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  3. USH2A
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Monogenic hearing loss

Gene: USH2A

Green List (high evidence)
USH2A (usherin)
EnsemblGeneIds (GRCh38): ENSG00000042781
EnsemblGeneIds (GRCh37): ENSG00000042781
OMIM: 608400, Gene2Phenotype
USH2A is in 8 panels

5 reviews

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 1 Jun 2018, 2:32 p.m.
Created: 1 Jun 2018, 2:32 p.m.

Panel version: 1.36

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Apr 2018, 4:14 p.m.

Panel version: 1.36

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#276901:Usher syndrome, type 2A[Hearing loss, congenital, sensorineural, moderate-severeNormal vestibular response; Retinitis pigmentosa, progressive]; #613809:Retinitis pigmentosa 39[<omim version=1.0><clinicalSynopsisList>]

Publications

Created: 7 Feb 2016, 8:59 a.m.

Panel version: 0.105

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 5:31 p.m.
Created: 29 Jan 2016, 5:31 p.m.

Panel version: 0.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • hearing loss
  • Usher syndrome, type 2A, 276901
  • #613809:Retinitis pigmentosa 39
OMIM
608400
Clinvar variants
Variants in USH2A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for USH2A were set to hearing loss; Usher syndrome, type 2A, 276901; #613809:Retinitis pigmentosa 39

23 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for USH2A were set to PMID: 10090909; 10729113; 10775529; 10909849; 11402400; 12160733; 12427073; 12525556; 14970843; 15015129; 15024643; 15025721; 16098008; 16301216; 16301217; 17085681; 17296898; 17360538; 17405132; 18273898; 18665195; 18826961; 19881469; 20440071; 20507924; 22009552; 25823529; 9624053

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for USH2A was changed to BIALLELIC, autosomal or pseudoautosomal

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

USH2A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

USH2A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

USH2A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

USH2A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert