Peeling skin syndrome
Gene: CDSNComment 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
phenotypes as described in submitted detailsCreated: 3 May 2016, 1:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDSN were changed from 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. to Peeling skin syndrome 1, 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.
12 December 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
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.
CDSN was created by ellenmcdonagh
CDSN was added to Peeling skin syndromepanel. Sources: Literature