1. Genes and Genomic Entities
  2. ALDH1B1

ALDH1B1

aldehyde dehydrogenase 1 family member B1
OMIM: 100670, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red ALDH1B1 in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • No OMIM phenotype
    • Succinic semialdehyde dehydrogenase deficiency
    Red ALDH1B1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.169
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • No OMIM phenotype
    • Succinic semialdehyde dehydrogenase deficiency