HTRA2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Early onset dystonia

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

+10 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• 3-methylglutaconic aciduria type 8

  0.81

• 3-methylglutaconic aciduria

  0.58

• Young adult-onset Parkinsonism

  0.47

• Decreased total neutrophil count

  0.46

• neutropenia

  0.46

• hereditary disease

  0.19

• Leigh syndrome

  0.16

• autism

  0.12

• Parkinson disease

  0.12

• breast ductal adenocarcinoma

  0.11

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

Protein function (UniProt)