Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Monogenic Diabetes v0.137 | UNC13A | Zornitza Stark Marked gene: UNC13A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic Diabetes v0.137 | UNC13A | Zornitza Stark Gene: unc13a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic Diabetes v0.137 | UNC13A |
Zornitza Stark gene: UNC13A was added gene: UNC13A was added to Monogenic Diabetes. Sources: Literature Mode of inheritance for gene: UNC13A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UNC13A were set to 40011789 Phenotypes for gene: UNC13A were set to Monogenic diabetes, MONDO:0015967, UNC13A-related Review for gene: UNC13A was set to RED Added comment: Two probands in the GeL 100K dataset with LoF variants and diabetes. No segregation data available. Some supportive mouse data. LoF variants also observed in controls, leading authors to speculate regarding penetrance. Sources: Literature |