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Holoprosencephaly and septo-optic dysplasia v1.16 CNOT1 Zornitza Stark Phenotypes for gene: CNOT1 were changed from Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787 to Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787
Holoprosencephaly and septo-optic dysplasia v1.16 CNOT1 Zornitza Stark Phenotypes for gene: CNOT1 were changed from HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS; HPE12; OMIM# 618500 to Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787
Holoprosencephaly and septo-optic dysplasia v1.15 CNOT1 Zornitza Stark Classified gene: CNOT1 as Amber List (moderate evidence)
Holoprosencephaly and septo-optic dysplasia v1.15 CNOT1 Zornitza Stark Gene: cnot1 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v1.14 CNOT1 Zornitza Stark edited their review of gene: CNOT1: Changed rating: AMBER
Holoprosencephaly and septo-optic dysplasia v1.14 CNOT1 Zornitza Stark edited their review of gene: CNOT1: Added comment: LIMITED by ClinGen for holoprosencephaly 12 with or without pancreatic agenesis, MONDO:0032787

ClinGen curation:
CNOT1 was originally reported in cases of holoprosencephaly and/or pancreatic agenesis/insufficiency in 2019 (PMID: 31006513, 31006510). One of the papers included 3 individuals with heterozygous p.Arg535Cys (PMID: 31006513), confirmed to be de novo in 2 individuals. One of these individuals was not scored due to a lack of documentation of holoprosencephaly. The other paper included 2 individuals with de novo p.Arg535Cys, both of whom with holoprosencephaly. A knock-in mouse model of this variant showed neurological and pancreatic abnormalities at E14.5, and this evidence was used to augment the genetic evidence. A mouse brain expression study (PMID: 31006510) was scored as functional evidence. In total, there is Limited evidence to support the gene-disease relationship between CNOT1 and holoprosencephaly with or without pancreatic agenesis. Of note, this gene has also been implicated in Vissers-Bodmer syndrome, which is characterized by global developmental delay and behavioral abnormalities apparent from infancy. As the condition is clinically distinct from holoprosencephaly and/or pancreatic agenesis/insufficiency, lacks specific structural brain anomalies, and likely has different molecular mechanisms, this will be/have been assessed separately.; Changed phenotypes: Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787
Holoprosencephaly and septo-optic dysplasia v1.14 DISP1 Bryony Thompson Publications for gene: DISP1 were set to 19184110; 26748417; 23542665
Holoprosencephaly and septo-optic dysplasia v1.13 DISP1 Bryony Thompson Mode of inheritance for gene: DISP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Holoprosencephaly and septo-optic dysplasia v1.12 DISP1 Bryony Thompson Classified gene: DISP1 as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v1.12 DISP1 Bryony Thompson Gene: disp1 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v1.10 ZRSR2 Zornitza Stark Marked gene: ZRSR2 as ready
Holoprosencephaly and septo-optic dysplasia v1.10 ZRSR2 Zornitza Stark Gene: zrsr2 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v1.10 ZRSR2 Zornitza Stark Classified gene: ZRSR2 as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v1.10 ZRSR2 Zornitza Stark Gene: zrsr2 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v1.9 ZRSR2 Michelle Torres gene: ZRSR2 was added
gene: ZRSR2 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZRSR2 were set to 38158857
Phenotypes for gene: ZRSR2 were set to Orofacialdigital syndrome MONDO:0015375, ZRSR2-related
Review for gene: ZRSR2 was set to GREEN
gene: ZRSR2 was marked as current diagnostic
Added comment: Oral-facial-digital (OFD) syndrome with brain anomalies ranging from alobar holoprosencephaly to pituitary anomalies.

Six unrelated families with two truncating variants and functional studies:
- p.(Gly404GlufsTer23): detected in one family with 2x affected males
- p.(Arg403GlyfsTer24): 5 unrelated families, both de novo and inherited
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v1.9 STIL Chirag Patel Classified gene: STIL as Amber List (moderate evidence)
Holoprosencephaly and septo-optic dysplasia v1.9 STIL Chirag Patel Gene: stil has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v1.9 STIL Chirag Patel Classified gene: STIL as Amber List (moderate evidence)
Holoprosencephaly and septo-optic dysplasia v1.9 STIL Chirag Patel Gene: stil has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v1.8 STIL Chirag Patel Classified gene: STIL as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v1.8 STIL Chirag Patel Gene: stil has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v1.7 STIL Chirag Patel reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25658757; Phenotypes: Holoprosencephaly and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Holoprosencephaly and septo-optic dysplasia v1.7 Zornitza Stark HPO terms changed from to Holoprosencephaly, HP:0001360; Septo-optic dysplasia, HP:0100842
List of related panels changed from to Holoprosencephaly; HP:0001360; Septo-optic dysplasia; HP:0100842
Holoprosencephaly and septo-optic dysplasia v1.6 NODAL Zornitza Stark commented on gene: NODAL: Predominantly associated with complex congenital heart disease (Amber), no evidence for association with major brain abnormalities.
Holoprosencephaly and septo-optic dysplasia v1.6 ARID1A Zornitza Stark Marked gene: ARID1A as ready
Holoprosencephaly and septo-optic dysplasia v1.6 ARID1A Zornitza Stark Gene: arid1a has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v1.6 ARID1A Zornitza Stark Classified gene: ARID1A as Amber List (moderate evidence)
Holoprosencephaly and septo-optic dysplasia v1.6 ARID1A Zornitza Stark Gene: arid1a has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v1.5 ARID1A Zornitza Stark reviewed gene: ARID1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 2 #614607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v1.5 SOX2 Zornitza Stark Marked gene: SOX2 as ready
Holoprosencephaly and septo-optic dysplasia v1.5 SOX2 Zornitza Stark Gene: sox2 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v1.5 SOX2 Zornitza Stark Classified gene: SOX2 as Amber List (moderate evidence)
Holoprosencephaly and septo-optic dysplasia v1.5 SOX2 Zornitza Stark Gene: sox2 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v1.4 SOX2 Zornitza Stark reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic nerve hypoplasia and abnormalities of the central nervous system #206900, Microphthalmia, syndromic 3 #206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v1.4 ARID1A Di Milnes gene: ARID1A was added
gene: ARID1A was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARID1A were set to 35885948
Phenotypes for gene: ARID1A were set to Coffin-Siris syndrome 2 #614607
Review for gene: ARID1A was set to AMBER
Added comment: single case SOD (absent septum pellucidum, absent corpus callosum, ventriculomegaly, aqueductal stenosis ONH), a ventricular septal defect and a patent foramen ovale, 13 pairs of ribs, bilateral clinodactyly, single palmar crease, broad large toe with hypoplastic nail, cleft palate, choanal atresia, seizures, apnoea, and dysmorphic facial features, including down-slanting palpebral fissures, long columella, low-set and posteriorly rotated ears, depressed nasal bridge, scant hair due to premature birth; he died at 6 weeks of age.
Mosaic truncating variant confirmed de novo Sanger sequencing (33% exome reads, lower peak on Sanger)
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v1.4 SOX2 Di Milnes gene: SOX2 was added
gene: SOX2 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX2 were set to 35885948
Phenotypes for gene: SOX2 were set to Optic nerve hypoplasia and abnormalities of the central nervous system #206900; Microphthalmia, syndromic 3 #206900
Review for gene: SOX2 was set to AMBER
Added comment: single case SOD (mild ONH, absent septum pellucidum, hypoplasia corpus callosum, dilated lateral ventricles de novo trio WES confirmed Sanger sequencing
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v1.4 PLCH1 Zornitza Stark Phenotypes for gene: PLCH1 were changed from Holoprosencephaly spectrum; Severe developmental delay; Brain malformations to Holoprosencephaly 14, MIM# 619895
Holoprosencephaly and septo-optic dysplasia v1.3 PLCH1 Zornitza Stark edited their review of gene: PLCH1: Changed phenotypes: Holoprosencephaly 14, MIM# 619895
Holoprosencephaly and septo-optic dysplasia v1.3 DISP1 Zornitza Stark Phenotypes for gene: DISP1 were changed from Holoprosencephaly to Holoprosencephaly, MONDO:0016296
Holoprosencephaly and septo-optic dysplasia v1.2 RAD21 Zornitza Stark Publications for gene: RAD21 were set to 31334757
Holoprosencephaly and septo-optic dysplasia v1.1 RAD21 Arina Puzriakova reviewed gene: RAD21: Rating: ; Mode of pathogenicity: None; Publications: 32696056; Phenotypes: ; Mode of inheritance: None
Holoprosencephaly and septo-optic dysplasia v1.1 SCN7A Zornitza Stark Marked gene: SCN7A as ready
Holoprosencephaly and septo-optic dysplasia v1.1 SCN7A Zornitza Stark Gene: scn7a has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v1.1 SCN7A Zornitza Stark gene: SCN7A was added
gene: SCN7A was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: SCN7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCN7A were set to 32732226
Phenotypes for gene: SCN7A were set to Holoprosencephaly
Review for gene: SCN7A was set to RED
Added comment: Novel candidate gene identified in a fetus with holoprosencephaly detected by ultrasound. Autopsy showed multiple congenital abnormalities including IUGR, microcephaly, bilateral, ablepharon, corpus callosum agenesis, myelomeningocele, tracheal atresia, absent nipples, unilateral simian crease, and hypoplastic phalanges. Compound heterozygous variants including a truncating variant were found by exome sequencing with concordant segregation.
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v1.0 Zornitza Stark promoted panel to version 1.0
Holoprosencephaly and septo-optic dysplasia v0.83 PRDM15 Zornitza Stark changed review comment from: Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic HPE including SRNS, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data.
Sources: Literature; to: Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic HPE including SRNS, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data.

Two additional homozygous missense identified with isolated SRNS.
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v0.83 PRDM15 Zornitza Stark Marked gene: PRDM15 as ready
Holoprosencephaly and septo-optic dysplasia v0.83 PRDM15 Zornitza Stark Gene: prdm15 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.83 PRDM15 Zornitza Stark Classified gene: PRDM15 as Amber List (moderate evidence)
Holoprosencephaly and septo-optic dysplasia v0.83 PRDM15 Zornitza Stark Gene: prdm15 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.82 PRDM15 Zornitza Stark gene: PRDM15 was added
gene: PRDM15 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM15 were set to 31950080
Phenotypes for gene: PRDM15 were set to Holoprosenephaly; Steroid resistant nephrotic syndrome; Multiple congenital anomalies
Review for gene: PRDM15 was set to AMBER
Added comment: Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic HPE including SRNS, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data.
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v0.81 PLCH1 Zornitza Stark Marked gene: PLCH1 as ready
Holoprosencephaly and septo-optic dysplasia v0.81 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.81 ZIC2 Zornitza Stark Marked gene: ZIC2 as ready
Holoprosencephaly and septo-optic dysplasia v0.81 ZIC2 Zornitza Stark Gene: zic2 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.81 ZIC2 Zornitza Stark Phenotypes for gene: ZIC2 were changed from to Holoprosencephaly 5, MIM# 609637; MONDO:0012322
Holoprosencephaly and septo-optic dysplasia v0.80 ZIC2 Zornitza Stark Publications for gene: ZIC2 were set to
Holoprosencephaly and septo-optic dysplasia v0.79 ZIC2 Zornitza Stark Mode of inheritance for gene: ZIC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.78 ZIC2 Zornitza Stark reviewed gene: ZIC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9771712, 11285244; Phenotypes: Holoprosencephaly 5, MIM# 609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.78 TGIF1 Zornitza Stark Marked gene: TGIF1 as ready
Holoprosencephaly and septo-optic dysplasia v0.78 TGIF1 Zornitza Stark Gene: tgif1 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.78 TGIF1 Zornitza Stark Phenotypes for gene: TGIF1 were changed from to Holoprosencephaly 4, MIM# 142946; MONDO:0007734
Holoprosencephaly and septo-optic dysplasia v0.77 TGIF1 Zornitza Stark Publications for gene: TGIF1 were set to
Holoprosencephaly and septo-optic dysplasia v0.76 TGIF1 Zornitza Stark Mode of inheritance for gene: TGIF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.75 TGIF1 Zornitza Stark reviewed gene: TGIF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835638, 16323008; Phenotypes: Holoprosencephaly 4, MIM# 142946, MONDO:0007734; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.75 SIX3 Zornitza Stark Marked gene: SIX3 as ready
Holoprosencephaly and septo-optic dysplasia v0.75 SIX3 Zornitza Stark Gene: six3 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.75 SIX3 Zornitza Stark Phenotypes for gene: SIX3 were changed from to Holoprosencephaly 2, MIM# 157170; MONDO:0007999
Holoprosencephaly and septo-optic dysplasia v0.74 SIX3 Zornitza Stark Publications for gene: SIX3 were set to
Holoprosencephaly and septo-optic dysplasia v0.73 SIX3 Zornitza Stark Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.72 SIX3 Zornitza Stark reviewed gene: SIX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369266, 16323008, 19346217; Phenotypes: Holoprosencephaly 2, MIM# 157170, MONDO:0007999; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.72 PTCH1 Zornitza Stark Marked gene: PTCH1 as ready
Holoprosencephaly and septo-optic dysplasia v0.72 PTCH1 Zornitza Stark Gene: ptch1 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.72 PTCH1 Zornitza Stark Phenotypes for gene: PTCH1 were changed from to Holoprosencephaly 7, MIM# 610828
Holoprosencephaly and septo-optic dysplasia v0.71 PTCH1 Zornitza Stark Publications for gene: PTCH1 were set to
