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Cataracts

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 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

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.

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

History Filter Activity

25 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 May 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for AKR1E2 were set to Aldahmesh (2012) Genet Med 14(12):955-962, PMID: 22935719

25 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

AKR1E2 was added to Cataractspanel. Sources: Expert list

29 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

AKR1E2 was created by ellenmcdonagh