NDUFAF8

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  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

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Optic neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• mitochondrial complex I deficiency, nuclear type 34

  0.75

• mitochondrial disease

  0.53

• Leigh syndrome

  0.42

• mitochondrial complex I deficiency

  0.37

• obesity disorder

  0.26

• inborn mitochondrial metabolism disorder

  0.18

• hereditary disease

  0.16

• response to xenobiotic stimulus

  0.12

• hypertensive disorder

  0.12

• hyperinsulinemic hypoglycemia, familial, 4

  0.01

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

Protein function (UniProt)