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46;XX;t(4;14)(p15.2;q13)dn AND multiple conditions

Germline classification:
Likely 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:
RCV000258690.1

Allele description [Variation Report for 46;XX;t(4;14)(p15.2;q13)dn]

46;XX;t(4;14)(p15.2;q13)dn

Variant type:
Translocation
Cytogenetic location:
14q13
Preferred name:
46;XX;t(4;14)(p15.2;q13)dn

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Posteriorly rotated ears
Identifiers:
MedGen: C0431478; Human Phenotype Ontology: HP:0000358
Name:
Anemia
Synonyms:
Anemia (disease)
Identifiers:
MONDO: MONDO:0002280; MedGen: C0002871; Human Phenotype Ontology: HP:0001903
Name:
Tapered finger
Synonyms:
Tapered fingers
Identifiers:
MedGen: C0426886; Human Phenotype Ontology: HP:0001182
Name:
Hemangioma
Identifiers:
MONDO: MONDO:0006500; MedGen: C0018916; Human Phenotype Ontology: HP:0001028
Name:
Clinodactyly of the 5th finger
Identifiers:
MedGen: C1850049; Human Phenotype Ontology: HP:0004209
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Abnormality of the dentition
Identifiers:
MedGen: C0262444; Human Phenotype Ontology: HP:0000164
Name:
Macrocephaly
Synonyms:
Macrocephalus; large head
Identifiers:
MedGen: C2243051; Human Phenotype Ontology: HP:0000256
Name:
Bruising susceptibility
Synonyms:
Easy bruising
Identifiers:
MedGen: C0423798; Human Phenotype Ontology: HP:0000978
Name:
Gastroesophageal reflux
Identifiers:
MedGen: C4317146; Human Phenotype Ontology: HP:0002020
Name:
Allergy
Identifiers:
MONDO: MONDO:0005271; MedGen: C0020517; Human Phenotype Ontology: HP:0012393
Name:
Heart murmur
Identifiers:
MedGen: C0018808; Human Phenotype Ontology: HP:0030148
Name:
Hypotonia
Synonyms:
Muscular hypotonia; poor muscle tone
Identifiers:
MedGen: C0026827; Human Phenotype Ontology: HP:0001252
Name:
Asthma
Identifiers:
MONDO: MONDO:0004979; MedGen: C0004096; Human Phenotype Ontology: HP:0002099

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000320839Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
criteria provided, single submitter

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

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

Talkowski_Lab_Assertion_Criteria_for_BCA_2016.pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

A mutation in NPAS3 segregates with mental illness in a small family.

Yu L, Arbez N, Nucifora LG, Sell GL, Delisi LE, Ross CA, Margolis RL, Nucifora FC Jr.

Mol Psychiatry. 2014 Jan;19(1):7-8. doi: 10.1038/mp.2012.192. Epub 2013 Jan 22. No abstract available.

PubMed [citation]
PMID:
23337948

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, et al.

Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.

PubMed [citation]
PMID:
27841880
PMCID:
PMC5307971

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320839.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 13, 2023