CDSN

corneodesmosin
OMIM: 602593, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green CDSN in Non-syndromic hypotrichosis

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Hypotrichosis 2, OMIM:146520
Green CDSN in Peeling skin syndrome

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.5

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 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.
Green CDSN in Ichthyosis and erythrokeratoderma


Level 2: Dermatology
Version 4.12
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Peeling skin syndrome 1, OMIM:270300
Green CDSN in Epidermolysis bullosa and congenital skin fragility


Level 2: Dermatology
Version 2.13
Latest signed off version: v2.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 1, OMIM:270300
Green CDSN in Ectodermal dysplasia


Level 2: Dermatology
Version 4.27
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hypotrichosis 2, OMIM:146520
Green CDSN in Palmoplantar keratodermas


Level 2: Dermatology
Version 4.9
Latest signed off version: v4.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Desmosomal disorders