ALDH1A2

aldehyde dehydrogenase 1 family member A2
OMIM: 603687, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red ALDH1A2 in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.90

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Tetralogy of Fallot (Pavan (2009) BMC Med Genet 10, 113)
Green ALDH1A2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diaphragmatic hernia 4, with cardiovascular defects, OMIM:620025
Green ALDH1A2 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia
    Red ALDH1A2 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert