ALDH6A1

aldehyde dehydrogenase 6 family member A1
OMIM: 603178, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ALDH6A1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105
  • disorder of valine and pyrimidine metabolism

Green ALDH6A1 in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.46

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105
    • disorder of valine and pyrimidine metabolism

    Green ALDH6A1 in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.128

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • NHS GMS
    Phenotypes
    • methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013579