TRPV1:Ensemblv115

transient receptor potential cation channel subfamily V member 1
OMIM: 602076, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red TRPV1 in Pain syndromes


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive - MONDO:0009459

Amber TRPV1 in Malignant Hyperthermia Susceptibility


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Literature
  • Expert Review Amber
Phenotypes
  • Malignant hyperthermia susceptibility