1. Panels
  2. Monogenic hearing loss
  3. USH1G
Genes in panel
Prev Next
STRs in panel
Prev Next

Monogenic hearing loss

Gene: USH1G

Green List (high evidence)
USH1G (USH1 protein network component sans)
EnsemblGeneIds (GRCh38): ENSG00000182040
EnsemblGeneIds (GRCh37): ENSG00000182040
OMIM: 607696, Gene2Phenotype
USH1G 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, 2:33 p.m.
Created: 1 Jun 2018, 2:33 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, 4:13 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
#606943:Usher syndrome, type 1G[Hearing loss, profound congenitalVestibular dysfunction; Retinitis pigmentosa; Caused by mutation in the scaffold protein containing ankyrin repeats and SAM domain gene (SANS,)]

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, 5:29 p.m.
Created: 29 Jan 2016, 5:29 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 1G, 606943
OMIM
607696
Clinvar variants
Variants in USH1G
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 USH1G were set to hearing loss; Usher syndrome, type 1G, 606943

23 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for USH1G were set to PMID: 12588793; 12588794; 1442008; 15590703; 15660226; 17906286; 21044053; 21311020; 24608321

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for USH1G 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)

USH1G 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)

USH1G 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)

USH1G 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)

USH1G was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert