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46;XX;t(1;13)(q11.2;p11.2)dn AND multiple conditions

Germline classification:
Uncertain significance (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:
RCV000258714.2

Allele description [Variation Report for 46;XX;t(1;13)(q11.2;p11.2)dn]

46;XX;t(1;13)(q11.2;p11.2)dn

Variant type:
Translocation
Cytogenetic location:
13p11.2
Preferred name:
46;XX;t(1;13)(q11.2;p11.2)dn

Condition(s)

Name:
Sensorineural hearing loss disorder
Synonyms:
Sensorineural hearing loss; Sensorineural hearing impairment
Identifiers:
MONDO: MONDO:0020678; MeSH: D006319; MedGen: C0018784; Human Phenotype Ontology: HP:0000407
Name:
Sleep abnormality
Synonyms:
Sleep disturbance; sleep difficulties
Identifiers:
MedGen: C0037317; Human Phenotype Ontology: HP:0002360
Name:
Chronic otitis media
Identifiers:
MONDO: MONDO:0021204; MedGen: C0271441; Human Phenotype Ontology: HP:0000389
Name:
Chronic diarrhea
Identifiers:
MONDO: MONDO:0044751; MedGen: C0401151; Human Phenotype Ontology: HP:0002028
Name:
Episodic abdominal pain
Identifiers:
MedGen: C3808022; Human Phenotype Ontology: HP:0002574
Name:
Abnormal dental morphology
Synonyms:
Abnormality of dental morphology
Identifiers:
MedGen: C0040427; Human Phenotype Ontology: HP:0006482
Name:
Facial palsy
Synonyms:
Bell's palsy; Facial cranial nerve paralysis; Bell palsy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0005665; MedGen: C0376175; Human Phenotype Ontology: HP:0010628
Name:
Cementoma
Identifiers:
MedGen: C0007659; Human Phenotype Ontology: HP:0012328
Name:
Ossifying fibroma of the jaw
Identifiers:
MedGen: C4072940; Human Phenotype Ontology: HP:0030427

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000320880Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
criteria provided, single submitter

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

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

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

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, SCV000320880.1

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

Last Updated: Apr 15, 2024