AKR1E2

aldo-keto reductase family 1 member E2
OMIM: 617451, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red AKR1E2 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.6
Latest signed off version: v7.0 (30 Apr 2025)

review Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • glycogen-derived 1, 5-anhydro-D-fructose accumulation, osmotic cataract