Ehlers Danlos syndrome with a likely monogenic cause
Gene: ROBO3EnsemblGeneIds (GRCh38): ENSG00000154134
EnsemblGeneIds (GRCh37): ENSG00000154134
OMIM: 608630, Gene2Phenotype
ROBO3 is in 11 panels
4 reviews
Duncan Baker (Sheffield Genetics)
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ROBO3; Suggested initial gene rating: greenCreated: 3 Apr 2019, 3:41 p.m.
Louise Daugherty (Genomics England Curator)
Reviewed by the Genomics England clinical team, the gene ROBO3 was added to the Ehlers-Danlos Syndromes panel because of the prominent scoliosis.Created: 3 Oct 2017, 2:56 p.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and as a confirmed G2P. At least 14 variants reported.Created: 4 Sep 2017, 2:24 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
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313
- OMIM
- 608630
- Clinvar variants
- Variants in ROBO3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- DDG2P
- Cerebellar hypoplasia
- Childhood onset dystonia, chorea or related movement disorder
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Possible mitochondrial disorder - nuclear genes
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Intellectual disability
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ROBO3 were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 to Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to ROBO3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)ROBO3 was added to Ehlers-Danlos syndromespanel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)ROBO3 was created by sleigh