KCNJ10

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

• Renal tubulopathies

  BIALLELIC, autosomal or pseudoautosomal

+4 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• EAST syndrome

  0.84

• autosomal recessive nonsyndromic hearing loss 4

  0.63

• Pendred syndrome

  0.59

• episodic kinesigenic dyskinesia

  0.45

• hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

  0.41

• episodic kinesigenic dyskinesia 1

  0.39

• hereditary disease

  0.38

• nonsyndromic genetic hearing loss

  0.37

• cerebellar ataxia

  0.35

• Sensorineural hearing impairment

  0.33

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

Protein function (UniProt)