RECQL4:c.3599_3600delCG (p.Thr1200Argfs) AND Rapadilino syndrome

Clinical significance:Likely pathogenic

Review status:

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000049823.1

Allele description [Variation Report for RECQL4:c.3599_3600delCG (p.Thr1200Argfs)]

Gene:
RECQL4:RecQ protein-like 4 [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
RECQL4:c.3599_3600delCG (p.Thr1200Argfs)
HGVS:
  • NC_000008.11:g.144511458_144511459delCG
  • NG_016430.1:g.11368_11369delCG
  • NM_004260.3:c.3599_3600delCG
  • NP_004251.3:p.Thr1200Argfs
  • NC_000008.10:g.145736841_145736842delCG
Links:
dbSNP: 386833854
NCBI 1000 Genomes Browser:
rs386833854
Molecular consequence:
  • NM_004260.3:c.3599_3600delCG: frameshift variant [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Rapadilino syndrome
Synonyms:
Radial and patellar aplasia; Radial and patellar hypoplasia; Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate
Identifiers:
MedGen: C1849453; OMIM: 266280; Orphanet: 3021
Age of onset:
Neonatal/infancy
Prevalence:
<1 / 1 000 000 3021

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000082232Juha Muilu Group Institute for Molecular Medicine Finland (FIMM)classified by single submitterprobable-pathogenicnot providednot provided

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

Description

FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference

SCV000082232

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providednot provided

Citations

PubMed

The mutation spectrum in RECQL4 diseases.

Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M.

Eur J Hum Genet. 2009 Feb;17(2):151-8. doi: 10.1038/ejhg.2008.154. Epub 2008 Aug 20.

PubMed [citation]
PMID:
18716613
PMCID:
PMC2986053

Details of each submission

From Juha Muilu Group Institute for Molecular Medicine Finland (FIMM), SCV000082232.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to probably pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jun 27, 2014

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