RNASEH1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial DNA maintenance disorder

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

  0.74

• adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

  0.63

• hereditary disease

  0.41

• non-small cell lung carcinoma

  0.07

• viral infectious disease

  0.05

• cancer

  0.05

• restless legs syndrome

  0.05

• infection

  0.04

• movement disorder

  0.04

• neoplasm

  0.04

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

Protein function (UniProt)