| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral vascular malformations v0.12 | CNOT3 | Zornitza Stark Phenotypes for gene: CNOT3 were changed from Moya Moya; iIntellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672 to Moya Moya; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v0.11 | CNOT3 | Zornitza Stark Marked gene: CNOT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v0.11 | CNOT3 | Zornitza Stark Gene: cnot3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v0.11 | CNOT3 | Zornitza Stark Phenotypes for gene: CNOT3 were changed from Moya Moya; intellectual disability to Moya Moya; iIntellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v0.8 | CNOT3 | Sue White Classified gene: CNOT3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v0.8 | CNOT3 | Sue White Gene: cnot3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v0.7 | CNOT3 |
Sue White gene: CNOT3 was added gene: CNOT3 was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: CNOT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CNOT3 were set to 31474762 Phenotypes for gene: CNOT3 were set to Moya Moya; intellectual disability Penetrance for gene: CNOT3 were set to Complete Review for gene: CNOT3 was set to AMBER Added comment: 2 families with de novo variants (one nonsense and one missense) in individuals with ID and Moya Moya Sources: Literature |
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