DSG4

desmoglein 4
OMIM: 607892, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green DSG4 in Non-syndromic hypotrichosis Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.15	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Other Phenotypes Hereditary hypotrichosis simplex (HHS) Hypotrichosis simplex (HS) localized autosomal recessive hypotrichosis-1 (LAH1) Autosomal recessive hypotrichosis Hypotrichosis 6, 607903 HYPT6 Localized AR Hypotrichosis localized autosomal recessive hypotrichosis Hypotrichosis with broken hairs and follicular hyperkeratosis (variable severity and extent) Tags deletions
Green DSG4 in Ectodermal dysplasia Level 2: Dermatology Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HYPT6 localized autosomal recessive hypotrichosis-1 (LAH1) Hypotrichosis with broken hairs and follicular hyperkeratosis (variable severity and extent) Autosomal recessive hypotrichosis Hereditary hypotrichosis simplex (HHS) Localized AR Hypotrichosis localized autosomal recessive hypotrichosis Hypotrichosis 6, 607903 Hypotrichosis simplex (HS)
Green DSG4 in Palmoplantar keratodermas Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Desmosomal disorders