Genomics England
GMS Panels
Panels
Genes and Entities

RPE65

RPE65, retinoid isomerohydrolase
OMIM: 180069
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEBER CONGENITAL AMAUROSIS 608553
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leber congenital amaurosis 2, OMIM:204100 (AR), Retinitis pigmentosa 20, OMIM:613794 (AR), Retinitis pigmentosa 87 with choroidal involvement, OMIM:618697 (AD)