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| Mendeliome v1.4289 | GPD2 | Bryony Thompson Marked gene: GPD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4289 | GPD2 | Bryony Thompson Gene: gpd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4289 | GPD2 |
Bryony Thompson gene: GPD2 was added gene: GPD2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: GPD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GPD2 were set to 9070847; 12093800 Phenotypes for gene: GPD2 were set to type 2 diabetes mellitus MONDO:0005148 Review for gene: GPD2 was set to RED Added comment: Single case with abnormally low activity of mitochondrial GDH and a rare missense variant. Knockout mouse model has features of both glycerol kinase deficiency and hereditary fructose intolerance. Sources: Literature |
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