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 1.9

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 1.2

review 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.

Green CDSN in Epidermolysis bullosa and congenital skin fragility


Version 1.49
Latest signed off version: v1.3 (15 Oct 2020)

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

Green CDSN in Ectodermal dysplasia


Version 1.26
Latest signed off version: v1.10 (15 Oct 2020)

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

Green CDSN in Palmoplantar keratodermas


Version 1.9
Latest signed off version: v1.3 (15 Oct 2020)

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

Green CDSN in Severe Paediatric Disorders


Version 1.84

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Peeling skin syndrome 1, 270300
  • Hypotrichosis 2, 146520