46;XY;t(1;5)(p35.3;q31.3)dn AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Aug 20, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000258633.1

Allele description [Variation Report for 46;XY;t(1;5)(p35.3;q31.3)dn]

46;XY;t(1;5)(p35.3;q31.3)dn

Variant type:
Translocation
Cytogenetic location:
1p35.3
Preferred name:
46;XY;t(1;5)(p35.3;q31.3)dn

Condition(s)

Name:
Epicanthus
Synonyms:
Epicanthal fold; Epicanthal folds; Epicanthic folds; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0020164; MedGen: C0678230; OMIM: 131500; Human Phenotype Ontology: HP:0000286
Name:
Hypertelorism
Synonyms:
Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; See all synonyms [MedGen]
Identifiers:
MedGen: C0020534; OMIM: 145400; Human Phenotype Ontology: HP:0000316
Name:
Coarctation of aorta
Synonyms:
Aortic coarctation; Coarctation of the aorta; Coaractation of the aorta
Identifiers:
MONDO: MONDO:0007345; MedGen: C0003492; Orphanet: 1457; OMIM: 120000; Human Phenotype Ontology: HP:0001680
Name:
Global developmental delay (DD)
Synonyms:
Cognitive delay; Delayed cognitive development; Delayed development; See all synonyms [MedGen]
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Inguinal hernia
Identifiers:
MedGen: C0019294; Human Phenotype Ontology: HP:0000023
Name:
Bilateral cryptorchidism
Identifiers:
MedGen: C0431663; Human Phenotype Ontology: HP:0008689
Name:
Downslanted palpebral fissures
Synonyms:
Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; See all synonyms [MedGen]
Identifiers:
MedGen: C0423110; Human Phenotype Ontology: HP:0000494
Name:
Short neck
Synonyms:
Cervical shortening; Decreased cervical height; Decreased cervical length; See all synonyms [MedGen]
Identifiers:
MedGen: C0521525; Human Phenotype Ontology: HP:0000470
Name:
Thin vermilion border
Synonyms:
Thin vermillion; Thin lips; Decreased volume of lip; See all synonyms [MedGen]
Identifiers:
MedGen: C0578038; Human Phenotype Ontology: HP:0000233
Name:
Wide intermamillary distance
Synonyms:
Wide-spaced nipples; Widely-spaced nipples
Identifiers:
MedGen: C1827524; Human Phenotype Ontology: HP:0006610
Name:
Wide nose
Synonyms:
Broad nose; Increased breadth of nose; Increased nasal breadth; See all synonyms [MedGen]
Identifiers:
MedGen: C0426421; Human Phenotype Ontology: HP:0000445
Name:
Hypospadias, penile
Identifiers:
MedGen: C1691215; Human Phenotype Ontology: HP:0003244
Name:
Low-set, posteriorly rotated ears
Identifiers:
MedGen: C1857486; Human Phenotype Ontology: HP:0000368
Name:
Thickened helices
Synonyms:
Thick helix
Identifiers:
MedGen: C1837732; Human Phenotype Ontology: HP:0000391
Name:
Strabismus
Synonyms:
Squint; Cross-eyed; Heterotropia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003432; MedGen: C0038379; Human Phenotype Ontology: HP:0000486
Name:
Abnormal number of hair whorls
Synonyms:
Abnormal number of hair swirls; Double crown (hair whorls); Extra hair swirls; See all synonyms [MedGen]
Identifiers:
MedGen: C4023695; Human Phenotype Ontology: HP:0010813
Name:
Bicuspid aortic valve
Synonyms:
Aortic valve disease
Identifiers:
MedGen: C0149630; Human Phenotype Ontology: HP:0001647
Name:
Smooth philtrum
Synonyms:
Flat philtrum; Indistinct philtrum; Simple philtrum; See all synonyms [MedGen]
Identifiers:
MedGen: C1142533; Human Phenotype Ontology: HP:0000319

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000320765Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospitalcriteria provided, single submitter
Pathogenic
(Aug 20, 2016)
de novoresearch

PubMed (4)
[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

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

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, et al.

Am J Hum Genet. 2014 May 1;94(5):784-9. doi: 10.1016/j.ajhg.2014.04.006.

PubMed [citation]
PMID:
24791903
PMCID:
PMC4067559
See all PubMed Citations (4)

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital, SCV000320765.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 23, 2021

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