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| Mendeliome v0.2303 | TRPC3 | Bryony Thompson Marked gene: TRPC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2303 | TRPC3 | Bryony Thompson Gene: trpc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2303 | TRPC3 | Bryony Thompson Classified gene: TRPC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2303 | TRPC3 | Bryony Thompson Gene: trpc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2302 | TRPC3 |
Bryony Thompson gene: TRPC3 was added gene: TRPC3 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: TRPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPC3 were set to 25477146; 19351902 Phenotypes for gene: TRPC3 were set to Spinocerebellar ataxia 41 MIM#616410 Mode of pathogenicity for gene: TRPC3 was set to Other Review for gene: TRPC3 was set to AMBER Added comment: A heterozygous gain-of function missense has been identified in a 40-year-old man with adult-onset spinocerebellar ataxia. A mouse model of dominant cerebellar ataxia, termed 'moonwalker', contains a gain-of-function variant in this gene. Sources: Expert list |
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