes: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.32 TRAPPC6B Crystle Lee reviewed gene: TRAPPC6B: Rating: RED; Mode of pathogenicity: None; Publications: 28626029, 28397838; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (MIM#617862); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.32 CACNA1G Elena Savva gene: CACNA1G was added
gene: CACNA1G was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1G were set to PMID: 29878067; 31217264; 26456284
Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 618087
Mode of pathogenicity for gene: CACNA1G was set to Other
Review for gene: CACNA1G was set to GREEN
Added comment: OMIM notes Cerebellar hypoplasia as a phenotype

Mechanism currently listed as unknown, with evidence of both LoF and GoF (PMID: 31217264). PMID: 29878067 demonstrated impaired channel inactivation with slower inactivation and deactivation kinetics (suggesting GOF). Given only missense have been reported, this is the likely mechanism of disease.

PMID: 29878067 - cerebellar ataxia observed in 4 children, global atrophy in 3/4 and vermis atrophy in 1/4. All showed normal pons. Three children share a recurring de novo missense (p.Ala961Thr).

PMID: 26456284 - overlapping authors with 29878067 but describes familial cases. Additional (adult and children) patients with cerebellar hypoplasia and vermian atrophy
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.32 TUBB Crystle Lee changed review comment from: Previously reported as TUBB5. Limited evidence supporting cerebellar hypoplasia

Brainstem hypoplasia; Cerebellar hypoplasia listed in OMIM clinical synopsis (Cortical dysplasia, complex, with other brain malformations 6)
Breuss M: Cerebellum abnormalities reported in 3 patients. (1x Hypoplastic and dysplastic cerebellar vermis; 1x Possible white matter abnormalities.; 1x Large 4th ventricle)
Decipher DDD - 1 of 4 patient reported with Aplasia/Hypoplasia of the cerebellar vermis
Red in PanelApp UK
Sources: Expert Review; to: Previously reported as TUBB5. Limited evidence supporting cerebellar hypoplasia

Brainstem hypoplasia; Cerebellar hypoplasia listed in OMIM clinical synopsis (Cortical dysplasia, complex, with other brain malformations 6)
Breuss M: Cerebellum abnormalities reported in 3 patients with de novo missense variants. (1x Hypoplastic and dysplastic cerebellar vermis; 1x Possible white matter abnormalities.; 1x Large 4th ventricle)
Decipher DDD - 1 of 4 patient reported with Aplasia/Hypoplasia of the cerebellar vermis
Red in PanelApp UK
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.32 TUBB Crystle Lee gene: TUBB was added
gene: TUBB was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB were set to 23246003
Phenotypes for gene: TUBB were set to Cortical dysplasia, complex, with other brain malformations 6 (MIM#615771)
Review for gene: TUBB was set to AMBER
Added comment: Previously reported as TUBB5. Limited evidence supporting cerebellar hypoplasia

Brainstem hypoplasia; Cerebellar hypoplasia listed in OMIM clinical synopsis (Cortical dysplasia, complex, with other brain malformations 6)
Breuss M: Cerebellum abnormalities reported in 3 patients. (1x Hypoplastic and dysplastic cerebellar vermis; 1x Possible white matter abnormalities.; 1x Large 4th ventricle)
Decipher DDD - 1 of 4 patient reported with Aplasia/Hypoplasia of the cerebellar vermis
Red in PanelApp UK
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.32 BCL11A Elena Savva reviewed gene: BCL11A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27453576, 25979662; Phenotypes: Dias-Logan syndrome 617101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebellar and Pontocerebellar Hypoplasia v0.32 TBC1D23 Zornitza Stark Marked gene: TBC1D23 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.32 TBC1D23 Zornitza Stark Gene: tbc1d23 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.32 TBC1D23 Zornitza Stark Phenotypes for gene: TBC1D23 were changed from to Pontocerebellar hypoplasia, type 11, MIM# 617695
Cerebellar and Pontocerebellar Hypoplasia v0.31 TBC1D23 Zornitza Stark Publications for gene: TBC1D23 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.30 TBC1D23 Zornitza Stark Mode of inheritance for gene: TBC1D23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.29 TBC1D23 Zornitza Stark reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: None; Publications: 28823707, 28823706; Phenotypes: Pontocerebellar hypoplasia, type 11, MIM# 617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.29 AUTS2 Zornitza Stark Marked gene: AUTS2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.29 AUTS2 Zornitza Stark Gene: auts2 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.29 WDR37 Zornitza Stark Marked gene: WDR37 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.29 WDR37 Zornitza Stark Gene: wdr37 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.29 ADGRG1 Zornitza Stark Marked gene: ADGRG1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.29 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.29 ADGRG1 Zornitza Stark Classified gene: ADGRG1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.29 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.28 AUTS2 Zornitza Stark Phenotypes for gene: AUTS2 were changed from Mental retardation, autosomal dominant 26, MIM# 615834 to Mental retardation, autosomal dominant 26, MIM# 615834
Cerebellar and Pontocerebellar Hypoplasia v0.28 WDR81 Zornitza Stark Marked gene: WDR81 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.28 WDR81 Zornitza Stark Gene: wdr81 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.28 WDR81 Zornitza Stark Classified gene: WDR81 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.28 WDR81 Zornitza Stark Gene: wdr81 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.27 WDR37 Zornitza Stark Phenotypes for gene: WDR37 were changed from to Neurooculocardiogenitourinary syndrome (MIM#618652)
Cerebellar and Pontocerebellar Hypoplasia v0.27 AUTS2 Zornitza Stark Phenotypes for gene: AUTS2 were changed from to Mental retardation, autosomal dominant 26, MIM# 615834
Cerebellar and Pontocerebellar Hypoplasia v0.27 WDR37 Zornitza Stark Publications for gene: WDR37 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.26 CA8 Zornitza Stark Marked gene: CA8 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.26 CA8 Zornitza Stark Gene: ca8 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.26 AUTS2 Zornitza Stark Publications for gene: AUTS2 were set to 17211639; 27075013; 22872102
Cerebellar and Pontocerebellar Hypoplasia v0.26 AUTS2 Zornitza Stark Publications for gene: AUTS2 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.25 AUTS2 Zornitza Stark Mode of inheritance for gene: AUTS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.24 AUTS2 Zornitza Stark Classified gene: AUTS2 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.24 AUTS2 Zornitza Stark Gene: auts2 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.23 AUTS2 Zornitza Stark Classified gene: AUTS2 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.23 AUTS2 Zornitza Stark Gene: auts2 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.22 AUTS2 Zornitza Stark Tag SV/CNV tag was added to gene: AUTS2.
Cerebellar and Pontocerebellar Hypoplasia v0.22 WDR37 Zornitza Stark Mode of inheritance for gene: WDR37 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.21 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.21 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.21 B3GALNT2 Zornitza Stark Classified gene: B3GALNT2 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.21 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.20 CA8 Zornitza Stark Classified gene: CA8 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.20 CA8 Zornitza Stark Gene: ca8 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.19 CA8 Elena Savva gene: CA8 was added
gene: CA8 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA8 were set to PMID: 31693170; 19461874; 23087022
Phenotypes for gene: CA8 were set to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227
Added comment: Cerebellar ataxia listed in OMIM

PMID: 31693170, VCGS publication - 1 child with homozygous PTC and progressive cerebellar atrophy, poor oromotor coordination, marked cerebellar dysarthria. Paper reviews other findings for this gene (very few) and notes MRI findings of one additional patient with cerebellar hypoplasia, and another with cerebellar volume loss. Another patient is reported with cerebellar ataxia but had no MRI (PMID: 19461874).

PMID: 23087022 - zebrafish mutant models demonstrate increased neuronal cell death in the cerebellum, lost cerebellar volume
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.19 B3GALNT2 Elena Savva gene: B3GALNT2 was added
gene: B3GALNT2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALNT2 were set to PMID: 23453667; 29791932
Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181
Review for gene: B3GALNT2 was set to GREEN
Added comment: PMID: 23453667 - 5 unrelated patients reviewed, all less than 2 years old. Pontocerebellar hypoplasia reported in 2/5, cerebellar dysplasia in 2/5.

PMID: 29791932 - 1 patient w/ pontocerebellar hypoplasia. Reviews previous reports and notes an additional two patients with hypoplastic pons and cerebellar cysts
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.19 WDR37 Crystle Lee reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: None; Publications: 31327508; Phenotypes: Neurooculocardiogenitourinary syndrome (MIM#618652); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebellar and Pontocerebellar Hypoplasia v0.19 AUTS2 Elena Savva reviewed gene: AUTS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17211639, 27075013, 22872102; Phenotypes: Mental retardation, autosomal dominant 26 615834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebellar and Pontocerebellar Hypoplasia v0.19 WDR81 Crystle Lee gene: WDR81 was added
gene: WDR81 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR81 were set to 25558065; 21885617
Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
Review for gene: WDR81 was set to GREEN
Added comment: Associated with cerebellar hypoplasia

PMID: 25558065; Alazami 2015: 1 hom missense reported. Severe cerebellar hypoplasia noted as cause of death. No additional information.
PMID: 21885617: Gulsuner 2011: Hom missense reported in a large consang family as the cause of cerebellar hypoplasia
Komara 2016: 2 sibs in consang fam.
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.19 ADGRG1 Elena Savva gene: ADGRG1 was added
gene: ADGRG1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRG1 were set to PMID: 20929962; 16240336
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal 606854; Polymicrogyria, bilateral perisylvian 615752
Review for gene: ADGRG1 was set to GREEN
Added comment: aka GPR56

PMID: 15044805 - paper linked from PanelApp UK - no patients with relevant phenotype

PMID: 20929962 - terminated fetus with agenesis of the cerebellar vermis and hypoplastic cerebellar hemispheres, was homozygous for a missense. Cerebellar dysplasia was observed in all patients (13/13), with vermis involvement in 11/13 patients. Hypoplasia with flattening of the ventral portion of the pons at the level of the middle cerebellar peduncle was detected in all patients

PMID: 16240336 - 17/18 families show brainstem/cerebellar hypoplasia
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.19 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.19 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.19 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Cerebellar and Pontocerebellar Hypoplasia v0.18 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.17 TUBA8 Zornitza Stark Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.16 TUBA8 Zornitza Stark Classified gene: TUBA8 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.16 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.15 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.15 INTS8 Zornitza Stark Marked gene: INTS8 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.15 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.15 INTS8 Zornitza Stark Phenotypes for gene: INTS8 were changed from to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572
Cerebellar and Pontocerebellar Hypoplasia v0.14 INTS8 Zornitza Stark Publications for gene: INTS8 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.13 INTS8 Zornitza Stark Mode of inheritance for gene: INTS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.12 INTS8 Zornitza Stark Classified gene: INTS8 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.12 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.11 INTS8 Zornitza Stark reviewed gene: INTS8: Rating: RED; Mode of pathogenicity: None; Publications: 28542170; Phenotypes: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.11 MAB21L1 Zornitza Stark Marked gene: MAB21L1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.11 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.11 MAB21L1 Sue White Classified gene: MAB21L1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.11 MAB21L1 Sue White Gene: mab21l1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.10 MAB21L1 Sue White gene: MAB21L1 was added
gene: MAB21L1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome 618479
Penetrance for gene: MAB21L1 were set to Complete
Review for gene: MAB21L1 was set to GREEN
Added comment: Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.9 Zornitza Stark Panel name changed from Cerebellar and Pontocerebellar hypoplasia to Cerebellar and Pontocerebellar Hypoplasia
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Cerebellar and Pontocerebellar Hypoplasia v0.8 Zornitza Stark Panel name changed from Cerebellar and Pontocerebellar hypoplasia_VCGS to Cerebellar and Pontocerebellar hypoplasia
Panel types changed to Victorian Clinical Genetics Services
Cerebellar and Pontocerebellar Hypoplasia v0.7 FOXP1 Zornitza Stark Phenotypes for gene: FOXP1 were changed from to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Cerebellar and Pontocerebellar Hypoplasia v0.6 FOXP1 Zornitza Stark Publications for gene: FOXP1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.5 FOXP1 Zornitza Stark Mode of inheritance for gene: FOXP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.4 UFM1 Zornitza Stark reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, MIM# 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.4 FZD3 Zornitza Stark Marked gene: FZD3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.4 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.4 FZD3 Zornitza Stark Classified gene: FZD3 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.4 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.3 FZD3 Zornitza Stark reviewed gene: FZD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebellar and Pontocerebellar Hypoplasia v0.3 KAT5 Zornitza Stark Marked gene: KAT5 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.3 KAT5 Zornitza Stark Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.
Cerebellar and Pontocerebellar Hypoplasia v0.3 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.3 KAT5 Zornitza Stark Classified gene: KAT5 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.3 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.2 WDR91 Sebastian Lunke Classified gene: WDR91 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.2 WDR91 Sebastian Lunke Gene: wdr91 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.1 WDR91 Sebastian Lunke Marked gene: WDR91 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.1 WDR91 Sebastian Lunke Gene: wdr91 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.1 WDR91 Sebastian Lunke reviewed gene: WDR91: Rating: RED; Mode of pathogenicity: None; Publications: 28969387; Phenotypes: ; Mode of inheritance: Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.1 PCLO Zornitza Stark Marked gene: PCLO as ready
Cerebellar and Pontocerebellar Hypoplasia v0.1 PCLO Zornitza Stark Gene: pclo has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.1 PCLO Zornitza Stark Classified gene: PCLO as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.1 PCLO Zornitza Stark Gene: pclo has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.0 PCLO Zornitza Stark reviewed gene: PCLO: Rating: AMBER; Mode of pathogenicity: None; Publications: 25832664; Phenotypes: Pontocerebellar hypoplasia, type 3, MIM#608027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.0 WDR91 Zornitza Stark gene: WDR91 was added
gene: WDR91 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR91 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 WDR37 Zornitza Stark gene: WDR37 was added
gene: WDR37 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR37 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 VRK1 Zornitza Stark gene: VRK1 was added
gene: VRK1 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VRK1 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 VPS53 Zornitza Stark gene: VPS53 was added
gene: VPS53 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS53 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 VLDLR Zornitza Stark gene: VLDLR was added
gene: VLDLR was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VLDLR was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 UFM1 Zornitza Stark gene: UFM1 was added
gene: UFM1 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UFM1 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 TUBB3 Zornitza Stark gene: TUBB3 was added
gene: TUBB3 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB3 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 TUBB2B Zornitza Stark gene: TUBB2B was added
gene: TUBB2B was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB2B was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBA8 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 TUBA1A Zornitza Stark gene: TUBA1A was added
gene: TUBA1A was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBA1A was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 TSEN54 Zornitza Stark gene: TSEN54 was added
gene: TSEN54 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSEN54 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 TSEN34 Zornitza Stark gene: TSEN34 was added
gene: TSEN34 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSEN34 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 TSEN2 Zornitza Stark gene: TSEN2 was added
gene: TSEN2 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSEN2 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 TSEN15 Zornitza Stark gene: TSEN15 was added
gene: TSEN15 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSEN15 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 TRAPPC6B Zornitza Stark gene: TRAPPC6B was added
gene: TRAPPC6B was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAPPC6B was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 TOE1 Zornitza Stark gene: TOE1 was added
gene: TOE1 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TOE1 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 TBCK Zornitza Stark gene: TBCK was added
gene: TBCK was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBCK was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 TBC1D23 Zornitza Stark gene: TBC1D23 was added
gene: TBC1D23 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBC1D23 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 SPTBN2 Zornitza Stark gene: SPTBN2 was added
gene: SPTBN2 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPTBN2 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 SLC25A46 Zornitza Stark gene: SLC25A46 was added
gene: SLC25A46 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A46 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 SETD2 Zornitza Stark gene: SETD2 was added
gene: SETD2 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SETD2 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 SEPSECS Zornitza Stark gene: SEPSECS was added
gene: SEPSECS was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SEPSECS was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 RELN Zornitza Stark gene: RELN was added
gene: RELN was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RELN was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 RARS2 Zornitza Stark gene: RARS2 was added
gene: RARS2 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RARS2 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 RAB11B Zornitza Stark gene: RAB11B was added
gene: RAB11B was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAB11B was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 PUS3 Zornitza Stark gene: PUS3 was added
gene: PUS3 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PUS3 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 PPP1CB Zornitza Stark gene: PPP1CB was added
gene: PPP1CB was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPP1CB was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 PCLO Zornitza Stark gene: PCLO was added
gene: PCLO was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCLO was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 OPHN1 Zornitza Stark gene: OPHN1 was added
gene: OPHN1 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OPHN1 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 KIAA1109 Zornitza Stark gene: KIAA1109 was added
gene: KIAA1109 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIAA1109 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 KCNC3 Zornitza Stark gene: KCNC3 was added
gene: KCNC3 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNC3 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 KAT5 Zornitza Stark gene: KAT5 was added
gene: KAT5 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KAT5 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 ITPR1 Zornitza Stark gene: ITPR1 was added
gene: ITPR1 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITPR1 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 INTS8 Zornitza Stark gene: INTS8 was added
gene: INTS8 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: INTS8 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 GPAA1 Zornitza Stark gene: GPAA1 was added
gene: GPAA1 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GPAA1 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 FZD3 Zornitza Stark gene: FZD3 was added
gene: FZD3 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FZD3 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 FOXP1 Zornitza Stark gene: FOXP1 was added
gene: FOXP1 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXP1 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 EXOSC9 Zornitza Stark gene: EXOSC9 was added
gene: EXOSC9 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EXOSC9 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 EXOSC8 Zornitza Stark gene: EXOSC8 was added
gene: EXOSC8 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EXOSC8 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 EXOSC5 Zornitza Stark gene: EXOSC5 was added
gene: EXOSC5 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EXOSC5 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 EXOSC3 Zornitza Stark gene: EXOSC3 was added
gene: EXOSC3 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EXOSC3 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 DDX3X Zornitza Stark gene: DDX3X was added
gene: DDX3X was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DDX3X was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 CLP1 Zornitza Stark gene: CLP1 was added
gene: CLP1 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLP1 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 CHMP1A Zornitza Stark gene: CHMP1A was added
gene: CHMP1A was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHMP1A was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 CEP55 Zornitza Stark gene: CEP55 was added
gene: CEP55 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP55 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CASK was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 BRF1 Zornitza Stark gene: BRF1 was added
gene: BRF1 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRF1 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 BCL11A Zornitza Stark gene: BCL11A was added
gene: BCL11A was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BCL11A was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 AUTS2 Zornitza Stark gene: AUTS2 was added
gene: AUTS2 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AUTS2 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 AMPD2 Zornitza Stark gene: AMPD2 was added
gene: AMPD2 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AMPD2 was set to Unknown
Cerebellar and Pontocerebellar Hypoplasia v0.0 Zornitza Stark Added panel Cerebellar and Pontocerebellar hypoplasia_VCGS