BCKDHB

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

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Hyperammonaemia

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• maple syrup urine disease type 1B

  0.79

• maple syrup urine disease

  0.77

• maple syrup urine disease type 1A

  0.71

• hereditary disease

  0.49

• Abnormality of the skeletal system

  0.40

• intermediate maple syrup urine disease

  0.37

• intermittent maple syrup urine disease

  0.37

• classic maple syrup urine disease

  0.37

• Abnormality of metabolism/homeostasis

  0.34

• placenta praevia

  0.31

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

Protein function (UniProt)