Skeletal dysplasia
Gene: ROR2
Mesomelic and rhizo-mesomelic dysplasias gp of SD - several cases. Do you report variants in this gene as part of your current diagnostic practice? YES - for Robinow; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Brachydactyly, type B1 113000; Robinow syndrome, autosomal recessive 268310
Variants in this GENE are reported as part of current diagnostic practice
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ROR2; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 12 Jul 2016, 12:06 p.m.
Tier 1Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brachydactyly, type B1 113000; Robinow syndrome, autosomal recessive 268310
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ROR2 were changed from Brachydactyly, type B1 113000; Robinow syndrome, autosomal recessive 268310 to Brachydactyly, type B1, OMIM:113000 (AD); Robinow syndrome, autosomal recessive, OMIM:268310 (AR)
Added phenotypes Brachydactyly, type B1 113000; Robinow syndrome, autosomal recessive 268310 for gene: ROR2
Source NHS GMS was added to ROR2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for ROR2 were set to Brachydactyly, type B1 113000; Robinow syndrome, autosomal recessive 268310
Mode of inheritance for ROR2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
ROR2 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
ROR2 was created by sleigh
ROR2 was added to Unexplained skeletal dysplasiapanel. Sources: