ALDH1A3

aldehyde dehydrogenase 1 family member A3
OMIM: 600463, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green ALDH1A3 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, isolated 8, MIM# 615113

Green ALDH1A3 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, isolated 8, MIM# 615113

Green ALDH1A3 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microphthalmia, isolated 8, 615113 (3)

Green ALDH1A3 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, isolated 8, MIM# 615113

Green ALDH1A3 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microphthalmia, isolated 8, 615113 (3)

Red ALDH1A3 in Vitamin metabolism disorders


Level 2: Metabolic disorders
Version 1.6

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Isolated microphthalmia 8 MONDO:0014050
    • Other disorders of vitamin metabolism