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Anophthalmia_Microphthalmia_Coloboma
Gene: ALDH1A3

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 families reported.
Created: 24 Dec 2020, 5:38 a.m. | Last Modified: 24 Dec 2020, 5:38 a.m.

Panel Version: 0.78

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, isolated 8, MIM# 615113

Publications

Created: 24 Dec 2020, 5:38 a.m.
Last Modified: 24 Dec 2020, 5:38 a.m.
Panel version: 0.78

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Microphthalmia, isolated 8, MIM# 615113

OMIM

Clinvar variants

Variants in ALDH1A3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

24 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aldh1a3 has been classified as Green List (High Evidence).

24 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALDH1A3 were changed from to Microphthalmia, isolated 8, MIM# 615113

24 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALDH1A3 were set to

24 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ALDH1A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALDH1A3 was added gene: ALDH1A3 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALDH1A3 was set to Unknown