GJC2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• hypomyelinating leukodystrophy 2

  0.79

• Pelizaeus-Merzbacher-like disease due to GJC2 mutation

  0.79

• Autosomal recessive spastic paraplegia type 44

  0.76

• lymphatic malformation 3

  0.74

• hereditary spastic paraplegia 44

  0.69

• Pelizaeus-Merzbacher-like disease

  0.68

• Spastic paraplegia

  0.55

• Milroy disease

  0.54

• hereditary disease

  0.47

• leukodystrophy

  0.37

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

Protein function (UniProt)