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  3. TRPC3
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Genetic Epilepsy

Gene: TRPC3

Red List (low evidence)
TRPC3 (transient receptor potential cation channel subfamily C member 3)
EnsemblGeneIds (GRCh38): ENSG00000138741
EnsemblGeneIds (GRCh37): ENSG00000138741
OMIM: 602345, Gene2Phenotype
TRPC3 is in 3 panels

2 reviews

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

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
Created: 10 Oct 2021, 11:06 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Spinocerebellar ataxia 41 - 616410

Publications

Created: 10 Oct 2021, 11:06 p.m.

Panel version: 0.1276

Bryony Thompson (Royal Melbourne Hospital)

I don't know

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
Created: 17 Apr 2020, 4:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 41 MIM#616410

Publications

Mode of pathogenicity
Other

Created: 17 Apr 2020, 4:43 a.m.

Panel version: Imported from Mendeliome panel version 0.2302

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Expert list
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Spinocerebellar ataxia 41 - 616410
OMIM
602345
Clinvar variants
Variants in TRPC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trpc3 has been classified as Red List (Low Evidence).

11 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trpc3 has been classified as Red List (Low Evidence).

10 Oct 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Krithika Murali (Victorian Clinical Genetics Services)

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