Monogenic hearing loss
Gene: DFNB59New review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
New approved HGNC gene symbol is PJVKCreated: 4 Jul 2017, 3:53 p.m.
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:16 p.m.
Publications for DFNB59 were set to PMID: 16804542; 17301963; 17329413; 17373699; 17718865
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene DFNB59 was changed to BIALLELIC, autosomal or pseudoautosomal
DFNB59 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene DFNB59 was changed to BIALLELIC, autosomal or pseudoautosomal
DFNB59 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene DFNB59 was changed to BIALLELIC, autosomal or pseudoautosomal
DFNB59 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene DFNB59 was changed to BIALLELIC, autosomal or pseudoautosomal
DFNB59 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert
DFNB59 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert