Desmosomal disorders
Gene: CDSN
CDSN (corneodesmosin)
EnsemblGeneIds (GRCh38): ENSG00000204539
EnsemblGeneIds (GRCh37): ENSG00000204539
OMIM: 602593, Gene2Phenotype
CDSN is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000204539
EnsemblGeneIds (GRCh37): ENSG00000204539
OMIM: 602593, Gene2Phenotype
CDSN is in 8 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Peeling skin syndrome 1 MIM#270300
- ichthyosiform erythroderma
- OMIM
- 602593
- Clinvar variants
- Variants in CDSN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
31 Jan 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdsn has been classified as Green List (High Evidence).
31 Jan 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CDSN were changed from to Peeling skin syndrome 1 MIM#270300; ichthyosiform erythroderma
31 Jan 2020, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CDSN were set to
31 Jan 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CDSN 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: CDSN was added gene: CDSN was added to Desmosomal disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CDSN was set to Unknown