COL18A1

collagen type XVIII alpha 1 chain
OMIM: 120328
PanelMode of inheritanceDetails
6 panels
R-numbers: R31
Signed-off version 4.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Knobloch syndrome, type 1, OMIM:267750
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Knobloch syndrome, type 1, OMIM:267750
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Knobloch syndrome, type 1, OMIM:267750
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Knobloch syndrome, type 1, OMIM:267750
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Knobloch syndrome, type 1, OMIM:267750
R-numbers: R36
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Knobloch syndrome, type 1, OMIM:267750