Hereditary ataxia with onset in adulthood
Gene: ROBO3EnsemblGeneIds (GRCh38): ENSG00000154134
EnsemblGeneIds (GRCh37): ENSG00000154134
OMIM: 608630, Gene2Phenotype
ROBO3 is in 11 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Lots of cases, phenotype includes pontine and cerebellar hypoplasiaCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Familial horizontal gaze palsy with progressive scoliosis, 607313
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Familial horizontal gaze palsy with progressive scoliosis, 607313
- OMIM
- 608630
- Clinvar variants
- Variants in ROBO3
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Intellectual disability
- Cerebellar hypoplasia
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Ehlers Danlos syndrome with a likely monogenic cause
- Mitochondrial disorders
- Fetal anomalies
History Filter Activity
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: ROBO3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: robo3 has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Familial horizontal gaze palsy with progressive scoliosis, 607313 for gene: ROBO3
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ROBO3.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: ROBO3 was added gene: ROBO3 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ROBO3 was set to