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  3. ALDH1A3
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Structural eye disease

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

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

DB Fares-Taie L, .., Ragge N, Rozet JM (2013) .ALDH1A3 mutations cause recessiveanophthalmia and microphthalmia Am J Hum Genet. Feb 7;92(2):265-70: 3 unrelated families with ALDH1A3 variants, more published since (most recently by Patel et al.)
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, isolated 8 615113

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Fares-Taie L, .., Ragge N, Rozet JM (2013) .ALDH1A3 mutations cause recessiveanophthalmia and microphthalmia Am J Hum Genet. Feb 7;92(2):265-70: 3 unrelated families with ALDH1A3 variants, more published since (most recently by Patel et al.)
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, isolated 8 615113

Publications

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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Microphthalmia, isolated 8 615113
OMIM
600463
Clinvar variants
Variants in ALDH1A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ALDH1A3. Added phenotypes Microphthalmia, isolated 8 615113 for gene: ALDH1A3 Publications for gene ALDH1A3 were changed from 24859610; 23591992 to 23591992; 24859610

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ALDH1A3 was added gene: ALDH1A3 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH1A3 were set to 24859610; 23591992 Phenotypes for gene: ALDH1A3 were set to Microphthalmia, isolated 8 615113