RNASEH2B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

+11 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Aicardi-Goutières syndrome

  0.81

• Aicardi-Goutieres syndrome 2

  0.77

• Aicardi-Goutieres syndrome

  0.65

• Abnormality of the skeletal system

  0.56

• benign prostatic hyperplasia

  0.55

• hereditary spastic paraplegia

  0.43

• type 1 interferonopathy

  0.37

• autism spectrum disorder

  0.37

• RNASEH2B-related type 1 interferonopathy

  0.37

• RNASEH2B-related hereditary spastic paraplegia

  0.37

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

Protein function (UniProt)