Monogenic hearing loss
Gene: TNCComment 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.
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 #615629Created: 17 Feb 2019, 4:35 p.m.
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#615629:Deafness, autosomal dominant 56[Hearing loss, postlingual progressive sensorineural]
Publications
Mode of inheritance for gene: TNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: tnc has been classified as Amber List (Moderate Evidence).
Publications for gene: TNC were set to
TNC was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert
TNC was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert