Possible mitochondrial disorder - nuclear genes
Gene: ROBO3EnsemblGeneIds (GRCh38): ENSG00000154134
EnsemblGeneIds (GRCh37): ENSG00000154134
OMIM: 608630, Gene2Phenotype
ROBO3 is in 11 panels
2 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313
Louise Daugherty (Genomics England Curator)
The gene ROBO3 was added to the Ehlers-Danlos Syndromes panel due to scoliosis differentials, the Genomics England clinical team reviewed further for possible inclusion in other panels, and it was decided that even though the phenotype is atypical it could resemble partially a mitochondria disorder. So it was recommended that in addition ROBO3 was added to the Mitochondrial disorders panel.Created: 3 Oct 2017, 2:09 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 Red
- Phenotypes
-
- Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313
- OMIM
- 608630
- Clinvar variants
- Variants in ROBO3
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Ehlers Danlos syndrome with a likely monogenic cause
- Possible mitochondrial disorder - nuclear genes
- Intellectual disability
- Fetal anomalies
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ROBO3 was added gene: ROBO3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313