Holoprosencephaly and septo-optic dysplasia v0.70 PTCH1 Zornitza Stark Mode of inheritance for gene: PTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.69 PTCH1 Zornitza Stark reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11941477, 17001668, 29575684; Phenotypes: Holoprosencephaly 7, MIM# 610828; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.69 GLI2 Zornitza Stark Marked gene: GLI2 as ready
Holoprosencephaly and septo-optic dysplasia v0.69 GLI2 Zornitza Stark Gene: gli2 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.69 GLI2 Zornitza Stark Mode of inheritance for gene: GLI2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.68 GLI2 Zornitza Stark Publications for gene: GLI2 were set to
Holoprosencephaly and septo-optic dysplasia v0.67 GLI2 Zornitza Stark Phenotypes for gene: GLI2 were changed from to Holoprosencephaly 9, MIM# 610829; MONDO:0012563
Holoprosencephaly and septo-optic dysplasia v0.66 GLI2 Zornitza Stark reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14581620, 17096318, 33235745, 27585885; Phenotypes: Holoprosencephaly 9, MIM# 610829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.66 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
Holoprosencephaly and septo-optic dysplasia v0.66 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.66 FGFR1 Zornitza Stark Phenotypes for gene: FGFR1 were changed from to Hartsfield syndrome, MIM# 615465
Holoprosencephaly and septo-optic dysplasia v0.65 FGFR1 Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.64 FGFR1 Zornitza Stark reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hartsfield syndrome, MIM# 615465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.64 FGF8 Zornitza Stark Marked gene: FGF8 as ready
Holoprosencephaly and septo-optic dysplasia v0.64 FGF8 Zornitza Stark Gene: fgf8 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.64 FGF8 Zornitza Stark Phenotypes for gene: FGF8 were changed from to Holoprosencephaly; MONDO:0016296
Holoprosencephaly and septo-optic dysplasia v0.63 FGF8 Zornitza Stark Publications for gene: FGF8 were set to
Holoprosencephaly and septo-optic dysplasia v0.62 FGF8 Zornitza Stark Mode of inheritance for gene: FGF8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.61 FGF8 Zornitza Stark edited their review of gene: FGF8: Changed phenotypes: Holoprosencephaly, MONDO:0016296
Holoprosencephaly and septo-optic dysplasia v0.61 FGF8 Zornitza Stark reviewed gene: FGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 27363716, 29584859; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.61 DISP1 Zornitza Stark Marked gene: DISP1 as ready
Holoprosencephaly and septo-optic dysplasia v0.61 DISP1 Zornitza Stark Gene: disp1 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.61 DISP1 Zornitza Stark Phenotypes for gene: DISP1 were changed from to Holoprosencephaly
Holoprosencephaly and septo-optic dysplasia v0.60 DISP1 Zornitza Stark Mode of inheritance for gene: DISP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.59 DISP1 Zornitza Stark Mode of pathogenicity for gene: DISP1 was changed from to Other
Holoprosencephaly and septo-optic dysplasia v0.58 DISP1 Zornitza Stark Publications for gene: DISP1 were set to
Holoprosencephaly and septo-optic dysplasia v0.57 DISP1 Zornitza Stark Classified gene: DISP1 as Amber List (moderate evidence)
Holoprosencephaly and septo-optic dysplasia v0.57 DISP1 Zornitza Stark Gene: disp1 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.56 DISP1 Zornitza Stark reviewed gene: DISP1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 19184110, 26748417, 23542665; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.56 CDON Zornitza Stark Marked gene: CDON as ready
Holoprosencephaly and septo-optic dysplasia v0.56 CDON Zornitza Stark Gene: cdon has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.56 CDON Zornitza Stark Phenotypes for gene: CDON were changed from to Holoprosencephaly 11, MIM# 614226; MONDO:0013642
Holoprosencephaly and septo-optic dysplasia v0.55 CDON Zornitza Stark Publications for gene: CDON were set to
Holoprosencephaly and septo-optic dysplasia v0.54 CDON Zornitza Stark Mode of inheritance for gene: CDON was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.53 CDON Zornitza Stark edited their review of gene: CDON: Changed phenotypes: Holoprosencephaly 11, MIM# 614226, MONDO:0013642
Holoprosencephaly and septo-optic dysplasia v0.53 CDON Zornitza Stark changed review comment from: >5 unrelated families reported, however note some of the variants are present at a very low frequenting in gnomad (1-4) and some are inherited. Mouse model.; to: >5 unrelated families reported, however note some of the variants are present at a very low frequentcy in gnomad (1-4) and some are inherited. Mouse model.
