Congenital ophthalmoplegia
Gene: ROBO3EnsemblGeneIds (GRCh38): ENSG00000154134
EnsemblGeneIds (GRCh37): ENSG00000154134
OMIM: 608630, Gene2Phenotype
ROBO3 is in 7 panels
1 review
Shannon LeBlanc (Victorian Clinical Genetics Services)
PMID 15105459: 10 patients with homozygous variants (1 nonsense, 1 splice site, 2 frameshift, and 6 missense mutations)
PMID 16525029 - 2 unrelated children with sporadic HGPPS: one patient compound het for 2 different 2-bp deletions, one patient compound het for a missense and a nonsense mutation.
Sources: LiteratureCreated: 2 Nov 2020, 12:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM#607313)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: robo3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: robo3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Shannon LeBlanc (Victorian Clinical Genetics Services)gene: ROBO3 was added gene: ROBO3 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROBO3 were set to PMID: 15105459; 16525029 Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM#607313) Review for gene: ROBO3 was set to GREEN