SURF1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  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

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Disease associations (Open Targets)

• Leigh syndrome

  0.80

• Charcot-Marie-Tooth disease type 4K

  0.75

• mitochondrial complex IV deficiency, nuclear type 22

  0.68

• SURF1-related Charcot-Marie-Tooth disease type 4

  0.67

• Isolated cytochrome C oxidase deficiency

  0.67

• mitochondrial disease

  0.65

• inborn mitochondrial metabolism disorder

  0.60

• leigh syndrome due to mitochondrial complex iv deficiency

  0.57

• mitochondrial complex IV deficiency, nuclear-type

  0.53

• hereditary disease

  0.52

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

Protein function (UniProt)

Diseases associated with SURF1

Curated MONDO disease pages that list SURF1 among their top associated genes.

• inborn mitochondrial metabolism disorderRare
• Leigh syndromeRare