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46;XY;t(3;5)(q24;p15.3)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:
RCV000258570.1

Allele description [Variation Report for 46;XY;t(3;5)(q24;p15.3)dn]

46;XY;t(3;5)(q24;p15.3)dn

Variant type:
Translocation
Cytogenetic location:
3q24
Preferred name:
46;XY;t(3;5)(q24;p15.3)dn

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Upslanted palpebral fissure
Identifiers:
MedGen: C0423109; Human Phenotype Ontology: HP:0000582
Name:
Atypical behavior
Synonyms:
Behavioral abnormality
Identifiers:
MedGen: C0233514; Human Phenotype Ontology: HP:0000708
Name:
Aggressive behavior
Identifiers:
MedGen: C0001807; Human Phenotype Ontology: HP:0000718
Name:
High palate
Identifiers:
MedGen: C0240635; Human Phenotype Ontology: HP:0000218
Name:
Pes planus
Synonyms:
flatfoot
Identifiers:
MONDO: MONDO:0005293; MedGen: C0016202; Human Phenotype Ontology: HP:0001763
Name:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Autism with high cognitive abilities
Identifiers:
MedGen: C4025832; Human Phenotype Ontology: HP:0000753
Name:
Abnormal aggressive, impulsive or violent behavior
Identifiers:
MedGen: C4024963; Human Phenotype Ontology: HP:0006919
Name:
Abnormal subcutaneous fat tissue distribution
Identifiers:
MedGen: C1859347; Human Phenotype Ontology: HP:0007552
Name:
Abnormal hair pattern
Identifiers:
MedGen: C4023721; Human Phenotype Ontology: HP:0010720
Name:
Prominent forehead
Identifiers:
MedGen: C1837260; Human Phenotype Ontology: HP:0011220
Name:
Attention deficit hyperactivity disorder (ADHD)
Identifiers:
MONDO: MONDO:0007743; MedGen: C1263846; Human Phenotype Ontology: HP:0007018

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000320850Talkowski 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 (3)
[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

Loss of δ-catenin function in severe autism.

Turner TN, Sharma K, Oh EC, Liu YP, Collins RL, Sosa MX, Auer DR, Brand H, Sanders SJ, Moreno-De-Luca D, Pihur V, Plona T, Pike K, Soppet DR, Smith MW, Cheung SW, Martin CL, State MW, Talkowski ME, Cook E, Huganir R, Katsanis N, et al.

Nature. 2015 Apr 2;520(7545):51-6. doi: 10.1038/nature14186. Epub 2015 Mar 25.

PubMed [citation]
PMID:
25807484
PMCID:
PMC4383723

CTNND2 deletion and intellectual disability.

Belcaro C, Dipresa S, Morini G, Pecile V, Skabar A, Fabretto A.

Gene. 2015 Jul 1;565(1):146-9. doi: 10.1016/j.gene.2015.03.054. Epub 2015 Apr 1.

PubMed [citation]
PMID:
25839933
See all PubMed Citations (3)

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320850.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 13, 2023