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9q21.11 duplication AND Autosomal dominant nonsyndromic hearing loss 51

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 24, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001004809.2

Allele description [Variation Report for 9q21.11 duplication]

9q21.11 duplication

Gene:
TJP2:tight junction protein 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9q21.11
Preferred name:
9q21.11 duplication

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 51
Synonyms:
CHROMOSOME 9q21.11 DUPLICATION SYNDROME; Deafness, autosomal dominant 51
Identifiers:
MONDO: MONDO:0013305; MedGen: C3160736; Orphanet: 90635; OMIM: 613558

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001164298Laboratory of Prof. Karen Avraham, Tel Aviv University
no assertion criteria provided
Pathogenic
(Nov 24, 2019) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Jewish Tunisiangermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

Walsh T, Pierce SB, Lenz DR, Brownstein Z, Dagan-Rosenfeld O, Shahin H, Roeb W, McCarthy S, Nord AS, Gordon CR, Ben-Neriah Z, Sebat J, Kanaan M, Lee MK, Frydman M, King MC, Avraham KB.

Am J Hum Genet. 2010 Jul 9;87(1):101-9. doi: 10.1016/j.ajhg.2010.05.011. Epub 2010 Jun 17.

PubMed [citation]
PMID:
20602916
PMCID:
PMC2896780

Details of each submission

From Laboratory of Prof. Karen Avraham, Tel Aviv University, SCV001164298.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Jewish Tunisiannot providednot providednot providedresearch PubMed (1)

Description

Dominant, postlingual, mild to profound high tone NSHL

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024