PanelApp
  1. Genes and Genomic Entities
  2. TRPV1

TRPV1

transient receptor potential cation channel subfamily V member 1
OMIM: 602076, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber TRPV1 in Mendeliome


Version 1.3512

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Susceptibility to malignant hyperthermia

Amber TRPV1 in Rhabdomyolysis and Metabolic Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 1.26

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Exertional heat stroke
    • rhabdomyolysis

    Red TRPV1 in Pain syndromes


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.36

    Component of the following Super Panels:

  • Progressive Neurological Conditions

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

    Amber TRPV1 in Malignant Hyperthermia Susceptibility


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.8

    Component of the following Super Panels:

  • Myopathy Superpanel

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