GJB6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ectodermal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Ectodermal dysplasia without a known gene mutation

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Ichthyosis and erythrokeratoderma

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Monogenic hearing loss

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Palmoplantar keratoderma and erythrokeratodermas

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Familial Meniere Disease

Disease associations (Open Targets)

• Clouston syndrome

  0.83

• autosomal recessive nonsyndromic hearing loss 1B

  0.68

• autosomal dominant nonsyndromic hearing loss 3B

  0.60

• hearing loss, autosomal recessive

  0.57

• autosomal recessive nonsyndromic hearing loss 1A

  0.54

• X-linked hypohidrotic ectodermal dysplasia

  0.54

• neurodegenerative disease

  0.45

• X-linked mixed deafness with perilymphatic gusher

  0.41

• X-linked mixed hearing loss with perilymphatic gusher

  0.41

• autosomal dominant nonsyndromic hearing loss

  0.40

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

Protein function (UniProt)