NARS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• Combined oxidative phosphorylation defect type 24

  0.78

• hearing loss, autosomal recessive

  0.51

• neurodegenerative disease

  0.50

• mitochondrial disease

  0.45

• inborn mitochondrial metabolism disorder

  0.37

• DEND syndrome

  0.37

• Seizure

  0.37

• hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

  0.37

• kidney failure

  0.36

• chronic kidney disease

  0.36

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

Protein function (UniProt)