COL7A1

collagen type VII alpha 1 chain
OMIM: 120120, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber COL7A1 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Dystrophic epidermolysis bullosa
Amber COL7A1 in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.75	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 1.11	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 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
Green COL7A1 in Epidermolysis bullosa and congenital skin fragility Version 2.7 Latest signed off version: v2.2 (22 Mar 2023)	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
Green COL7A1 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Very Early Onset Inflammatory Bowel Disease Inflammatory Bowel Disease Dystrophic Epidermolysis Bullosa Pruriginosa
Green COL7A1 in Severe Paediatric Disorders Version 1.184	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