TRPV3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Ichthyosis and erythrokeratoderma

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Palmoplantar keratoderma and erythrokeratodermas

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Palmoplantar keratodermas

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Epidermolysis bullosa and congenital skin fragility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Generalised pustular psoriasis

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Peeling skin syndrome

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• Olmsted syndrome 1

  0.77

• Olmsted syndrome

  0.65

• Non-epidermolytic palmoplantar keratoderma

  0.62

• neurodegenerative disease

  0.41

• autoimmune disorder of central nervous system

  0.32

• hereditary disease

  0.19

• lagophthalmos

  0.18

• Parkinson disease

  0.10

• uncombable hair syndrome

  0.10

• Pain

  0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)