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Deafness_IsolatedAndComplex

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

Details

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

History Filter Activity

19 Feb 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).

19 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDH23 were changed from to Usher syndrome, type 1D (MIM# 601067); Deafness, autosomal recessive 12 (MIM # 601386); Usher syndrome, type 1D/F digenic (MIM #601067)

19 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDH23 were set to

19 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CDH23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDH23 was added gene: CDH23 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: CDH23 was set to Unknown