IGHMBP2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric motor neuronopathies

  BIALLELIC, autosomal or pseudoautosomal

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• autosomal recessive distal spinal muscular atrophy 1

  0.84

• Spinal muscular atrophy with respiratory distress type 1

  0.81

• Charcot-Marie-Tooth disease axonal type 2S

  0.79

• hereditary disease

  0.54

• neurodegenerative disease

  0.52

• Charcot-Marie-Tooth disease

  0.50

• distal hereditary motor neuropathy

  0.48

• spinal muscular atrophy

  0.41

• peripheral neuropathy

  0.41

• neurodevelopmental disorder

  0.41

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

Protein function (UniProt)