PMP22

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Hereditary neuropathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Monogenic hearing loss

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Inherited white matter disorders

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• White matter disorders and cerebral calcification - narrow panel

  Unknown

Disease associations (Open Targets)

• Charcot-Marie-Tooth disease type 1A

  0.82

• Dejerine-Sottas syndrome

  0.81

• Charcot-Marie-Tooth disease type 1E

  0.75

• hereditary neuropathy with liability to pressure palsies

  0.75

• Charcot-Marie-Tooth disease type 3

  0.64

• Guillain-Barre syndrome, familial

  0.60

• Roussy-Lévy syndrome

  0.59

• Charcot-Marie-Tooth disease type 1

  0.57

• Charcot-Marie-Tooth disease

  0.56

• hereditary disease

  0.49

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

Protein function (UniProt)

Diseases associated with PMP22

Curated MONDO disease pages that list PMP22 among their top associated genes.

• placental abruptionRare
• Charcot-Marie-Tooth diseaseRare