BTD

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

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Ketotic hypoglycaemia

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Optic neuropathy

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• biotinidase deficiency

  0.84

• hereditary disease

  0.54

• inborn vitamin metabolic disorder

  0.46

• Leber hereditary optic neuropathy

  0.38

• optic atrophy

  0.37

• hereditary optic atrophy

  0.37

• Optic neuropathy

  0.27

• Leigh syndrome

  0.19

• Global developmental delay

  0.15

• Intellectual disability

  0.14

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

Protein function (UniProt)