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46;XX;t(2;10)(q22;22.3)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:
RCV000258771.1

Allele description [Variation Report for 46;XX;t(2;10)(q22;22.3)dn]

46;XX;t(2;10)(q22;22.3)dn

Variant type:
Translocation
Cytogenetic location:
10
Preferred name:
46;XX;t(2;10)(q22;22.3)dn

Condition(s)

Name:
Obesity
Synonyms:
Obesity disorder
Identifiers:
MONDO: MONDO:0011122; MeSH: D009765; MedGen: C0028754; Orphanet: 71529; Human Phenotype Ontology: HP:0001513
Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Short stature
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322
Name:
Genu valgum
Identifiers:
MedGen: C0576093; Human Phenotype Ontology: HP:0002857
Name:
Deeply set eye
Synonyms:
Enophthalmos
Identifiers:
MONDO: MONDO:0001210; MedGen: C0423224; Human Phenotype Ontology: HP:0000490
Name:
Dysarthria
Identifiers:
MedGen: C0013362; Human Phenotype Ontology: HP:0001260
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Specific learning disability
Identifiers:
MONDO: MONDO:0016225; MedGen: C4025790; Human Phenotype Ontology: HP:0001328
Name:
Broad face
Identifiers:
MedGen: C1859680; Human Phenotype Ontology: HP:0000283
Name:
Prominent nasal bridge
Identifiers:
MedGen: C1854113; Human Phenotype Ontology: HP:0000426
Name:
Strabismus
Identifiers:
MONDO: MONDO:0003432; MedGen: C0038379; Human Phenotype Ontology: HP:0000486
Name:
Diastema
Identifiers:
MedGen: C0011998; Human Phenotype Ontology: HP:0000699
Name:
Swan neck-like deformities of the fingers
Identifiers:
MedGen: C1849152; Human Phenotype Ontology: HP:0006150
Name:
Metatarsus valgus
Identifiers:
MedGen: C4082144; Human Phenotype Ontology: HP:0010508
Name:
Increased overbite
Synonyms:
Overbite
Identifiers:
MedGen: C0266063; Human Phenotype Ontology: HP:0011094

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000320983Talkowski 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 (11)
[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

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.

Wagenstaller J, Spranger S, Lorenz-Depiereux B, Kazmierczak B, Nathrath M, Wahl D, Heye B, Glaser D, Liebscher V, Meitinger T, Strom TM.

Am J Hum Genet. 2007 Oct;81(4):768-79. Epub 2007 Aug 28.

PubMed [citation]
PMID:
17847001
PMCID:
PMC2227926

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, et al.

Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26.

PubMed [citation]
PMID:
23708187
PMCID:
PMC3704157
See all PubMed Citations (11)

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320983.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (11)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024