Monogenic hearing loss
Gene: USH1GNew review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
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
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 5:29 p.m.
Phenotypes for USH1G were set to hearing loss; Usher syndrome, type 1G, 606943
Publications for USH1G were set to PMID: 12588793; 12588794; 1442008; 15590703; 15660226; 17906286; 21044053; 21311020; 24608321
Mode of inheritance for USH1G was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
USH1G was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
USH1G was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
USH1G was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
USH1G was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert