TRPC5

transient receptor potential cation channel subfamily C member 5
OMIM: 300334, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red TRPC5 in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • TRPC5-related neurodevelopmental disorder
    Amber TRPC5 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • DD-Gene2Phenotype
    Phenotypes
    • TRPC5-related neurodevelopmental disorder