Ocular coloboma
Gene: ALDH1A3
ALDH1A3 (aldehyde dehydrogenase 1 family member A3)
EnsemblGeneIds (GRCh38): ENSG00000184254
EnsemblGeneIds (GRCh37): ENSG00000184254
OMIM: 600463, Gene2Phenotype
ALDH1A3 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000184254
EnsemblGeneIds (GRCh37): ENSG00000184254
OMIM: 600463, Gene2Phenotype
ALDH1A3 is in 6 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Microphthalmia, isolated 8 615113
- OMIM
- 600463
- Clinvar variants
- Variants in ALDH1A3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
3 Jan 2019, Gel status: 3
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: ALDH1A3 were set to 23591992,24859618
6 Feb 2017, Gel status: 4
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
16 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
16 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
16 Nov 2016, Gel status: 1
Added New Source
Alice Gardham (Genomics England)ALDH1A3 was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen,Literature
16 Nov 2016, Gel status: 0
Created
Alice Gardham (Genomics England)ALDH1A3 was created by agardham