Intellectual disability
Gene: ROR2

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

6 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 9:34 a.m. | Last Modified: 11 Oct 2023, 9:34 a.m.

Panel Version: 5.286

Comment on list classification: Following a Red review by Tracy Lester (Genetics laboratory, Oxford UK) this gene was re-curated showing the neurocognitive function in patients with monoallelic and biallelic variants is typically normal. Cases are more likely to be picked up via skeletal abnormalities route. Therefore, ROR2 should be downgraded to Red on this panel at the next GMS panel update.
Created: 12 Oct 2022, 11:14 a.m. | Last Modified: 12 Oct 2022, 11:14 a.m.

Panel Version: 3.1744

Created: 12 Oct 2022, 11:14 a.m.
Last Modified: 12 Oct 2022, 11:14 a.m.
Panel version: 5.286

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

The phenotypes associated with this gene primarily lead to skeletal dysplasia and this gene is green for that panel. ID does not seem to be a primary feature in either the AD or AR conditions associated with this gene and therefore I don't think it should be green on the ID panel.
Created: 4 Oct 2022, 12:47 p.m. | Last Modified: 4 Oct 2022, 12:47 p.m.

Panel Version: 3.1735

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Skeletal dysplasia

Created: 4 Oct 2022, 12:47 p.m.
Last Modified: 4 Oct 2022, 12:47 p.m.
Panel version: 3.1735

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
BRACHYDACTYLY, TYPE B1

Publications

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 8:16 p.m.

Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; UKGTN_v12; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 1:17 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

25529582
Version 12 ukgtn.nhs.uk

Created: 2 Aug 2017, 10:13 p.m.

Panel version: 1.354

Lu Raymond (university of cambridge )

I don't know

Created: 23 Feb 2016, 10:15 a.m.

Panel version: 0.306

Richard Scott (Genomics England Curator)

Comment on list classification: Confirmed DD gene
Created: 8 Feb 2016, 12:36 a.m.

Created: 8 Feb 2016, 12:36 a.m.

Panel version: 0.227

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

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

OMIM

602337

Clinvar variants

Variants in ROR2

Penetrance

Complete

Publications

Panels with this gene