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  3. TRPC6
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Proteinuria

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, multiple families, functional data.
Created: 9 Apr 2022, 7:30 a.m. | Last Modified: 9 Apr 2022, 7:30 a.m.
Panel Version: 0.184

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glomerulosclerosis, focal segmental, 2, MIM# 603965

Publications

Created: 9 Apr 2022, 7:30 a.m.
Last Modified: 9 Apr 2022, 7:30 a.m.
Panel version: 0.184

Details

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

History Filter Activity

9 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trpc6 has been classified as Green List (High Evidence).

9 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRPC6 were set to 15879175; 15924139; 34387384; 33918778; 32509715

9 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRPC6 were set to

9 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRPC6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRPC6 was added gene: TRPC6 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRPC6 was set to Unknown