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| Lipodystrophy_Lipoatrophy v1.17 | EPHX1 | Ain Roesley Classified gene: EPHX1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.17 | EPHX1 | Ain Roesley Gene: ephx1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.16 | EPHX1 | Lauren Rogers reviewed gene: EPHX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary lipodystrophy, MONDO:0020087, EPHX1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.9 | EPHX1 | Zornitza Stark Phenotypes for gene: EPHX1 were changed from Lipoatrophic diabetes to Hereditary lipodystrophy, MONDO:0020087, EPHX1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.8 | EPHX1 | Zornitza Stark edited their review of gene: EPHX1: Changed phenotypes: Hereditary lipodystrophy, MONDO:0020087, EPHX1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.3 | EPHX1 | Zornitza Stark Marked gene: EPHX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.3 | EPHX1 | Zornitza Stark Gene: ephx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.3 | EPHX1 | Zornitza Stark Classified gene: EPHX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.3 | EPHX1 | Zornitza Stark Gene: ephx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.2 | EPHX1 |
Zornitza Stark gene: EPHX1 was added gene: EPHX1 was added to Lipodystrophy_Lipoatrophy. Sources: Literature Mode of inheritance for gene: EPHX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EPHX1 were set to 34342583 Phenotypes for gene: EPHX1 were set to Lipoatrophic diabetes Review for gene: EPHX1 was set to AMBER Added comment: Two individuals reported with de novo variants in this gene and lipoatrophic diabetes characterized by loss of adipose tissue, insulin resistance, and multiple organ dysfunction. CRISPR-Cas9-mediated EPHX1 knockout (KO) abolished adipocyte differentiation and decreased insulin response. This KO also promoted oxidative stress and cellular senescence, an observation confirmed in patient-derived fibroblasts. Sources: Literature |
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