COL17A1

collagen type XVII alpha 1 chain
OMIM: 113811
PanelMode of inheritanceDetails
3 panels
R-numbers: R340
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting), Amelogenesis Imperfecta, non-Herlitz junctional epidermolysis bullosa (nH-JEB) and amelogenesis imperfecta, hypoplastic amelogenesis imperfecta
R-numbers: R262
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epithelial recurrent erosion dystrophy 122400
R-numbers: R164
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Generalised intermediate junctional Epidermolysis bullosa, Epidermolysis bullosa, junctional, non-Herlitz type, 226650, Junctional Epidermolysis Bullosa