1. Panels
  2. Anophthalmia or microphthalmia
  3. ALDH1A3
STRs in panel
Prev Next
Regions in panel
Prev Next

Anophthalmia or microphthalmia

Gene: ALDH1A3

Green List (high evidence)
ALDH1A3 (aldehyde dehydrogenase 1 family member A3)
EnsemblGeneIds (GRCh38): ENSG00000184254
EnsemblGeneIds (GRCh37): ENSG00000184254
OMIM: 600463, Gene2Phenotype
ALDH1A3 is in 6 panels

2 reviews

David FitzPatrick (University of Edinburgh)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert and lit review
Created: 10 May 2016, 11:54 a.m.
Created: 10 May 2016, 11:54 a.m.

Panel version: 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, isolated 8, 615113
OMIM
600463
Clinvar variants
Variants in ALDH1A3
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for ALDH1A3 was changed to BIALLELIC, autosomal or pseudoautosomal

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ALDH1A3 was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen