COL9A1

collagen type IX alpha 1 chain
OMIM: 120210
PanelMode of inheritanceDetails
7 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type IV, OMIM:614134
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
STICKLER SYNDROME TYPE 4 614134, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 614135
R-numbers: R21, R412
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
STICKLER SYNDROME TYPE 4, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type IV, OMIM:614134, Hearing loss
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type IV, OMIM:614134
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type IV, OMIM:614134, Epiphyseal dysplasia, multiple, 6, OMIM:614135
R-numbers: R45
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type IV, OMIM:614134