Monogenic hearing loss
Gene: CLDN14New review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#614035:Deafness, autosomal recessive 29[Sensorineural hearing loss, severe to profoundAffects all frequenciesGreater loss of high frequenciesDownward sloping audiogram]
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:05 p.m.
Phenotypes for CLDN14 were set to hearing loss; Nonsyndromic Hearing Loss, Recessive; #614035:Deafness, autosomal recessive 29
Publications for CLDN14 were set to PMID:10830953; 11163249; 12913076; 15880785; 19561606; 22246673
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene CLDN14 was changed to BIALLELIC, autosomal or pseudoautosomal
CLDN14 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Expert
Model of inheritance for gene CLDN14 was changed to BIALLELIC, autosomal or pseudoautosomal
CLDN14 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Expert
Model of inheritance for gene CLDN14 was changed to BIALLELIC, autosomal or pseudoautosomal
CLDN14 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Expert
Model of inheritance for gene CLDN14 was changed to BIALLELIC, autosomal or pseudoautosomal
CLDN14 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Expert
CLDN14 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Expert