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Mendeliome

Gene: TECTA

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Both recessive and dominant deafness associations assessed as DEFINITIVE by ClinGen.
Created: 17 Apr 2020, 8:34 a.m. | Last Modified: 17 Apr 2020, 8:34 a.m.
Panel Version: 0.2328

Elena Savva (Victorian Clinical Genetics Services)

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
Created: 17 Apr 2020, 4:54 a.m. | Last Modified: 17 Apr 2020, 4:54 a.m.
Panel Version: 0.2303

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tecta has been classified as Green List (High Evidence).

17 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TECTA were changed from to Deafness, autosomal recessive 21 603629; Deafness, autosomal dominant 8/12 601543

17 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TECTA were set to

17 Apr 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: TECTA was changed from to Other

17 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TECTA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TECTA was added gene: TECTA was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TECTA was set to Unknown