GMS Musculoskeletal specialist test group 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

1 review

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, 11:52 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, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Brachydactyly, type B1 113000
Robinow syndrome, autosomal recessive 268310

OMIM

602337

Clinvar variants

Variants in ROR2

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: ROR2 was added gene: ROR2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ROR2 were set to Brachydactyly, type B1 113000; Robinow syndrome, autosomal recessive 268310

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ROR2