KCNE1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Long QT syndrome

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

• Catecholaminergic polymorphic VT

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Familial Meniere Disease

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Short QT syndrome

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

• long QT syndrome 5

  0.80

• Jervell and Lange-Nielsen syndrome 2

  0.77

• Jervell and Lange-Nielsen syndrome

  0.66

• familial long QT syndrome

  0.63

• Romano-Ward syndrome

  0.59

• Prolonged QT interval

  0.57

• Abnormality of the cardiovascular system

  0.52

• Jervell and Lange-Nielsen syndrome 1

  0.42

• Sensorineural hearing impairment

  0.34

• autoimmune disorder of central nervous system

  0.33

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

Protein function (UniProt)