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Cataract
Gene: AKR1E2

AKR1E2 (aldo-keto reductase family 1 member E2)
EnsemblGeneIds (GRCh38): ENSG00000165568
EnsemblGeneIds (GRCh37): ENSG00000165568
OMIM: 617451, Gene2Phenotype
AKR1E2 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Phenotypes
Cataract, MONDO:0005129, AKR1E2-related

Created: 19 Sep 2023, 5:36 a.m.
Last Modified: 19 Sep 2023, 5:36 a.m.
Panel version: 0.356

Seb Lunke (Victorian Clinical Genetics Services)

Red List (low evidence)

Same family with homozygous canonical splice variants and 3 cases of congenital cataract described in 2012 (original) and 2015 (review). No other descriptions since.
Sources: Literature
Created: 7 Jul 2020, 5:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital cararact

Publications

Created: 7 Jul 2020, 5:01 a.m.

Panel version: 0.167

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Cataract, MONDO:0005129, AKR1E2-related

OMIM

617451

Clinvar variants

Variants in AKR1E2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

19 Sep 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AKR1E2 were changed from congenital cararact to Cataract, MONDO:0005129, AKR1E2-related

7 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: akr1e2 has been classified as Red List (Low Evidence).