Ehlers Danlos syndrome with a likely monogenic cause
Gene: ROBO3
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: greenCreated: 3 Apr 2019, 3:41 p.m.
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.
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
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
Source NHS GMS was added to ROBO3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313
This gene has been classified as Green List (High Evidence).
ROBO3 was added to Ehlers-Danlos syndromespanel. Sources: Literature
ROBO3 was created by sleigh