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Hearing loss

Gene: TNC

Amber List (moderate evidence)

TNC (tenascin C)
EnsemblGeneIds (GRCh38): ENSG00000041982
EnsemblGeneIds (GRCh37): ENSG00000041982
OMIM: 187380, Gene2Phenotype
TNC is in 1 panel

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changed rating from red to amber as there are 2 reported cases with plausible pathogenic variants in TNC. No functional data.
Created: 27 Feb 2019, 11 a.m.
TNC is associated with Deafness, autosomal dominant 56 (615629) in OMIM (AD).

PMID: 23936043 - Zhao et al 2013 - 2 unrelated Chinese families (one with 11 affected members, 37 known unaffected) with autosomal dominant deafness-56. In each family a different heterozygous missense mutation was identified in the TNC gene ( c.5317G>A, p.V1773M and c.5368A>T, p. T1796S). Both co-segregating with phenotype in each family. Both mutations located in the conserved region of TNC and were absent in the 387 normal hearing individuals of matched geographical ancestry. Functional effects of the two mutations were predicted using SIFT and both mutations were deleterious.
Created: 27 Feb 2019, 10:59 a.m.

Emma Ashton (Great Ormond Street Hospital)

I don't know

Zhao et al 2013 PMID 23936043. Report one TNC missense segregating with HL in 53 members of 1 family. Screening of 587 further probands identified 1 more missense variant. DFNA56 #615629
Created: 17 Feb 2019, 4:35 p.m.

Publications

Jun Shen (Harvard Medical School)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#615629:Deafness, autosomal dominant 56[Hearing loss, postlingual progressive sensorineural]

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness, autosomal dominant 56, 615629
OMIM
187380
Clinvar variants
Variants in TNC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Feb 2019, Gel status: 2

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: TNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: tnc has been classified as Amber List (Moderate Evidence).

27 Feb 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: TNC were set to

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TNC was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TNC was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert