Genomics England
GMS Panels
Panels
Genes and Entities

COL7A1

collagen type VII alpha 1 chain
OMIM: 120120
PanelMode of inheritanceDetails
2 panels
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Very Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease, Dystrophic Epidermolysis Bullosa Pruriginosa