BCS1L

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  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)

• Bjornstad syndrome

  0.82

• Björnstad syndrome

  0.82

• GRACILE syndrome

  0.82

• Isolated CoQ-cytochrome C reductase deficiency

  0.79

• mitochondrial complex III deficiency nuclear type 1

  0.72

• Leigh syndrome

  0.69

• Renal tubulopathy - encephalopathy - liver failure

  0.67

• mitochondrial complex III deficiency

  0.64

• inborn mitochondrial metabolism disorder

  0.60

• mitochondrial disease

  0.60

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

Protein function (UniProt)

Diseases associated with BCS1L

Curated MONDO disease pages that list BCS1L among their top associated genes.

• inborn mitochondrial metabolism disorderRare
• Leigh syndromeRare