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 5.21
Latest signed off version: v5.0 (30 Apr 2025)

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 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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