Genomics England
GMS Panels
Panels
Genes and Entities

ROBO1

roundabout guidance receptor 1
OMIM: 602430
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Tetralogy of Fallot and septal defects, Neurooculorenal syndrome, OMIM:620305
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, MONDO:0001071, Neurooculorenal syndrome, OMIM:620305