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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

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Gaze palsy, familial horizontal, with progressive scoliosis (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).
Created: 20 Jan 2025, 1:12 a.m. | Last Modified: 20 Jan 2025, 1:12 a.m.
Panel Version: 1.1235

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 20 Jan 2025, 1:12 a.m.
Last Modified: 20 Jan 2025, 1:12 a.m.
Panel version: 1.1235

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1 MIM#607313
OMIM
608630
Clinvar variants
Variants in ROBO3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2025, 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).

20 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ROBO3 were changed from Gaze palsy, horizontal, with progressive scoliosis, 607313 (3) to Gaze palsy, familial horizontal, with progressive scoliosis, 1 MIM#607313

20 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ROBO3 were set to

1 Jun 2022, Gel status: 3

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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ROBO3 were set to Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)