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  3. TNC
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Deafness_Isolated

Gene: TNC

Amber List (moderate evidence)
TNC (tenascin C)
EnsemblGeneIds (GRCh38): ENSG00000041982
EnsemblGeneIds (GRCh37): ENSG00000041982
OMIM: 187380, Gene2Phenotype
TNC is in 3 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 33763067: mouse model where tenascin C was overexpressed, het mice show no distinct abnormalities. No discussions of hearing loss or ear defects.

PMID: 34093110: mouse model where tenascin C was knocked out, mice show ocular defects with retinal dysfunction. No discussions of hearing loss or ear defects.

PMID: 23936043: Two unrelated families reported. No new families
Created: 29 Jun 2021, 1:44 a.m. | Last Modified: 29 Jun 2021, 1:44 a.m.
Panel Version: 1.9

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

Phenotypes
Deafness, autosomal dominant 56, MIM# 615629

Publications

Created: 29 Jun 2021, 1:44 a.m.
Last Modified: 29 Jun 2021, 1:44 a.m.
Panel version: 1.9

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families reported.
Created: 2 Jan 2020, 5:46 a.m. | Last Modified: 2 Jan 2020, 5:46 a.m.
Panel Version: 0.214

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 56, MIM# 615629

Publications

Created: 2 Jan 2020, 5:46 a.m.
Last Modified: 2 Jan 2020, 5:46 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.214

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 56, MIM# 615629
OMIM
187380
Clinvar variants
Variants in TNC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jun 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TNC were set to 23936043

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Jul 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TNC was added gene: TNC was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: TNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNC were set to 23936043 Phenotypes for gene: TNC were set to Deafness, autosomal dominant 56, MIM# 615629