Likely inborn error of metabolism

Gene: ROBO3

Comment 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

Green List (high evidence)

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 List (low evidence)

Red - not considered a primary mitochondrial disorder

Created: 11 Jun 2019, 3:59 p.m.

Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313

Green List (high evidence)

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

• 15105459
• 16525029