Monogenic hearing loss
Gene: GRXCR1New review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#613285:Deafness, autosomal recessive 25[Hearing loss, sensorineural, progressive (moderate to severe progress in some patients to profound hearing loss)Vestibular involvement (in some patients)]
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:32 p.m.
Publications for GRXCR1 were set to PMID:15347914; 20137774; 20137778
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene GRXCR1 was changed to BIALLELIC, autosomal or pseudoautosomal
GRXCR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene GRXCR1 was changed to BIALLELIC, autosomal or pseudoautosomal
GRXCR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene GRXCR1 was changed to BIALLELIC, autosomal or pseudoautosomal
GRXCR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene GRXCR1 was changed to BIALLELIC, autosomal or pseudoautosomal
GRXCR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
GRXCR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert