PMP2

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

Disease associations (Open Targets)

• Charcot-Marie-Tooth disease type 1G

  0.72

• peripheral neuropathy

  0.34

• hereditary disease

  0.33

• Charcot-Marie-Tooth disease

  0.19

• Charcot-Marie-Tooth disease type 1E

  0.12

• Hashimoto thyroiditis

  0.08

• benign adult familial myoclonic epilepsy

  0.07

• developmental and/or epileptic encephalopathy with spike-wave activation in sleep

  0.06

• schizophrenia

  0.06

• hereditary neuropathy with liability to pressure palsies

  0.06

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

Protein function (UniProt)