Epidermolysis bullosa and congenital skin fragility
Gene: CDSNComment on phenotypes: Previous phenotypes:
OMIM:#270300;Peeling skin HP:0040189;erythema HP:0010783;Allergy HP:0012393;Peeling skin syndrome 1, 270300;Hyperkeratosis HP:0000962.;Generalised erythroderma HP:0001019;PSS1;Increased IgE level HP:0003212;Pruritus HP:0000989Created: 24 Mar 2021, 11:01 a.m. | Last Modified: 24 Mar 2021, 11:01 a.m.
Panel Version: 1.9
Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling.Created: 14 Jan 2019, 2:56 p.m.
Comment Imported from Peeling skin syndrome panel: 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 Imported from Peeling skin syndrome panel: 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.
Comment Imported from Peeling skin syndrome panel: 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 OMIM:#270300; Peeling skin HP:0040189; erythema HP:0010783; Allergy HP:0012393; Peeling skin syndrome 1, 270300; Hyperkeratosis HP:0000962.; Generalised erythroderma HP:0001019; PSS1; Increased IgE level HP:0003212; Pruritus HP:0000989 to Peeling skin syndrome 1, OMIM:270300
Publications for gene: CDSN were set to 21191406; 22146835; 23957618; PMID: 20691404
gene: CDSN was added gene: CDSN was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDSN were set to 21191406; 22146835; 23957618; PMID: 20691404 Phenotypes for gene: CDSN were set to OMIM:#270300; Peeling skin HP:0040189; erythema HP:0010783; Allergy HP:0012393; Peeling skin syndrome 1, 270300; Hyperkeratosis HP:0000962.; Generalised erythroderma HP:0001019; PSS1; Increased IgE level HP:0003212; Pruritus HP:0000989