CDSN

corneodesmosin
OMIM: 602593, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green CDSN in Desmosomal disorders Level 2: Dermatological disorders Version 0.33	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 1.15	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 1.11	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 1.1902	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 0.132	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 0.71	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	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypotrichosis
Red CDSN in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Peeling skin syndrome 1, MIM#270300