ARL3

ADP ribosylation factor like GTPase 3
OMIM: 604695
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOUBERT SYNDROME, 614615
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 35, OMIM:618161
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.5
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 35, OMIM:61816, cone-rod dystrophy, MONDO:0015993, Retinitis pigmentosa 83, OMIM:618173
R-numbers: R32
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 35, OMIM:61816, cone-rod dystrophy, MONDO:0015993, Retinitis pigmentosa 83, OMIM:618173