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Inborn errors of metabolism

Gene: ROBO3

Red List (low evidence)

ROBO3 (roundabout guidance receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000154134
EnsemblGeneIds (GRCh37): ENSG00000154134
OMIM: 608630, Gene2Phenotype
ROBO3 is in 12 panels

4 reviews

Sarah Leigh (Genomics England Curator)

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

Anna de Burca (Genomics England Curator)

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

Carl Fratter (Oxford University Hospitals NHS Trust)

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

Louise Daugherty (Genomics England Curator)

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

History Filter Activity

1 Aug 2019, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: robo3 has been classified as Red List (Low Evidence).

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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