Genomics England
GMS Panels
Panels
Genes and Entities

RPGRIP1

RPGR interacting protein 1
OMIM: 605446
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 6 613826, CONE-ROD DYSTROPHY 13 608194
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achromatopsia, Cone, and Cone-rod Dystrophy, Cone - rod dystrophy 13, Leber congenital amaurosis 6, , Macular Dystrophy/Degeneration/Stargardt Disease, Leber Congenital Amaurosis, Leber congenital amaurosis 6, 613826, Eye Disorders, Retinitis pigmentosa, Cone-Rod Dystrophy, Recessive, Leber congenital amaurosis 6, 613826Cone-rod dystrophy 13, 608194