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  3. TRPC6
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Proteinuric renal disease

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

4 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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

Created: 4 Feb 2019, 10:41 a.m.

Panel version: 1.16

Daniel Gale (UCL)

Green List (high evidence)

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

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Ellen Thomas (Genomics England Curator)

Comment on list classification: Good evidence
Created: 27 May 2016, 12:52 p.m.
Created: 27 May 2016, 12:52 p.m.

Panel version: 0.144

Maggie Williams (North Bristol NHS Trust)

Green List (high evidence)

Currently on UK diagnostic panel, several VUS, but no positive cases over 300 tested. Gain-of-function mutations
Listed in several reviews
Created: 19 Oct 2015, 3:26 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Familial and sporadic SRNS (adult)

Publications

  • PLOS ONE, Volume 9(7) 2014

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Oct 2015, 3:26 p.m.

Panel version: 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Glomerulosclerosis, focal segmental, 2 #603652
  • Proteinuria
  • FSGS
  • kidney failure
  • Familial and sporadic SRNS (adult)
OMIM
603652
Clinvar variants
Variants in TRPC6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Jun 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TRPC6 were changed from to Glomerulosclerosis, focal segmental, 2 #603652; Proteinuria; FSGS; kidney failure; Familial and sporadic SRNS (adult)

19 Jun 2019, Gel status: 4

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: TRPC6 were set to

4 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TRPC6. Rating Changed from Green List (high evidence) to Green List (high evidence)

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for TRPC6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TRPC6 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing

18 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TRPC6 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing