Ichthyosis

Gene: CDSN

Green List (high evidence)

CDSN (corneodesmosin)
EnsemblGeneIds (GRCh38): ENSG00000204539
EnsemblGeneIds (GRCh37): ENSG00000204539
OMIM: 602593, Gene2Phenotype
CDSN is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 list
Created: 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

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

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: 1

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