PanelApp (test)
  1. Genes and Genomic Entities
  2. TRPA1:Ensemblv115

TRPA1:Ensemblv115

transient receptor potential cation channel subfamily A member 1
OMIM: 604775, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red TRPA1 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Red
Phenotypes
  • Episodic pain syndrome, familial, 1
  • HSAN/SFN

Amber TRPA1 in Pain syndromes


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Genomics England PanelApp
  • Expert Review Amber
Phenotypes
  • Familial episodic pain syndrome type I
  • Episodic pain syndrome, familial, 615040