DSG1:Ensemblv90

desmoglein 1
OMIM: 125670, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green DSG1 in Desmosomal disorders Level 2: Dermatological disorders Version 0.33	1 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 1.22	2 reviews	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 1.3802	1 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 0.137	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green DSG1 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.138 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Phenotypes severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0014218
Green DSG1 in Hyper-IgE syndrome Level 2: Immunological disorders Version 1.6	1 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 1.482	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508)
Green DSG1 in Desmosomal disorders Level 2: Dermatological disorders Version 1.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green 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 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Expert Review Green 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 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green DSG1 in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Literature Expert Review Green Phenotypes severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0014218
Green DSG1 in Hyper-IgE syndrome Level 2: Immunological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Expert Review Green Phenotypes Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE MIM#615508