Ehlers Danlos syndromes

Gene: ROBO3

Green List (high evidence)

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

4 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 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)

Green List (high evidence)

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

History Filter Activity

18 Mar 2021, Gel status: 3

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

13 Mar 2019, Gel status: 3

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)

22 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313

4 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Sep 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

ROBO3 was added to Ehlers-Danlos syndromespanel. Sources: Literature

4 Sep 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ROBO3 was created by sleigh