COL9A3

collagen type IX alpha 3 chain
OMIM: 120270
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 600969, Stickler syndrome
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MED, multiple epiphyseal dysplasia, Epiphyseal dysplasia, multiple, with myopathy, Stickler syndrome type VI, multiple epiphyseal dysplasia 3, with or without myopathy - 600969, Multiple Epiphyseal Dysplasia, Dominant, Mutiple Epiphyseal Dysplasia
R-numbers: R45
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome type VI, Mutiple Epiphyseal Dysplasia