Likely inborn error of metabolism - targeted testing not possible
Gene: ROBO3Comment on list classification: ROBO3 is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Gaze palsy, familial horizontal, with progressive scoliosis, 1 607313, which is not appropriate for this panel.Created: 1 Aug 2019, 1:59 p.m. | Last Modified: 1 Aug 2019, 1:59 p.m.
Panel Version: 1.73
Potential differential diagnosis for mitochondrial disorder. Comment from GEL clinical team that could resemble mitochondrial disorder (gaze palsy).Created: 19 Jun 2019, 12:26 p.m.
Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313
Red - not considered a primary mitochondrial disorderCreated: 11 Jun 2019, 3:59 p.m.
Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313
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
Gene: robo3 has been classified as Red List (Low Evidence).
Ellen McDonagh: Comment on mode of pathogenici
gene: ROBO3 was added gene: ROBO3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROBO3 were set to 16525029; 15105459 Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313