Genomics England
GMS Panels
Panels
Genes and Entities

RDH12

retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
OMIM: 608830
PanelMode of inheritanceDetails
1 panel
Green
in Retinal disorders
R-numbers: R32
Signed-off version 4.42
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leber congenital amaurosis 13, Macular Dystrophy/Degeneration/Stargardt Disease, Leber congenital amaurosis 13, 612712, Eye Disorders, Retinitis Pigmentosa, Recessive, Retinitis pigmentosa