Monogenic hearing loss
Gene: CDH23
Inheritance: Autosomal Recessive; Digenic RecessiveCreated: 10 Apr 2018, 10:41 a.m.
Mode of inheritance
Other
New review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:39 p.m.
Comment on mode of inheritance: It seems that inheritance can be biallelic or digenic recessive; here this is represented as biallelic for this particular gene.Created: 17 Feb 2016, 12:24 p.m.
Inheritance:Autosomal recessive;Digenic recessiveCreated: 9 Feb 2016, 10:05 a.m.
Inheritance:Digenic recessive;Autosomal recessiveCreated: 7 Feb 2016, 3:39 p.m.
Inheritance:Autosomal recessive,Digenic recessiveCreated: 7 Feb 2016, 9:20 a.m.
Inheritance:Autosomal recessiveCreated: 7 Feb 2016, 8:54 a.m.
Mode of inheritance
Other
Phenotypes
#601067:Usher syndrome, type 1D/F digenic[Hearing loss, congenital profoundVestibular dysfunction; Retinitis pigmentosa]; #601386:Deafness, autosomal recessive 12[Hearing loss, profound prelingual sensorineural; No retinitis pigmentosa]
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:03 p.m.
Phenotypes for CDH23 were set to hearing loss; Usher syndrome, type 1D, 601067; Deafness, autosomal recessive 12, 601386; Usher syndrome, type 1D/F digenic, 601067; Nonsyndromic Hearing Loss, Recessive;
Publications for CDH23 were set to PMID: 11090341; 11138008; 11138009; 11857743; 12075507; 12407180; 12485990; 12522556; 12910270; 15358736; 15537665; 15829536; 17805295; 17850630; 19270079; 20399731; 20639393; 21228398; 21940737; 23135401; 2706105
Mode of inheritance for CDH23 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene CDH23 was changed to BIALLELIC, autosomal or pseudoautosomal
CDH23 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 CDH23 was changed to BIALLELIC, autosomal or pseudoautosomal
CDH23 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 CDH23 was changed to BIALLELIC, autosomal or pseudoautosomal
CDH23 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 CDH23 was changed to BIALLELIC, autosomal or pseudoautosomal
CDH23 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
CDH23 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