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  2. Renal and urinary tract disorders
  3. TRPC6
STRs in panel
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Renal and urinary tract disorders

Gene: TRPC6

Green List (high evidence)
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: Imported from End-stage renal disease - childhood onset panel version 0.32

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glomerulosclerosis, focal segmental, 2 603965
OMIM
603652
Clinvar variants
Variants in TRPC6
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment on list classification

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TRPC6 was added gene: TRPC6 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: TRPC6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TRPC6 were set to Glomerulosclerosis, focal segmental, 2