1. Genes and Genomic Entities
  2. TRPC6

TRPC6

transient receptor potential cation channel subfamily C member 6
OMIM: 603652, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red TRPC6 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green TRPC6 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119

Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Emory Genetics Laboratory
    • Eligibility statement prior genetic testing
    Phenotypes
    • Glomerulosclerosis, focal segmental, 2 603965
    Green TRPC6 in Unexplained young onset end-stage renal disease


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Glomerulosclerosis, focal segmental, 2 603965
    Green TRPC6 in Proteinuric renal disease

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review 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)
    Green TRPC6 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    		review 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
    Green TRPC6 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Glomerulosclerosis, focal segmental, 2, 603965