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  2. Deafness_Isolated
  3. USH2A
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Deafness_Isolated

Gene: USH2A

Green List (high evidence)
USH2A (usherin)
EnsemblGeneIds (GRCh38): ENSG00000042781
EnsemblGeneIds (GRCh37): ENSG00000042781
OMIM: 608400, Gene2Phenotype
USH2A is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, DEFINITIVE by ClinGen.
Created: 3 Oct 2020, 2:23 a.m. | Last Modified: 3 Oct 2020, 2:23 a.m.
Panel Version: 0.561

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type 2A, MIM# 276901

Created: 3 Oct 2020, 2:23 a.m.
Last Modified: 3 Oct 2020, 2:23 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.561

Details

Mode of Inheritance
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
  • Usher syndrome, type 2A, MIM# 276901
OMIM
608400
Clinvar variants
Variants in USH2A
Penetrance
None
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ush2a has been classified as Green List (High Evidence).

3 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: USH2A were changed from to Usher syndrome, type 2A, MIM# 276901

3 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: USH2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

21 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: USH2A was added gene: USH2A was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: USH2A was set to Unknown