Holoprosencephaly and septo-optic dysplasia v0.53 CDON Zornitza Stark reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: None; Publications: 21802063, 26529631, 26728615, 23071453; Phenotypes: Holoprosencephaly 11, MIM# 614226; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.53 PLCH1 Zornitza Stark Classified gene: PLCH1 as Amber List (moderate evidence)
Holoprosencephaly and septo-optic dysplasia v0.53 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.52 PLCH1 Zornitza Stark gene: PLCH1 was added
gene: PLCH1 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCH1 were set to 33820834
Phenotypes for gene: PLCH1 were set to Holoprosencephaly spectrum; Severe developmental delay; Brain malformations
Review for gene: PLCH1 was set to AMBER
Added comment: PMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease. Human embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome.
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v0.51 Zornitza Stark removed gene:CHD7 from the panel
Holoprosencephaly and septo-optic dysplasia v0.50 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Holoprosencephaly and septo-optic dysplasia v0.50 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.50 DHCR7 Zornitza Stark Classified gene: DHCR7 as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.50 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.49 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Expert list
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 11562938; 28805615; 20104611; 17001700
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400; alobar holoprosencephaly (HPE)
Review for gene: DHCR7 was set to GREEN
Added comment: Reports of HPE phenotype.
Sources: Expert list
Holoprosencephaly and septo-optic dysplasia v0.48 SHH Zornitza Stark Marked gene: SHH as ready
Holoprosencephaly and septo-optic dysplasia v0.48 SHH Zornitza Stark Gene: shh has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.48 SHH Zornitza Stark Phenotypes for gene: SHH were changed from to Holoprosencephaly 3 (MIM#142945)
Holoprosencephaly and septo-optic dysplasia v0.47 SHH Zornitza Stark Publications for gene: SHH were set to
Holoprosencephaly and septo-optic dysplasia v0.46 SHH Zornitza Stark Mode of inheritance for gene: SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.45 SHH Teresa Zhao reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 22791840, 19057928; Phenotypes: 1. Holoprosencephaly 3 (MIM#142945), AD, 2. Microphthalmia with coloboma 5 (MIM#611638), AD, 3. Schizencephaly (MIM#269160), 4. Single median maxillary central incisor (MIM#147250) AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.45 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Holoprosencephaly and septo-optic dysplasia v0.45 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.45 KMT2D Zornitza Stark Classified gene: KMT2D as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.45 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.44 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 31846209; 31282990; 32773771
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, MIM# 147920
Review for gene: KMT2D was set to GREEN
Added comment: Three case reports of HPE in Kabuki syndrome. Association also observed internally, PMID 32773771.
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v0.43 TDGF1 Zornitza Stark Marked gene: TDGF1 as ready
Holoprosencephaly and septo-optic dysplasia v0.43 TDGF1 Zornitza Stark Gene: tdgf1 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.43 TDGF1 Zornitza Stark Phenotypes for gene: TDGF1 were changed from to Forebrain abnormalities
Holoprosencephaly and septo-optic dysplasia v0.42 TDGF1 Zornitza Stark Publications for gene: TDGF1 were set to
Holoprosencephaly and septo-optic dysplasia v0.41 TDGF1 Zornitza Stark Mode of inheritance for gene: TDGF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.40 TDGF1 Zornitza Stark Classified gene: TDGF1 as Red List (low evidence)
Holoprosencephaly and septo-optic dysplasia v0.40 TDGF1 Zornitza Stark Gene: tdgf1 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.39 TDGF1 Zornitza Stark Tag disputed tag was added to gene: TDGF1.
Holoprosencephaly and septo-optic dysplasia v0.39 TDGF1 Zornitza Stark reviewed gene: TDGF1: Rating: RED; Mode of pathogenicity: None; Publications: 12073012; Phenotypes: Forebrain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.39 STIL Zornitza Stark Marked gene: STIL as ready
Holoprosencephaly and septo-optic dysplasia v0.39 STIL Zornitza Stark Gene: stil has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.39 STIL Zornitza Stark Phenotypes for gene: STIL were changed from to Microcephaly 7, primary, autosomal recessive, MIM# 612703
Holoprosencephaly and septo-optic dysplasia v0.38 STIL Zornitza Stark Publications for gene: STIL were set to
Holoprosencephaly and septo-optic dysplasia v0.37 STIL Zornitza Stark Mode of inheritance for gene: STIL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Holoprosencephaly and septo-optic dysplasia v0.36 STIL Zornitza Stark Classified gene: STIL as Red List (low evidence)
Holoprosencephaly and septo-optic dysplasia v0.36 STIL Zornitza Stark Gene: stil has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.35 STIL Zornitza Stark reviewed gene: STIL: Rating: RED; Mode of pathogenicity: None; Publications: 25218063; Phenotypes: Microcephaly 7, primary, autosomal recessive, MIM# 612703; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Holoprosencephaly and septo-optic dysplasia v0.35 HESX1 Zornitza Stark Marked gene: HESX1 as ready
Holoprosencephaly and septo-optic dysplasia v0.35 HESX1 Zornitza Stark Gene: hesx1 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.35 HESX1 Zornitza Stark Phenotypes for gene: HESX1 were changed from to Septooptic dysplasia, MIM# 182230
Holoprosencephaly and septo-optic dysplasia v0.34 HESX1 Zornitza Stark Mode of inheritance for gene: HESX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Holoprosencephaly and septo-optic dysplasia v0.33 HESX1 Zornitza Stark reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Septooptic dysplasia, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Holoprosencephaly and septo-optic dysplasia v0.33 GLI3 Zornitza Stark Marked gene: GLI3 as ready
Holoprosencephaly and septo-optic dysplasia v0.33 GLI3 Zornitza Stark Gene: gli3 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.33 GLI3 Zornitza Stark Phenotypes for gene: GLI3 were changed from to Pallister-Hall syndrome, MIM# 146510
Holoprosencephaly and septo-optic dysplasia v0.32 GLI3 Zornitza Stark Publications for gene: GLI3 were set to
Holoprosencephaly and septo-optic dysplasia v0.31 GLI3 Zornitza Stark Mode of inheritance for gene: GLI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.30 GLI3 Zornitza Stark Classified gene: GLI3 as Red List (low evidence)
Holoprosencephaly and septo-optic dysplasia v0.30 GLI3 Zornitza Stark Gene: gli3 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.29 GLI3 Zornitza Stark reviewed gene: GLI3: Rating: RED; Mode of pathogenicity: None; Publications: 24736735; Phenotypes: Pallister-Hall syndrome, MIM# 146510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.29 DLL1 Zornitza Stark Marked gene: DLL1 as ready
Holoprosencephaly and septo-optic dysplasia v0.29 DLL1 Zornitza Stark Gene: dll1 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.29 DLL1 Zornitza Stark Phenotypes for gene: DLL1 were changed from to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709
Holoprosencephaly and septo-optic dysplasia v0.28 DLL1 Zornitza Stark Publications for gene: DLL1 were set to
Holoprosencephaly and septo-optic dysplasia v0.27 DLL1 Zornitza Stark Mode of inheritance for gene: DLL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.26 DLL1 Zornitza Stark Classified gene: DLL1 as Red List (low evidence)
Holoprosencephaly and septo-optic dysplasia v0.26 DLL1 Zornitza Stark Gene: dll1 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.25 DLL1 Zornitza Stark reviewed gene: DLL1: Rating: RED; Mode of pathogenicity: None; Publications: 31353024; Phenotypes: Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.25 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Holoprosencephaly and septo-optic dysplasia v0.25 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.25 CHD7 Zornitza Stark Classified gene: CHD7 as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.25 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.24 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Expert list
Mode of inheritance for gene: CHD7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHD7 were set to 11562938; 28805615; 20104611; 17001700
Phenotypes for gene: CHD7 were set to Smith-Lemli-Opitz syndrome, 270400; alobar holoprosencephaly (HPE)
Review for gene: CHD7 was set to GREEN
Added comment: Reports of HPE phenotype.
Sources: Expert list
Holoprosencephaly and septo-optic dysplasia v0.23 RAD21 Zornitza Stark Marked gene: RAD21 as ready
Holoprosencephaly and septo-optic dysplasia v0.23 RAD21 Zornitza Stark Gene: rad21 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.23 RAD21 Zornitza Stark Classified gene: RAD21 as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.23 RAD21 Zornitza Stark Gene: rad21 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.22 RAD21 Zornitza Stark gene: RAD21 was added
gene: RAD21 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAD21 were set to 31334757
Phenotypes for gene: RAD21 were set to Holoprosencephaly; Septo-optic dysplasia
Review for gene: RAD21 was set to GREEN
Added comment: Three individuals reported with variants in this gene and HPE phenotype. Note paper reports variants in other cohesinopathy genes also.
