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Limb disorders

Gene: ROR2

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

2 reviews

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: Imported from Unexplained skeletal dysplasia 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: Imported from Unexplained skeletal dysplasia panel version 0.4

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Brachydactyly, type B1, OMIM:113000 (AD)
  • Robinow syndrome, autosomal recessive, OMIM:268310 (AR)
OMIM
602337
Clinvar variants
Variants in ROR2
Penetrance
None
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)

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 1

5 Apr 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to ROR2. Panel: Limb disorders UKGTN was added to ROR2. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to ROR2. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to ROR2. Panel: Limb disorders Expert list was added to ROR2. Panel: Limb disorders Emory Genetics Laboratory was added to ROR2. Panel: Limb disorders Model of inheritance for gene ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to ROR2. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ROR2 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

ROR2 was created by Ellen McDonagh