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| Holoprosencephaly and septo-optic dysplasia v2.3 | CNOT1 |
chirag patel changed review comment from: Total of 7 unrelated individuals now reported with holoprosencephaly (6/7), pancreatic agenesis (4/7), and diabetes (5/7 - neonatal 4, adolescence 1). They all have the same rare heterozygous missense variant in CNOT1 (c.1603C>T, p.Arg535Cys). The variant was confirmed to be de novo in 5/7 families, as segregation could not be completed in 2 families. PMID 31006513: Knock‑in mouse model carrying CNOT1 p.Arg535Cys recapitulates holoprosencephaly, pancreatic agenesis and diabetes phenotypes, showing increased SHH expression, but rescue experiment not performed.; to: Total of 7 unrelated individuals now reported with holoprosencephaly (6/7), pancreatic agenesis (4/7), and diabetes (5/7 - neonatal 4, adolescence 1). They all have the same rare heterozygous missense variant in CNOT1 (c.1603C>T, p.Arg535Cys). The variant was confirmed to be de novo in 5/7 families, as segregation could not be completed in 2 families. PMID 31006513: Knock‑in mouse model carrying CNOT1 p.Arg535Cys recapitulates holoprosencephaly, pancreatic agenesis and diabetes phenotypes, showing increased SHH expression, but rescue experiment not performed. Any other variants need to be treated with extreme caution. |
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| Holoprosencephaly and septo-optic dysplasia v2.0 | SHH | Gene migrated from ENSG00000164690 to ENSG00000164690 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.0 | 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 |
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