Genomics England
GMS Panels
Panels
Genes and Entities

ROBO3

roundabout guidance receptor 3
OMIM: 608630
PanelMode of inheritanceDetails
5 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 1
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FAMILIAL HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS 607313
Green
in Ehlers Danlos syndrome with a likely monogenic cause
R-numbers: R101
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313, Gaze palsy, familial horizontal, with progressive scoliosis 1, MONDO:0020790
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Familial horizontal gaze palsy with progressive scoliosis, 607313