Cerebellar and Pontocerebellar Hypoplasia
Gene: ROBO3EnsemblGeneIds (GRCh38): ENSG00000154134
EnsemblGeneIds (GRCh37): ENSG00000154134
OMIM: 608630, Gene2Phenotype
ROBO3 is in 7 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
Pontine hypoplasia is a feature of the associated phenotype.
PMID: 15105459; Jen 2004: Reported hom variants in 10 patients.
Sources: Expert ReviewCreated: 28 Apr 2020, 11:37 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
Crystle Lee (Victorian Clinical Genetics Services)gene: ROBO3 was added gene: ROBO3 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROBO3 were set to 15105459 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