NDUFS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorder with complex I deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

+5 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• mitochondrial complex I deficiency

  0.76

• mitochondrial complex I deficiency, nuclear type 6

  0.66

• type 2 diabetes mellitus

  0.61

• inborn mitochondrial metabolism disorder

  0.60

• mitochondrial disease

  0.60

• Parkinson disease

  0.59

• diabetes mellitus

  0.58

• mitochondrial complex I deficiency, nuclear type 1

  0.57

• Leber-like hereditary optic neuropathy, autosomal recessive 2

  0.56

• Leigh syndrome

  0.56

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

Protein function (UniProt)