ClinGen Gene Validity Curations

Gene: CDH23

Green List (high evidence)

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

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.
Source: ClinGen Gene Validity Classification Summary. Determined as DEFINITIVE by calculated classification (dated: 09/15/2016) and DEFINITIVE by Expert curation, Reviewed by the ClinGen Hearing Loss Working Group (dated 01/30/2017). Available here: https://search.clinicalgenome.org/kb/gene-validity/5610
Created: 19 Apr 2017, 1:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Usher Syndrome, Type 1
  • OrphaNet 231169
  • OMIM 276900
OMIM
605516
Clinvar variants
Variants in CDH23
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CDH23 was added to ClinGen Gene Validity Curationspanel. Source: ClinGen

19 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

19 Apr 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CDH23 was added to ClinGen Gene Validity Curationspanel. Sources: Other

19 Apr 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CDH23 was created by ellenmcdonagh