SCARB2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Proteinuric renal disease

  BIALLELIC, autosomal or pseudoautosomal

• Unexplained kidney failure in young people

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

Disease associations (Open Targets)

• action myoclonus-renal failure syndrome

  0.78

• Action myoclonus - renal failure syndrome

  0.64

• Progressive myoclonic epilepsy

  0.56

• hereditary disease

  0.47

• Rolandic epilepsy

  0.42

• self-limited epilepsy with centrotemporal spikes

  0.42

• Unverricht-Lundborg disease

  0.38

• Unverricht-Lundborg syndrome

  0.38

• progressive myoclonus epilepsy

  0.38

• Gaucher disease type 1

  0.38

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

Protein function (UniProt)