GJB1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Hereditary neuropathy

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Hereditary neuropathy or pain disorder

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Inherited white matter disorders

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• White matter disorders and cerebral calcification - narrow panel

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Intellectual disability

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Monogenic hearing loss

Disease associations (Open Targets)

• Charcot-Marie-Tooth disease X-linked dominant 1

  0.85

• X-linked Charcot-Marie-Tooth disease type 1

  0.78

• Charcot-Marie-Tooth disease

  0.57

• hereditary disease

  0.55

• peripheral neuropathy

  0.54

• Dejerine-Sottas syndrome

  0.44

• neuropathy

  0.41

• hereditary motor and sensory neuropathy

  0.41

• neuropathy, hereditary motor and sensory, type 6A

  0.40

• Charcot-Marie-Tooth disease type 3

  0.39

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

Protein function (UniProt)

Diseases associated with GJB1

Curated MONDO disease pages that list GJB1 among their top associated genes.

• Charcot-Marie-Tooth diseaseRare