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NM_004560.4(ROR2):c.1321_1325del (p.Arg441fs) AND Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2000
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:
RCV000007735.3

Allele description [Variation Report for NM_004560.4(ROR2):c.1321_1325del (p.Arg441fs)]

NM_004560.4(ROR2):c.1321_1325del (p.Arg441fs)

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.1321_1325del (p.Arg441fs)
HGVS:
  • NC_000009.12:g.91726603_91726607del
  • NG_008089.1:g.228557_228561del
  • NM_001318204.2:c.1287_1291del
  • NM_004560.4:c.1321_1325delMANE SELECT
  • NP_001305133.1:p.Ser429fs
  • NP_004551.2:p.Arg441fs
  • NC_000009.11:g.94488885_94488889del
  • NC_000009.12:g.91726602_91726606del
  • NM_004560.3:c.1321_1325del
Protein change:
R441fs
Links:
OMIM: 602337.0008; dbSNP: rs863223290
NCBI 1000 Genomes Browser:
rs863223290
Molecular consequence:
  • NM_001318204.2:c.1287_1291del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004560.4:c.1321_1325del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals
Identifiers:
MedGen: C3151609

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027936OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2000) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Kömec R, Mundlos S.

Am J Hum Genet. 2000 Oct;67(4):822-31. Epub 2000 Sep 12.

PubMed [citation]
PMID:
10986040
PMCID:
PMC1287887

Details of each submission

From OMIM, SCV000027936.2

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

Description

In an extensive Turkish kindred, Schwabe et al. (2000) demonstrated that type B brachydactyly (BDB1; 113000) was caused by a heterozygous 5-bp deletion (1321delCGGCG) in exon 8 of the ROR2 gene, proximal to the tyrosine kinase domain, resulting in a frameshift and a stop codon after 14 amino acids. One individual in this family, born of consanguineous parents who both had BDB1, was homozygous for the 5-bp deletion. He had particularly severe skeletal manifestations and a ventricular septal defect. His phenotype resembled an extreme form of brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals and absence of nails (see 268310). Vertebral anomalies, brachymelia of the arms, and a ventricular septal defect were features reminiscent of Robinow syndrome, but he lacked the craniofacial features of Robinow syndrome.

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

Last Updated: Mar 10, 2024