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Genetic Epilepsy v0.1283 | TRPC3 | Zornitza Stark Marked gene: TRPC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.1283 | TRPC3 | Zornitza Stark Gene: trpc3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.1283 | TRPC3 | Zornitza Stark Classified gene: TRPC3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.1283 | TRPC3 | Zornitza Stark Gene: trpc3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.1276 | TRPC3 |
Krithika Murali gene: TRPC3 was added gene: TRPC3 was added to Genetic Epilepsy. Sources: Expert list,Literature Mode of inheritance for gene: TRPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPC3 were set to 32135163; 25477146 Phenotypes for gene: TRPC3 were set to ?Spinocerebellar ataxia 41 - 616410 Review for gene: TRPC3 was set to RED Added comment: Postulated association with adult-onset cerebellar ataxia based on one case with potentially pathogenic variant (Fogel et al Mov Disorder 2015) Liang et al 2020 Neurosci Letter observed elevated TRPC3 protein expression in focal cortical dysplasia tissue specimens compared with controls. No formal gene-disease association with epilepsy has been reported. Sources: Expert list, Literature |