MYH14

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Monogenic hearing loss

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Non-syndromic familial congenital anorectal malformations

  BIALLELIC, autosomal or pseudoautosomal

• Arthrogryposis

• Congenital myopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• autosomal dominant nonsyndromic hearing loss 4A

  0.73

• peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

  0.58

• autosomal dominant nonsyndromic hearing loss

  0.48

• nonsyndromic genetic hearing loss

  0.34

• autoimmune disorder of central nervous system

  0.34

• alcohol drinking

  0.31

• urolithiasis

  0.28

• sensorineural hearing loss disorder

  0.25

• disorder of ear

  0.24

• hereditary disease

  0.20

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

Protein function (UniProt)