BOLA3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  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 disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Pyruvate dehydrogenase (PDH) deficiency

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• multiple mitochondrial dysfunctions syndrome 2

  0.81

• Fatal multiple mitochondrial dysfunction syndrome type 2

  0.79

• Fatal multiple mitochondrial dysfunction syndrome

  0.74

• mitochondrial disease

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• hereditary disease

  0.19

• prostate carcinoma

  0.02

• prostate cancer

  0.02

• Familial prostate cancer

  0.02

• gastric cancer

  0.02

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

Protein function (UniProt)