ETFDH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Hyperammonaemia

  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)

• multiple acyl-CoA dehydrogenase deficiency

  0.85

• glutaric acidemia IIc

  0.70

• glutaric aciduria

  0.67

• hereditary disease

  0.52

• Abnormality of metabolism/homeostasis

  0.41

• multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

  0.37

• multiple acyl-CoA dehydrogenase deficiency, mild type

  0.37

• hypertrophic cardiomyopathy

  0.26

• myopathy

  0.15

• Aganglionic megacolon

  0.12

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

Protein function (UniProt)