COL7A1

collagen type VII alpha 1 chain
OMIM: 120120, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green COL7A1 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.22

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dystrophic epidermolysis bullosa

Amber COL7A1 in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.60

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Dystrophic epidermolysis bullosa

Green COL7A1 in Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.6

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
  • Dystrophic Epidermolysis Bullosa
  • Epidermolysis bullosa dystrophica (AD), 131750
  • Epidermolysis bullosa dystrophica (AR), 226600
  • Epidermolysis bullosa, pretibial (AR,AD), 131850
  • EBD, Bart type (AD), 132000
  • EBD inversa (AR), 226600
  • Transient bullous of the newborn (AR,AD), 131705

Green COL7A1 in Epidermolysis bullosa and congenital skin fragility


Version 1.49
Latest signed off version: v1.3 (15 Oct 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa dystrophica (AD), OMIM:131750
  • Epidermolysis bullosa, pretibial (AR,AD), OMIM:131850
  • Epidermolysis bullosa dystrophica (AR), OMIM:226600
  • EBD, Bart type (AD), OMIM:132000
  • Epidermolysis bullosa pruriginosa, OMIM:604129
  • Transient bullous of the newborn (AR,AD), OMIM:131705
  • EBD inversa (AR), OMIM:226600

Amber COL7A1 in Primary immunodeficiency


Version 2.465
Latest signed off version: v2.1 (24 Feb 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Very Early Onset Inflammatory Bowel Disease
  • Dystrophic Epidermolysis Bullosa Pruriginosa

Green COL7A1 in Severe Paediatric Disorders


Version 1.84

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Epidermolysis bullosa dystrophica, AD, 131750
  • EBD inversa, 226600
  • EBD, localisata variant
  • Epidermolysis bullosa pruriginosa, 604129
  • Toenail dystrophy, isolated, 607523
  • Epidermolysis bullosa dystrophica, AR, 226600
  • Epidermolysis bullosa, pretibial, 131850
  • Transient bullous of the newborn, 131705
  • EBD, Bart type, 132000