COL9A2

collagen type IX alpha 2 chain
OMIM: 120260
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 600204, STICKLER SYNDROME, TYPE V 614284
R-numbers: R21, R412
Signed-off version 3.122
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2, STICKLER SYNDROME, TYPE V
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type V, OMIM:614284
R-numbers: R32
Signed-off version 4.42
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type V, OMIM:614284
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type V, OMIM:614284, Epiphyseal dysplasia, multiple, 2, OMIM:600204
R-numbers: R45
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type V, OMIM:614284