Proteinuric renal disease
Gene: TRPC6
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: TRPC6; Suggested initial gene rating: green; Evidence for inclusion: none provided;Created: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glomerulosclerosis, focal segmental, 2 #603652
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Proteinuria; FSGS; kidney failure
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Good evidenceCreated: 27 May 2016, 12:52 p.m.
Currently on UK diagnostic panel, several VUS, but no positive cases over 300 tested. Gain-of-function mutations
Listed in several reviewsCreated: 19 Oct 2015, 3:26 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial and sporadic SRNS (adult)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: TRPC6 were changed from to Glomerulosclerosis, focal segmental, 2 #603652; Proteinuria; FSGS; kidney failure; Familial and sporadic SRNS (adult)
Publications for gene: TRPC6 were set to
Source NHS GMS was added to TRPC6. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for TRPC6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
TRPC6 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
TRPC6 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing