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  3. CDH23
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Deafness_Isolated

Gene: CDH23

Green List (high evidence)
CDH23 (cadherin related 23)
EnsemblGeneIds (GRCh38): ENSG00000107736
EnsemblGeneIds (GRCh37): ENSG00000107736
OMIM: 605516, Gene2Phenotype
CDH23 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type 1D (MIM# 601067); Deafness, autosomal recessive 12 (MIM # 601386); Usher syndrome, type 1D/F digenic (MIM #601067)

Publications

Created: 19 Feb 2020, 7:22 a.m.
Last Modified: 19 Feb 2020, 7:22 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.310

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 12 (MIM # 601386)
  • Usher syndrome, type 1D/F digenic (MIM #601067)
  • Usher syndrome, type 1D (MIM# 601067)
OMIM
605516
Clinvar variants
Variants in CDH23
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdh23 has been classified as Green List (High Evidence).

21 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDH23 was added gene: CDH23 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDH23 were set to 25468891; 11138009; 21940737 Phenotypes for gene: CDH23 were set to Deafness, autosomal recessive 12 (MIM # 601386); Usher syndrome, type 1D/F digenic (MIM #601067); Usher syndrome, type 1D (MIM# 601067)