GDAP1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Hereditary neuropathy

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Mitochondrial disorders

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Arthrogryposis

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

  0.83

• Charcot-Marie-Tooth disease axonal type 2K

  0.80

• Charcot-Marie-Tooth disease type 4A

  0.80

• Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

  0.71

• Charcot-Marie-Tooth disease recessive intermediate A

  0.71

• autosomal dominant Charcot-Marie-Tooth disease type 2K

  0.66

• Charcot-Marie-Tooth disease

  0.63

• hereditary disease

  0.52

• endometriosis

  0.44

• congenital myopathy 25

  0.42

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

Protein function (UniProt)

Diseases associated with GDAP1

Curated MONDO disease pages that list GDAP1 among their top associated genes.

• Charcot-Marie-Tooth diseaseRare