U.S. flag

An official website of the United States government

NM_004560.4(ROR2):c.2249del (p.Gly750fs) AND Brachydactyly type B1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2009
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000007729.4

Allele description [Variation Report for NM_004560.4(ROR2):c.2249del (p.Gly750fs)]

NM_004560.4(ROR2):c.2249del (p.Gly750fs)

Gene:
ROR2:receptor tyrosine kinase like orphan receptor 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q22.31
Genomic location:
Preferred name:
NM_004560.4(ROR2):c.2249del (p.Gly750fs)
HGVS:
  • NC_000009.12:g.91724248del
  • NG_008089.1:g.230918del
  • NM_004560.4:c.2249delMANE SELECT
  • NP_004551.2:p.Gly750fs
  • NC_000009.11:g.94486530del
  • NC_000009.12:g.91724245del
  • NM_004560.3:c.2249del
Protein change:
G750fs
Links:
OMIM: 602337.0003; dbSNP: rs863223289
NCBI 1000 Genomes Browser:
rs863223289
Molecular consequence:
  • NM_004560.4:c.2249del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Brachydactyly type B1 (BDB1)
Identifiers:
MONDO: MONDO:0007220; MedGen: C1862112; Orphanet: 93383; OMIM: 113000

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027930OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2009) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.

Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO.

Nat Genet. 2000 Mar;24(3):275-8.

PubMed [citation]
PMID:
10700182

A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.

Lv D, Luo Y, Yang W, Cao L, Wen Y, Zhao X, Sun M, Lo WH, Zhang X.

J Hum Genet. 2009 Jul;54(7):422-5. doi: 10.1038/jhg.2009.48. Epub 2009 May 22.

PubMed [citation]
PMID:
19461659

Details of each submission

From OMIM, SCV000027930.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In an affected member of a family with brachydactyly type B (BDB1; 113000), Oldridge et al. (2000) found a 1-bp deletion, 2249delG, in the ROR2 gene leading to a frameshift at gly750 with an arginine/proline-rich sequence of 23 novel amino acids before the first stop codon. The phenotype also included cutaneous syndactyly.

Lv et al. (2009) reported a Chinese family with a similar phenotype, including cutaneous syndactyly, with a similar mutation (2243delC; 602337.0014).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022