COL17A1

collagen type XVII alpha 1 chain
OMIM: 113811, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green COL17A1 in Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.9

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


Version 1.53
Latest signed off version: v1.3 (15 Oct 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787

Green COL17A1 in Corneal dystrophies


Version 1.13
Latest signed off version: v1.2 (19 Feb 2020)

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 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.20
Latest signed off version: v2.2 (13 Feb 2020)

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

Green COL17A1 in Severe Paediatric Disorders


Version 1.127

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Epidermolysis bullosa, junctional, localisata variant, 226650
  • Epithelial recurrent erosion dystrophy, 122400
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650