ROBO3

roundabout guidance receptor 3
OMIM: 608630, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ROBO3 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.65

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM#607313)

Green ROBO3 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM# 607313)

Green ROBO3 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.522

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green ROBO3 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)

Green ROBO3 in Congenital ophthalmoplegia


Level 2: Ophthalmological disorders
Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM#607313)

Green ROBO3 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis 1, MONDO:0020790
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313

Green ROBO3 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)