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Hearing loss

Gene: CDH23

Green List (high evidence)

CDH23 (cadherin related 23)
EnsemblGeneIds (GRCh38): ENSG00000107736
EnsemblGeneIds (GRCh37): ENSG00000107736
OMIM: 605516, Gene2Phenotype
CDH23 is in 12 panels

5 reviews

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Inheritance: Autosomal Recessive; Digenic Recessive
Created: 10 Apr 2018, 10:41 a.m.

Mode of inheritance
Other

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

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.

Jun Shen (Harvard Medical School)

Inheritance:Autosomal recessive;Digenic recessive
Created: 9 Feb 2016, 10:05 a.m.
Inheritance:Digenic recessive;Autosomal recessive
Created: 7 Feb 2016, 3:39 p.m.
Inheritance:Autosomal recessive,Digenic recessive
Created: 7 Feb 2016, 9:20 a.m.
Inheritance:Autosomal recessive
Created: 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

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 3:03 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • hearing loss
  • Usher syndrome, type 1D, 601067
  • Deafness, autosomal recessive 12, 601386
  • Usher syndrome, type 1D/F digenic, 601067
  • Nonsyndromic Hearing Loss, Recessive
OMIM
605516
Clinvar variants
Variants in CDH23
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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;

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

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

17 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CDH23 was changed to BIALLELIC, autosomal or pseudoautosomal

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CDH23 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CDH23 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CDH23 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CDH23 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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