Genomics England
GMS Panels
Panels
Genes and Entities

RDH5

retinol dehydrogenase 5
OMIM: 601617
PanelMode of inheritanceDetails
1 panel
Green
in Retinal disorders
R-numbers: R32
Signed-off version 6.16
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Achromatopsia, Cone, and Cone-rod Dystrophy, Congenital Stationary Night Blindness, Fundus albipunctatus, 136880, Fundus albipunctatus