Deafness_Isolated
Gene: TECTA

TECTA (tectorin alpha)
EnsemblGeneIds (GRCh38): ENSG00000109927
EnsemblGeneIds (GRCh37): ENSG00000109927
OMIM: 602574, Gene2Phenotype
TECTA is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Generally, inactivating mutations (frameshift, splice and nonsense) in TECTA cause the recessive form of inherited deafness (also known as DFNB21 or ARNSHL) while missense variants are autosomal dominant (also known as DFNA8/12 or ADNSHL) AR - LOF AD - dominant negative speculated, not proven. Both recessive and dominant deafness associations assessed as DEFINITIVE by ClinGen.
Created: 17 Apr 2020, 8:36 a.m. | Last Modified: 17 Apr 2020, 8:36 a.m.

Panel Version: 0.333

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 21 603629; Deafness, autosomal dominant 8/12 601543

Publications

Created: 17 Apr 2020, 8:36 a.m.
Last Modified: 17 Apr 2020, 8:36 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.333

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Deafness Flagship
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, autosomal recessive 21 603629
Deafness, autosomal dominant 8/12 601543

OMIM

602574

Clinvar variants

Variants in TECTA

Penetrance

None

Publications

Panels with this gene