46;XY;t(9;11)(q34;p11.2)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:: RCV000258765.1

Allele description [Variation Report for 46;XY;t(9;11)(q34;p11.2)dn]

46;XY;t(9;11)(q34;p11.2)dn

Variant type:: Translocation
Cytogenetic location:: 11p11.2
Preferred name:: 46;XY;t(9;11)(q34;p11.2)dn

Condition(s)

Name:: Pulmonic stenosis
Synonyms:: Pulmonic stenosis (disease)
Identifiers:: MONDO: MONDO:0009938; MedGen: C1956257; Orphanet: 3189; OMIM: 265500; Human Phenotype Ontology: HP:0001642

Name:: Atrial septal defect (ASD)
Synonyms:: Interatrial communication; Defect in the atrial septum
Identifiers:: MONDO: MONDO:0006664; MedGen: C0018817; Orphanet: 1478; OMIM: PS108800; Human Phenotype Ontology: HP:0001631

Name:: Autistic behavior
Identifiers:: MedGen: C0856975; Human Phenotype Ontology: HP:0000729

Name:: Aggressive behavior
Identifiers:: MedGen: C0001807; Human Phenotype Ontology: HP:0000718

Name:: Constipation
Synonyms:: Constipation disorder
Identifiers:: MONDO: MONDO:0002203; MedGen: C0009806; Human Phenotype Ontology: HP:0002019

Name:: Aspiration
Identifiers:: MedGen: C2712334; Human Phenotype Ontology: HP:0002835

Name:: Coarse facial features
Identifiers:: MedGen: C1845847; Human Phenotype Ontology: HP:0000280

Name:: Delayed speech and language development
Identifiers:: MedGen: C0454644; Human Phenotype Ontology: HP:0000750

Name:: Emotional lability
Synonyms:: Mood swings
Identifiers:: MedGen: C0085633; Human Phenotype Ontology: HP:0000712

Name:: Dry skin
Identifiers:: MedGen: C0151908; Human Phenotype Ontology: HP:0000958

Name:: Thickened skin
Identifiers:: MedGen: C0241165; Human Phenotype Ontology: HP:0001072

Name:: Severe global developmental delay
Synonyms:: Severe psychomotor retardation
Identifiers:: MedGen: C1837397; Human Phenotype Ontology: HP:0011344

Name:: Asthma
Identifiers:: MONDO: MONDO:0004979; MedGen: C0004096; Human Phenotype Ontology: HP:0002099

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000320795	Talkowski 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 novo	research	PubMed (4) [See all records that cite these PMIDs] 19264732, 16826528, 25529582, 27841880 Talkowski_Lab_Assertion_Criteria_for_BCA_2016.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000320795

Talkowski 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 novo

research

PubMed (4)
[See all records that cite these PMIDs]

Talkowski_Lab_Assertion_Criteria_for_BCA_2016.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.

Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam MP, Innes M, Davies C, López AG, Casalone R, Weber A, Brueton LA, Navarro AD, et al.

J Med Genet. 2009 Sep;46(9):598-606. doi: 10.1136/jmg.2008.062950. Epub 2009 Mar 4.

PubMed [citation]

PMID:: 19264732

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Geneviève D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC, Sistermans EA, de Vries BB, van Bokhoven H.

Am J Hum Genet. 2006 Aug;79(2):370-7. Epub 2006 Jun 13.

PubMed [citation]

PMID:: 16826528
PMCID:: PMC1559478

See all PubMed Citations (4)

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320795.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (4)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 5, 2024

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