CDSN

corneodesmosin
OMIM: 602593, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green CDSN in Desmosomal disorders


Level 2: Dermatological disorders
Version 0.33

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peeling skin syndrome 1 MIM#270300
  • ichthyosiform erythroderma

Green CDSN in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.22

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peeling skin syndrome 1 (MIM#270300)

Green CDSN in Ichthyosis


Level 2: Dermatological disorders
Version 1.13

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Peeling skin syndrome 1 MIM#270300
  • ichthyosiform erythroderma

Green CDSN in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peeling skin syndrome 1 MIM#270300
  • ichthyosiform erythroderma

Green CDSN in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.136

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peeling skin syndrome 1 MIM#270300

Green CDSN in Hair disorders


Level 2: Dermatological disorders
Version 0.81

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypotrichosis 2, 146520

Green CDSN in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypotrichosis

Red CDSN in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.140

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Peeling skin syndrome 1, MIM#270300