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  2. BRIDGE_SPEED_NEURO_20170705
  3. ROR2
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BRIDGE_SPEED_NEURO_20170705

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

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: 28 Jul 2017, 10:41 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Created: 2 Aug 2017, 6:42 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 2:12 p.m.
Created: 31 Jul 2017, 2:12 p.m.

Panel version: 0.143

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Brachydactyly, type B1, 113000
  • Robinow syndrome, autosomal recessive, 268310
OMIM
602337
Clinvar variants
Variants in ROR2
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ROR2 were set to Brachydactyly, type B1, 113000; Robinow syndrome, autosomal recessive, 268310

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

ROR2 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

ROR2 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green