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  3. CDSN
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Hair disorders

Gene: CDSN

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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.
Created: 31 Jan 2020, 9:35 a.m. | Last Modified: 31 Jan 2020, 9:35 a.m.
Panel Version: 0.1092

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peeling skin syndrome 1 MIM#270300; ichthyosiform erythroderma

Publications

Created: 31 Jan 2020, 9:35 a.m.
Last Modified: 31 Jan 2020, 9:35 a.m.
Panel version: Imported from Mendeliome panel version 0.1092

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypotrichosis 2, 146520
OMIM
602593
Clinvar variants
Variants in CDSN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

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 Hair disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDSN were set to 31332722 Phenotypes for gene: CDSN were set to Hypotrichosis 2, 146520