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Fetal anomalies

Gene: ROBO3

Green List (high evidence)

ROBO3 (roundabout guidance receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000154134
EnsemblGeneIds (GRCh37): ENSG00000154134
OMIM: 608630, Gene2Phenotype
ROBO3 is in 7 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

HGPPS is an autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive scoliosis. These features are associated with a developmental malformation of the brainstem including hypoplasia of the pons and cerebellar peduncles and defective decussation of certain neuronal systems. Cognitive function is normal

PMID: 15105459; Jen 2004: Reported hom variants in 10 patients.
Created: 3 Feb 2022, 1:37 a.m. | Last Modified: 3 Feb 2022, 1:37 a.m.
Panel Version: 0.3140

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 1 MIM#607313

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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
OMIM
608630
Clinvar variants
Variants in ROBO3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: robo3 has been classified as Green List (High Evidence).

16 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ROBO3 were set to

16 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: robo3 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ROBO3 was added gene: ROBO3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis 1, MONDO:0020790; Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313