COL7A1

collagen type VII alpha 1 chain
OMIM: 120120
PanelMode of inheritanceDetails
1 panel
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