ALDH7A1

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

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Neurotransmitter disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• pyridoxine-dependent epilepsy

  0.79

• pyridoxine-dependent epilepsy caused by ALDH7A1 mutant

  0.76

• hereditary disease

  0.54

• Seizure

  0.53

• epilepsy

  0.44

• Ventriculomegaly

  0.43

• adult-onset autosomal dominant demyelinating leukodystrophy

  0.34

• Neonatal seizure

  0.34

• developmental and epileptic encephalopathy, 13

  0.33

• osteoporosis

  0.30

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

Protein function (UniProt)