Genomics England
GMS Panels
Panels
Genes and Entities

COL17A1

collagen type XVII alpha 1 chain
OMIM: 113811
PanelMode of inheritanceDetails
3 panels
Green
in Amelogenesis imperfecta
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
Green
in Corneal dystrophies
R-numbers: R262
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epithelial recurrent erosion dystrophy 122400
Green
in Epidermolysis bullosa and congenital skin fragility
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