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  3. USH2A
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Usher Syndrome

Gene: USH2A

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

2 reviews

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

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established disease gene for retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. Protein truncating variants mostly resulted in Usher syndrome rather than non-syndromic RP (PMID:26927203).
Created: 7 Apr 2020, 3:45 a.m. | Last Modified: 7 Apr 2020, 3:45 a.m.
Panel Version: 0.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 39, MIM#613809; Usher syndrome, type 2A, MIM#276901

Publications

Created: 7 Apr 2020, 3:45 a.m.
Last Modified: 7 Apr 2020, 3:45 a.m.
Panel version: 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 2A, 276901
  • Retinitis pigmentosa 39, 613809
OMIM
608400
Clinvar variants
Variants in USH2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 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).

7 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: USH2A were set to

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: USH2A was added gene: USH2A was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USH2A were set to Usher syndrome, type 2A, 276901; Retinitis pigmentosa 39, 613809