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v0.21 SMC1A Zornitza Stark Marked gene: SMC1A as ready
Holoprosencephaly and septo-optic dysplasia v0.21 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.21 SMC1A Zornitza Stark Classified gene: SMC1A as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.21 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.20 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: SMC1A was set to Other
Publications for gene: SMC1A were set to 31334757; 28166369
Phenotypes for gene: SMC1A were set to Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044
Review for gene: SMC1A was set to GREEN
Added comment: Multiple females reported with EE/HPE and LOF variants in this gene. Note gene also causes CdL.
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v0.19 STAG2 Zornitza Stark Marked gene: STAG2 as ready
Holoprosencephaly and septo-optic dysplasia v0.19 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.19 STAG2 Zornitza Stark Phenotypes for gene: STAG2 were changed from Holoprosencephaly to Holoprosencephaly 13, X-linked, MIM# 301043
Holoprosencephaly and septo-optic dysplasia v0.18 STAG2 Zornitza Stark Classified gene: STAG2 as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.18 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.17 STAG2 Zornitza Stark gene: STAG2 was added
gene: STAG2 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: STAG2 was set to Other
Publications for gene: STAG2 were set to 31334757
Phenotypes for gene: STAG2 were set to Holoprosencephaly
Review for gene: STAG2 was set to GREEN
Added comment: Six females reported with LoF variants in this gene and HPE spectrum disorders.
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v0.16 NODAL Zornitza Stark Tag disputed tag was added to gene: NODAL.
Holoprosencephaly and septo-optic dysplasia v0.16 NODAL Zornitza Stark Marked gene: NODAL as ready
Holoprosencephaly and septo-optic dysplasia v0.16 NODAL Zornitza Stark Gene: nodal has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.16 NODAL Zornitza Stark Phenotypes for gene: NODAL were changed from to Heterotaxy, visceral, 5 (MIM#270100)
Holoprosencephaly and septo-optic dysplasia v0.15 NODAL Zornitza Stark Publications for gene: NODAL were set to
Holoprosencephaly and septo-optic dysplasia v0.14 NODAL Zornitza Stark Mode of inheritance for gene: NODAL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.13 NODAL Zornitza Stark Classified gene: NODAL as Red List (low evidence)
Holoprosencephaly and septo-optic dysplasia v0.13 NODAL Zornitza Stark Gene: nodal has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.12 NODAL Zornitza Stark reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: None; Publications: 9354794, 19064609; Phenotypes: Heterotaxy, visceral, 5 (MIM#270100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.12 PPP1R12A Zornitza Stark changed review comment from: Emerging evidence.; to: 12 unrelated individuals now published.
Holoprosencephaly and septo-optic dysplasia v0.12 PPP1R12A Zornitza Stark edited their review of gene: PPP1R12A: Changed rating: GREEN; Changed publications: 31883643
Holoprosencephaly and septo-optic dysplasia v0.12 GAS1 Zornitza Stark Phenotypes for gene: GAS1 were changed from Holoprosencephaly to Holoprosencephaly
Holoprosencephaly and septo-optic dysplasia v0.11 GAS1 Zornitza Stark Marked gene: GAS1 as ready
Holoprosencephaly and septo-optic dysplasia v0.11 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.11 GAS1 Zornitza Stark Publications for gene: GAS1 were set to
Holoprosencephaly and septo-optic dysplasia v0.11 GAS1 Zornitza Stark Phenotypes for gene: GAS1 were changed from to Holoprosencephaly
Holoprosencephaly and septo-optic dysplasia v0.10 GAS1 Zornitza Stark Mode of inheritance for gene: GAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.9 GAS1 Zornitza Stark Classified gene: GAS1 as Red List (low evidence)
Holoprosencephaly and septo-optic dysplasia v0.9 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.8 GAS1 Zornitza Stark reviewed gene: GAS1: Rating: RED; Mode of pathogenicity: None; Publications: 21842183, 20583177; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.8 CNOT1 Alison Yeung Marked gene: CNOT1 as ready
Holoprosencephaly and septo-optic dysplasia v0.8 CNOT1 Alison Yeung Gene: cnot1 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.8 CNOT1 Alison Yeung Classified gene: CNOT1 as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.8 CNOT1 Alison Yeung Gene: cnot1 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.7 CNOT1 Alison Yeung gene: CNOT1 was added
gene: CNOT1 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to PMID: 31006513
Phenotypes for gene: CNOT1 were set to HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS; HPE12; OMIM# 618500
Review for gene: CNOT1 was set to GREEN
gene: CNOT1 was marked as current diagnostic
