| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Lipodystrophy_Lipoatrophy v1.24 | NOTCH3 | Zornitza Stark Marked gene: NOTCH3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.24 | NOTCH3 | Zornitza Stark Gene: notch3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.24 | NOTCH3 | Zornitza Stark Classified gene: NOTCH3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.24 | NOTCH3 | Zornitza Stark Gene: notch3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.23 | NOTCH3 |
Zornitza Stark gene: NOTCH3 was added gene: NOTCH3 was added to Lipodystrophy_Lipoatrophy. Sources: Literature Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH3 were set to 39652711 Phenotypes for gene: NOTCH3 were set to Lipodystrophy, familial partial, type 1, MIM#608600 Review for gene: NOTCH3 was set to AMBER Added comment: Three families reported with novel missense variants in NOTCH3 and partial lipodystrophy. Variant segregated with phenotype in 4 affected individuals of one family but no additional supportive data presented. Some functional data to suggest GoF mechanism. Sources: Literature |
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