KLHL24

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Epidermolysis bullosa

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Epidermolysis bullosa and congenital skin fragility

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hypertrophic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• epidermolysis bullosa simplex 6, generalized, with scarring and hair loss

  0.73

• cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies

  0.70

• cicatricial alopecia

  0.62

• Basal epidermolysis bullosa simplex

  0.55

• Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

  0.48

• atrial fibrillation

  0.37

• esophageal disorder

  0.34

• gastroesophageal reflux disease

  0.30

• hypertensive disorder

  0.24

• COVID-19

  0.24

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

Protein function (UniProt)