This Panel is marked as Internal
ClinGen Gene Validity Curations
Gene: CDH23
CDH23 (cadherin related 23)
EnsemblGeneIds (GRCh38): ENSG00000107736
EnsemblGeneIds (GRCh37): ENSG00000107736
OMIM: 605516, Gene2Phenotype
CDH23 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000107736
EnsemblGeneIds (GRCh37): ENSG00000107736
OMIM: 605516, Gene2Phenotype
CDH23 is in 11 panels
1 review
Ellen McDonagh (Genomics England Curator)
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/5610Created: 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
Created
Ellen McDonagh (Genomics England Curator)CDH23 was created by ellenmcdonagh
19 Apr 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CDH23 was added to ClinGen Gene Validity Curationspanel. Sources: Other