Added comment: Three unrelated individuals reported. Functional studies in mouse
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v0.6 Zornitza Stark Panel name changed from Holoprosencephaly and septo-optic dysplasia_VCGS to Holoprosencephaly and septo-optic dysplasia
Panel types changed to Victorian Clinical Genetics Services
Holoprosencephaly and septo-optic dysplasia v0.5 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Holoprosencephaly and septo-optic dysplasia v0.5 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.5 PPP1R12A Zornitza Stark Publications for gene: PPP1R12A were set to
Holoprosencephaly and septo-optic dysplasia v0.4 PPP1R12A Zornitza Stark Classified gene: PPP1R12A as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.4 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.3 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Holoprosencephaly and septo-optic dysplasia v0.3 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.3 PPP1R12A Zornitza Stark Phenotypes for gene: PPP1R12A were changed from to Intellectual disability; holoprosencephaly; disorder of sex development
Holoprosencephaly and septo-optic dysplasia v0.2 PPP1R12A Zornitza Stark Mode of inheritance for gene: PPP1R12A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.1 PPP1R12A Zornitza Stark Classified gene: PPP1R12A as Amber List (moderate evidence)
Holoprosencephaly and septo-optic dysplasia v0.1 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.0 PPP1R12A Zornitza Stark reviewed gene: PPP1R12A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, holoprosencephaly, disorder of sex development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.0 ZIC2 Zornitza Stark gene: ZIC2 was added
gene: ZIC2 was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZIC2 was set to Unknown
Holoprosencephaly and septo-optic dysplasia v0.0 TGIF1 Zornitza Stark gene: TGIF1 was added
gene: TGIF1 was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGIF1 was set to Unknown
Holoprosencephaly and septo-optic dysplasia v0.0 TDGF1 Zornitza Stark gene: TDGF1 was added
gene: TDGF1 was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TDGF1 was set to Unknown
Holoprosencephaly and septo-optic dysplasia v0.0 STIL Zornitza Stark gene: STIL was added
gene: STIL was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STIL was set to Unknown
Holoprosencephaly and septo-optic dysplasia v0.0 SIX3 Zornitza Stark gene: SIX3 was added
gene: SIX3 was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX3 was set to Unknown
Holoprosencephaly and septo-optic dysplasia v0.0 SHH Zornitza Stark gene: SHH was added
gene: SHH was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SHH was set to Unknown
Holoprosencephaly and septo-optic dysplasia v0.0 PTCH1 Zornitza Stark gene: PTCH1 was added
gene: PTCH1 was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTCH1 was set to Unknown
Holoprosencephaly and septo-optic dysplasia v0.0 PPP1R12A Zornitza Stark gene: PPP1R12A was added
gene: PPP1R12A was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPP1R12A was set to Unknown
Holoprosencephaly and septo-optic dysplasia v0.0 NODAL Zornitza Stark gene: NODAL was added
gene: NODAL was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NODAL was set to Unknown
Holoprosencephaly and septo-optic dysplasia v0.0 HESX1 Zornitza Stark gene: HESX1 was added
gene: HESX1 was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HESX1 was set to Unknown
Holoprosencephaly and septo-optic dysplasia v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLI3 was set to Unknown
Holoprosencephaly and septo-optic dysplasia v0.0 GLI2 Zornitza Stark gene: GLI2 was added
gene: GLI2 was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLI2 was set to Unknown
Holoprosencephaly and septo-optic dysplasia v0.0 GAS1 Zornitza Stark gene: GAS1 was added
gene: GAS1 was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GAS1 was set to Unknown
Holoprosencephaly and septo-optic dysplasia v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR1 was set to Unknown
Holoprosencephaly and septo-optic dysplasia v0.0 FGF8 Zornitza Stark gene: FGF8 was added
gene: FGF8 was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF8 was set to Unknown
Holoprosencephaly and septo-optic dysplasia v0.0 DLL1 Zornitza Stark gene: DLL1 was added
gene: DLL1 was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DLL1 was set to Unknown
Holoprosencephaly and septo-optic dysplasia v0.0 DISP1 Zornitza Stark gene: DISP1 was added
gene: DISP1 was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DISP1 was set to Unknown
Holoprosencephaly and septo-optic dysplasia v0.0 CDON Zornitza Stark gene: CDON was added
gene: CDON was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDON was set to Unknown
Holoprosencephaly and septo-optic dysplasia v0.0 Zornitza Stark Added panel Holoprosencephaly and septo-optic dysplasia_VCGS