SDHAF1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorder with complex II deficiency

  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

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Disease associations (Open Targets)

• mitochondrial complex II deficiency, nuclear type 1

  0.75

• mitochondrial complex 2 deficiency, nuclear type 2

  0.74

• mitochondrial disease

  0.55

• inborn mitochondrial metabolism disorder

  0.55

• neurodegenerative disease

  0.40

• hereditary disease

  0.19

• lysosomal storage disease

  0.14

• Leukoencephalopathy

  0.02

• infection

  0.01

• Spastic paraparesis

  0.01

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

Protein function (UniProt)