Groopman et al 2019 - Genes with diagnostic variants
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

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: TRPC6; Inheritance: AD; Clinical diagnosis: Glomerulopathy; Nephropathy of unknown origin; Genetic diagnosis: Glomerulosclerosis focal segmental 2; OMIM phenotype MIM no.: 603965; Number of cases: 8
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.

Panel Version: 0.4

Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Expert review green
Literature

Phenotypes

MIM 603965
Nephropathy of unknown origin
Glomerulopathy
Glomerulosclerosis focal segmental 2

OMIM

603652

Clinvar variants

Variants in TRPC6

Penetrance

None

Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to TRPC6. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: TRPC6 was added gene: TRPC6 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: TRPC6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TRPC6 were set to MIM 603965; Nephropathy of unknown origin; Glomerulopathy; Glomerulosclerosis focal segmental 2

Groopman et al 2019 - Genes with diagnostic variants Gene: TRPC6