MPZ

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary neuropathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Arthrogryposis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Inherited white matter disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• White matter disorders and cerebral calcification - narrow panel

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Charcot-Marie-Tooth disease type 1B

  0.83

• Dejerine-Sottas syndrome

  0.83

• Charcot-Marie-Tooth disease type 2I

  0.80

• Autosomal dominant Charcot-Marie-Tooth disease type 2I

  0.77

• Charcot-Marie-Tooth disease type 2J

  0.74

• neuropathy

  0.73

• Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

  0.72

• Charcot-Marie-Tooth disease dominant intermediate D

  0.70

• Roussy-Lévy syndrome

  0.69

• Autosomal dominant Charcot-Marie-Tooth disease type 2J

  0.68

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

Protein function (UniProt)

Diseases associated with MPZ

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

• Charcot-Marie-Tooth diseaseRare