ALDH1A2

aldehyde dehydrogenase 1 family member A2
OMIM: 603687, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ALDH1A2 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025

Green ALDH1A2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025

Red ALDH1A2 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Tetralogy of Fallot

Green ALDH1A2 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025

Red ALDH1A2 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Tetralogy of Fallot