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46;XY;t(1;9;5)(compleX)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:
RCV000258606.3

Allele description [Variation Report for 46;XY;t(1;9;5)(compleX)dn]

46;XY;t(1;9;5)(compleX)dn

Variant type:
Translocation
Preferred name:
46;XY;t(1;9;5)(compleX)dn

Condition(s)

Name:
Epicanthus
Synonyms:
Epicanthal fold
Identifiers:
MedGen: C0678230; OMIM: 131500; Human Phenotype Ontology: HP:0000286
Name:
Pectus excavatum
Synonyms:
funnel chest
Identifiers:
MONDO: MONDO:0008213; MedGen: C2051831; OMIM: 169300; Human Phenotype Ontology: HP:0000767
Name:
Telecanthus
Identifiers:
MONDO: MONDO:0008537; MedGen: C0423113; OMIM: 187350; Human Phenotype Ontology: HP:0000506
Name:
Alopecia areata
Identifiers:
MONDO: MONDO:0005340; MedGen: C0002171
Name:
Micrognathia
Identifiers:
MedGen: C0025990; Human Phenotype Ontology: HP:0000347
Name:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Abnormality of the outer ear
Identifiers:
MedGen: C1846460; Human Phenotype Ontology: HP:0000356
Name:
Osteoporosis
Identifiers:
MONDO: MONDO:0005298; MedGen: C0029456; OMIM: 166710; Human Phenotype Ontology: HP:0000939
Name:
Coarse hair
Identifiers:
MedGen: C0277959; Human Phenotype Ontology: HP:0002208
Name:
Frontal upsweep of hair (COWLICK)
Synonyms:
Hair whorl
Identifiers:
MedGen: C1185616; OMIM: 139400; Human Phenotype Ontology: HP:0002236
Name:
Recurrent fractures
Identifiers:
MedGen: C0016655; Human Phenotype Ontology: HP:0002757

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000320773Talkowski 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

The contribution of de novo coding mutations to autism spectrum disorder.

Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, et al.

Nature. 2014 Nov 13;515(7526):216-21. doi: 10.1038/nature13908. Epub 2014 Oct 29.

PubMed [citation]
PMID:
25363768
PMCID:
PMC4313871

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, SCV000320773.1

#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: Jan 26, 2024