Palmoplantar Keratoderma and Erythrokeratoderma
Gene: CDSNEnsemblGeneIds (GRCh38): ENSG00000204539
EnsemblGeneIds (GRCh37): ENSG00000204539
OMIM: 602593, Gene2Phenotype
CDSN is in 8 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
Associated with peeling skin syndrome, affected individuals have skin peeling, hyperkeratosis and erythema.
At least 4 unrelated individuals reported, all with LoF variants.
Sources: LiteratureCreated: 19 Aug 2020, 4:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peeling skin syndrome 1 MIM#270300
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Peeling skin syndrome 1 MIM#270300
- OMIM
- 602593
- Clinvar variants
- Variants in CDSN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdsn has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdsn has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: CDSN was added gene: CDSN was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDSN were set to 23957618; 22146835; 20691404; 21191406 Phenotypes for gene: CDSN were set to Peeling skin syndrome 1 MIM#270300 gene: CDSN was marked as current diagnostic