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15q15.3 deletion AND Autosomal recessive nonsyndromic hearing loss 16

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:
RCV001004807.2

Allele description [Variation Report for 15q15.3 deletion]

15q15.3 deletion

Gene:
STRC:stereocilin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q15.3
Preferred name:
15q15.3 deletion
Other names:
15q15.3deletion

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 16
Synonyms:
Deafness, autosomal recessive 16; DFNB16 Nonsyndromic Hearing Loss and Deafness
Identifiers:
MONDO: MONDO:0011364; MedGen: C1863561; Orphanet: 90636; OMIM: 603720

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001164296Laboratory 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
Mixed Jewishgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene.

Čada Z, Šafka Brožková D, Balatková Z, Plevová P, Rašková D, Laštůvková J, Černý R, Bandúrová V, Koucký V, Hrubá S, Komarc M, Jenčík J, Poisson Marková S, Plzák J, Kluh J, Seeman P.

Eur Arch Otorhinolaryngol. 2019 Dec;276(12):3353-3358. doi: 10.1007/s00405-019-05649-5. Epub 2019 Sep 24.

PubMed [citation]
PMID:
31552524

Details of each submission

From Laboratory of Prof. Karen Avraham, Tel Aviv University, SCV001164296.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Mixed Jewishnot providednot providednot providedresearch PubMed (1)

Description

Recessive, congenital, moderate NSHL

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

Last Updated: May 7, 2024