Genomics England
GMS Panels
Panels
Genes and Entities

GUCY2D

guanylate cyclase 2D, retinal
OMIM: 600179
PanelMode of inheritanceDetails
1 panel
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Achromatopsia, Cone, and Cone-rod Dystrophy, Cone-rod dystrophy 6 (AD), Leber congenital amaurosis 1 (AR), Leber congenital amaurosis 1, 204000, Eye Disorders, Retinitis pigmentosa