ALDH1A2 aldehyde dehydrogenase 1 family member A2

Gene info

Synonyms

RALDH2

Previous symbol

None

External ID

HGNC: 15472
Entrez Gene: 8854
Ensembl: ENSG00000128918
UCSC: uc002aex.4
OMIM: 603687
UniProtKB: O94788

Disease info

Disease

None

CHD Phenotype

  • Tetralogy of fallot

Extra Cardiac Phenotype

Diaphragmatic eventration, pulmonary hypoplasia, dysmorphic features, absent thymus, talipes equinovarus

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Homozygous knockout mouse has CHD

MGI ID

107928

Variant info

Clinvar

ALDH1A2

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

No variant passing our criteria was found for ALDH1A2.

Selected References

None