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Mendeliome

Gene: AKR1E2

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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: Expert list
Created: 7 Jul 2020, 5:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cataract, MONDO:0005129, AKR1E2-related

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
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 cataracts to Cataract, MONDO:0005129, AKR1E2-related

7 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AKR1E2 was added gene: AKR1E2 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: AKR1E2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AKR1E2 were set to 26622071 Phenotypes for gene: AKR1E2 were set to congenital cataracts Review for gene: AKR1E2 was set to RED