ALDH6A1

aldehyde dehydrogenase 6 family member A1
OMIM: 603178, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green ALDH6A1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.643

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3-Hydroxyisobutyric aciduria (Organic acidurias)
  • Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias)
  • Methylmalonate semialdehyde dehydrogenase deficiency 614105
Green ALDH6A1 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.100
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Methylmalonate semialdehyde dehydrogenase deficiency 614105
    • 3-Hydroxyisobutyric aciduria (Organic acidurias)
    • Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias)
    Red ALDH6A1 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.18
    Latest signed off version: v7.0 (30 Apr 2025)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH