Skeletal dysplasia
Gene: ROR2

ROR2 (receptor tyrosine kinase like orphan receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000169071
EnsemblGeneIds (GRCh37): ENSG00000169071
OMIM: 602337, Gene2Phenotype
ROR2 is in 11 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Lester
Created: 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

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 6 Mar 2019, 11:37 a.m.

Created: 6 Mar 2019, 11:37 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.
Created: 12 Jul 2016, 12:06 p.m.

Created: 12 Jul 2016, 12:06 p.m.

Panel version: 0.574

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 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

Created: 17 Jun 2016, 8:07 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
UKGTN
Expert list
Emory Genetics Laboratory

Phenotypes

Brachydactyly, type B1, OMIM:113000 (AD)
Robinow syndrome, autosomal recessive, OMIM:268310 (AR)

OMIM

602337

Clinvar variants

Variants in ROR2

Penetrance

Complete

Panels with this gene

History Filter Activity

12 Oct 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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)

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Brachydactyly, type B1 113000; Robinow syndrome, autosomal recessive 268310 for gene: ROR2

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ROR2. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4