| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.231 | TRPM3 | Bryony Thompson Marked gene: TRPM3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.231 | TRPM3 | Bryony Thompson Gene: trpm3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.231 | TRPM3 | Bryony Thompson Classified gene: TRPM3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.231 | TRPM3 | Bryony Thompson Gene: trpm3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.230 | TRPM3 |
Bryony Thompson gene: TRPM3 was added gene: TRPM3 was added to Ataxia. Sources: Literature Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPM3 were set to 36648066 Phenotypes for gene: TRPM3 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: TRPM3 was set to GREEN Added comment: PMID 36648066 reports 10 individuals from 9 families with heterozygous de novo (or one inherited) gain-of-function TRPM3 missense variants presenting with a neurodevelopmental disorder. Ataxia is present in ~50% of cases. Functional assays in HEK293T cells show increased basal Ca2+ influx and enhanced response to pregnenolone sulfate reversible by primidone. Sources: Literature |
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