TRPC5

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber TRPC5 in Severe early-onset obesity


Level 2: Endocrinology
Version 7.1
Latest signed off version: v7.0 (12 Aug 2026)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Obesity, HP:0001513
Red TRPC5 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

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 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

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