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 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa dystrophica (AD), 131750, Epidermolysis bullosa, pretibial (AR,AD), 131850, Epidermolysis bullosa dystrophica (AR), 226600, EBD, Bart type (AD), 132000, Dystrophic Epidermolysis Bullosa, Transient bullous of the newborn (AR,AD), 131705, EBD inversa (AR), 226600
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Very Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease, Dystrophic Epidermolysis Bullosa Pruriginosa