COL18A1

collagen type XVIII alpha 1 chain
OMIM: 120328
PanelMode of inheritanceDetails
6 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Knobloch syndrome, high myopia, cataracts, vitreoretinal degeneration, retinal detachment
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
KNOBLOCH SYNDROME TYPE I 267750
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
KNOBLOCH SYNDROME TYPE I
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Knobloch syndrome, type 1 267750
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Knobloch Syndrome Type I, 267750
R-numbers: R36
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Knobloch syndrome, type 1, 267750