GJB3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Ichthyosis and erythrokeratoderma

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Palmoplantar keratoderma and erythrokeratodermas

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Pigmentary skin disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Rare genetic inflammatory skin disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Monogenic hearing loss

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Familial Meniere Disease

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Disease associations (Open Targets)

• erythrokeratodermia variabilis

  0.81

• autosomal dominant nonsyndromic hearing loss

  0.65

• hearing loss, autosomal recessive

  0.55

• autosomal recessive nonsyndromic hearing loss 1A

  0.54

• deafness

  0.54

• erythrokeratoderma

  0.37

• peripheral neuropathy

  0.37

• neuropathy with hearing impairment

  0.37

• nonsyndromic deafness

  0.27

• hearing loss disorder

  0.19

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

Protein function (UniProt)