Bilateral congenital or childhood onset cataracts
Gene: AKR1E2

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

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

I don't know

Homozygous splice site mutation reported in 1 family with AR paediatric cataracts. Lens-enriched gene.
Created: 25 May 2016, 8:10 a.m.

Mode of inheritance
Unknown

Phenotypes
glycogen-derived 1, 5-anhydro-D-fructose accumulation, osmotic cataract

Publications

Aldahmesh (2012) Genet Med 14(12):955-962

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

Created: 25 May 2016, 8:10 a.m.

Panel version: 0.124

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Demoted to red as only one family report.
Created: 25 May 2016, 9:40 a.m.

Is on the Manchester cataract gene panel. Gene not found associated with a disease in OMIM or G2P.
Created: 13 May 2016, 12:46 p.m.

Created: 29 Apr 2016, 2:50 p.m.

Panel version: 0.2

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red
Expert list

Phenotypes

glycogen-derived 1, 5-anhydro-D-fructose accumulation, osmotic cataract

OMIM

617451

Clinvar variants

Variants in AKR1E2

Penetrance

Complete

Publications

Aldahmesh (2012) Genet Med 14(12):955-962, PMID: 22935719

Panels with this gene

Bilateral congenital or childhood onset cataracts