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 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787 (includes enamel pitting), Hypoplastic amelogenesis imperfecta
Green
in Corneal dystrophy
R-numbers: R262
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epithelial recurrent erosion dystrophy, OMIM:122400
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, junctional 4, intermediate, OMIM:619787