TRPV3

transient receptor potential cation channel subfamily V member 3
OMIM: 607066, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TRPV3 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Olmsted syndrome, MIM# 614594

Green TRPV3 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.132

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Olmsted syndrome, MIM# 614594

Red TRPV3 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Olmsted syndrome 1, MIM# 614594