COL17A1

collagen type XVII alpha 1 chain
OMIM: 113811, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green COL17A1 in Epidermolysis bullosa Level 3: Skin fragility disorders Level 2: Dermatological disorders Version 1.12	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787
Green COL17A1 in Epidermolysis bullosa and congenital skin fragility Level 2: Dermatology Version 2.13 Latest signed off version: v2.2 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787
Green COL17A1 in Corneal dystrophy Level 2: Ophthalmology Version 4.7 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Wessex and West Midlands GLH Phenotypes Epithelial recurrent erosion dystrophy, OMIM:122400
Green COL17A1 in Amelogenesis imperfecta Level 2: Musculoskeletal Version 4.30 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Eligibility statement prior genetic testing Phenotypes Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787 (includes enamel pitting) Hypoplastic amelogenesis imperfecta Tags monogenic-polygenic