Genomics England
GMS Panels
Panels
Genes and Entities

ARL3

ADP ribosylation factor like GTPase 3
OMIM: 604695
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOUBERT SYNDROME, 614615
Green
in Ophthalmological ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 35, OMIM:61816, cone-rod dystrophy, MONDO:0015993, Retinitis pigmentosa 83, OMIM:618173
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 35, OMIM:61816, cone-rod dystrophy, MONDO:0015993, Retinitis pigmentosa 83, OMIM:618173