DSG1

desmoglein 1
OMIM: 125670, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green DSG1 in Desmosomal disorders Level 2: Dermatological disorders Version 0.33	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508) Keratosis palmoplantaris striata I, AD (MIM# 148700)
Green DSG1 in Epidermolysis bullosa Level 2: Dermatological disorders Version 1.15	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508) Keratosis palmoplantaris striata I, AD (MIM# 148700)
Green DSG1 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508) Keratosis palmoplantaris striata I, AD (MIM# 148700)
Green DSG1 in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.132	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green DSG1 in Hyper-IgE syndrome Level 2: Immunological disorders Version 1.5 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE MIM#615508
Amber DSG1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508)