TRPC5

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber TRPC5 in Mendeliome


Version 1.1902

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, TRPC5-related

Amber TRPC5 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, TRPC5-related