Unexplained kidney failure in young people
Gene: TRPC6

TRPC6 (transient receptor potential cation channel subfamily C member 6)
EnsemblGeneIds (GRCh38): ENSG00000137672
EnsemblGeneIds (GRCh37): ENSG00000137672
OMIM: 603652, Gene2Phenotype
TRPC6 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least six variants reported
Created: 5 Aug 2016, 12:19 p.m.

Comment on list classification: Promoted from Red to Green because this gene is Green in Version 1 of the Proteinuric renal disease gene panel
Created: 17 Jun 2016, 9:28 a.m.

Created: 17 Jun 2016, 9:28 a.m.

Panel version: 0.32

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Emory Genetics Laboratory
UKGTN
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Eligibility statement prior genetic testing

Phenotypes

Glomerulosclerosis, focal segmental, 2 603965

OMIM

603652

Clinvar variants

Variants in TRPC6

Penetrance

Complete

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TRPC6 were changed from Glomerulosclerosis, focal segmental, 2 603965 to Glomerulosclerosis, focal segmental, 2 603965

17 Aug 2016, Gel status: 4