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46;XY;t(1;2)(p34.2;q35)dn AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 20, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000258789.2

Allele description [Variation Report for 46;XY;t(1;2)(p34.2;q35)dn]

46;XY;t(1;2)(p34.2;q35)dn

Variant type:
Translocation
Cytogenetic location:
1p34.2
Preferred name:
46;XY;t(1;2)(p34.2;q35)dn

Condition(s)

Name:
Cleft upper lip
Identifiers:
MONDO: MONDO:0016043; MedGen: C0008924; Human Phenotype Ontology: HP:0000204
Name:
Motor delay
Synonyms:
Motor retardation; motor developmental delay
Identifiers:
MedGen: C1854301; Human Phenotype Ontology: HP:0001270
Name:
Enuresis
Identifiers:
MONDO: MONDO:0024290; MedGen: C0014394; Human Phenotype Ontology: HP:0000805
Name:
Abnormal skull morphology
Synonyms:
Abnormality of the skull
Identifiers:
MedGen: C0235942; Human Phenotype Ontology: HP:0000929
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Facial asymmetry
Identifiers:
MedGen: C1306710; Human Phenotype Ontology: HP:0000324
Name:
Anxiety
Synonyms:
Anxiety-related personality traits
Identifiers:
MONDO: MONDO:0011918; MedGen: C0003467; OMIM: 607834; Human Phenotype Ontology: HP:0000739
Name:
Intellectual disability, mild
Identifiers:
MedGen: C0026106; Human Phenotype Ontology: HP:0001256
Name:
Mild global developmental delay
Identifiers:
MedGen: C4012968; Human Phenotype Ontology: HP:0011342
Name:
Heart murmur
Identifiers:
MedGen: C0018808; Human Phenotype Ontology: HP:0030148

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000320834Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
criteria provided, single submitter

(Talkowski Lab Assertion Criteria for BCA 2016)		Pathogenic
(Aug 20, 2016) 		de novoresearch

PubMed (8)
[See all records that cite these PMIDs]

Talkowski_Lab_Assertion_Criteria_for_BCA_2016.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, et al.

Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14.

PubMed [citation]
PMID:
25217958
PMCID:
PMC4177294

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.

Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, et al.

Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17.

PubMed [citation]
PMID:
25529582
PMCID:
PMC4392068
See all PubMed Citations (8)

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320834.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (8)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 30, 2023