Cerebellar hypoplasia
Gene: ROBO3
ROBO3 (roundabout guidance receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000154134
EnsemblGeneIds (GRCh37): ENSG00000154134
OMIM: 608630, Gene2Phenotype
ROBO3 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000154134
EnsemblGeneIds (GRCh37): ENSG00000154134
OMIM: 608630, Gene2Phenotype
ROBO3 is in 11 panels
1 review
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and as a confirmed G2P. At least 14 variants reported.Created: 4 Sep 2017, 2:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 1 607313
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Gaze palsy, familial horizontal, with progressive scoliosis, 1 607313
- OMIM
- 608630
- Clinvar variants
- Variants in ROBO3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Cerebellar hypoplasia
- Fetal anomalies
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Ehlers Danlos syndrome with a likely monogenic cause
- Mitochondrial disorders
History Filter Activity
4 Sep 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 Sep 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)ROBO3 was added to Cerebellar hypoplasiapanel. Sources: Literature
4 Sep 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)ROBO3 was created by sleigh