COL9A2

collagen type IX alpha 2 chain
OMIM: 120260
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 600204, STICKLER SYNDROME, TYPE V 614284
R-numbers: R21
Signed-off version 1.92
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: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Epiphyseal dysplasia, multiple, 2 600204, Stickler syndrome, type V 614284, Stickler syndrome, type V, 614284, {Intervertebral disc disease, susceptibility to}, 603932
R-numbers: R45
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epiphyseal dysplasia, multiple, 2, 600204, {Intervertebral disc disease, susceptibility to}, 603932, Stickler syndrome, type V, 614284