Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Lipodystrophy_Lipoatrophy v0.4 | LIPE | Zornitza Stark Marked gene: LIPE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lipodystrophy_Lipoatrophy v0.4 | LIPE | Zornitza Stark Gene: lipe has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lipodystrophy_Lipoatrophy v0.4 | LIPE | Zornitza Stark Phenotypes for gene: LIPE were changed from to Lipodystrophy, familial partial, type 6, 615980 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lipodystrophy_Lipoatrophy v0.3 | LIPE | Zornitza Stark Publications for gene: LIPE were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lipodystrophy_Lipoatrophy v0.2 | LIPE | Zornitza Stark Mode of inheritance for gene: LIPE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lipodystrophy_Lipoatrophy v0.1 | LIPE |
Kristin Rigbye changed review comment from: LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM. There are 3 unrelated cases of patients with partial lipodystrophy with different loss of function variants in the LIPE gene.; to: LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM. There are 3 unrelated cases of patients with partial lipodystrophy with different loss of function variants in the LIPE gene. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lipodystrophy_Lipoatrophy v0.1 | LIPE | Kristin Rigbye reviewed gene: LIPE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27862896, 25475467, 24848981; Phenotypes: Lipodystrophy, familial partial, type 6, 615980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lipodystrophy_Lipoatrophy v0.0 | LIPE |
Zornitza Stark gene: LIPE was added gene: LIPE was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LIPE was set to Unknown |