| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Monogenic Diabetes v1.26 | CNOT1 | chirag patel Classified gene: CNOT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v1.26 | CNOT1 | chirag patel Gene: cnot1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v1.25 | 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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| Monogenic Diabetes v1.25 | CNOT1 | chirag patel Publications for gene: CNOT1 were set to PMID: 31006513 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v1.24 | CNOT1 | chirag patel reviewed gene: CNOT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31006513, 31006510, 39149840, 35481434; Phenotypes: Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v1.0 | CNOT1 | Gene migrated from ENSG00000125107 to ENSG00000125107 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.185 | CNOT1 | chirag patel Marked gene: CNOT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.185 | CNOT1 | chirag patel Gene: cnot1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.185 | chirag patel Copied gene CNOT1 from panel Holoprosencephaly and septo-optic dysplasia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.185 | CNOT1 |
chirag patel gene: CNOT1 was added gene: CNOT1 was added to Monogenic Diabetes. Sources: Expert Review Amber,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 MONDO:0032787 |
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