Ichthyosis
Gene: CDSNEnsemblGeneIds (GRCh38): ENSG00000204539
EnsemblGeneIds (GRCh37): ENSG00000204539
OMIM: 602593, Gene2Phenotype
CDSN is in 8 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least 3 unrelated families reported with biallelic/homozygous variants. Cdsn -/- mice died within several hours after birth with skin defects consistent with dehydration caused by defective skin barrier function.
Sources: Expert listCreated: 31 Jan 2020, 12:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peeling skin syndrome 1 MIM#270300; ichthyosiform erythroderma
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- 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
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
Bryony Thompson (Royal Melbourne Hospital)gene: CDSN was added gene: CDSN was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDSN were set to 24794518; 18436651; 20691404; 21191406 Phenotypes for gene: CDSN were set to Peeling skin syndrome 1 MIM#270300; ichthyosiform erythroderma Review for gene: CDSN was set to GREEN