Peeling skin syndrome

Gene: CDSN

Green List (high evidence)

CDSN (corneodesmosin)
EnsemblGeneIds (GRCh38): ENSG00000204539
EnsemblGeneIds (GRCh37): ENSG00000204539
OMIM: 602593, Gene2Phenotype
CDSN is in 6 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Expert review for CDSN is green and >3 cases in OMIM.
Created: 5 Dec 2016, 10:15 a.m.
Comment on list classification:
Updated rating from Red to Green: Expert review for CDSN is green, and >3 cases in OMIM from families of different ethnic origin.
Created: 2 Dec 2016, 10:57 a.m.
Mode of inheritance is confirmed by OMIM, which reports 4 unrelated cases of mutations in CDSN for Peeling skin syndrome 1/PSS1 (OMIM:270300).
Created: 1 Dec 2016, 4:26 p.m.

Phenotypes
Peeling skin syndrome 1, 270300; PSS1

David Kelsell (Queen Mary University of London)

Green List (high evidence)

phenotypes as described in submitted details
Created: 3 May 2016, 1:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peeling skin syndrome 1, 270300
  • PSS1
  • OMIM:#270300
  • Peeling skin HP:0040189
  • Pruritus HP:0000989
  • Allergy HP:0012393
  • Increased IgE level HP:0003212
  • Generalised erythroderma HP:0001019
  • erythema HP:0010783
  • Hyperkeratosis HP:0000962.
OMIM
602593
Clinvar variants
Variants in CDSN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Dec 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

12 December 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.

5 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

2 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

1 Dec 2016, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene CDSN were set to Peeling skin syndrome 1, 270300; PSS1; OMIM:#270300; Peeling skin HP:0040189; Pruritus HP:0000989; Allergy HP:0012393; Increased IgE level HP:0003212; Generalised erythroderma HP:0001019; erythema HP:0010783; Hyperkeratosis HP:0000962.

27 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CDSN was created by ellenmcdonagh

27 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CDSN was added to Peeling skin syndromepanel. Sources: Literature