COL9A1

collagen type IX alpha 1 chain
OMIM: 120210
PanelMode of inheritanceDetails
5 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type IV (ophthalmological: myopia, retinal detachment and cataracts, orofacial: micrognathia, midface hypoplasia and cleft palate, auditory:sensorineural hearing loss and articular: epiphyseal dysplasia) symptoms, Autosomal recessive Stickler syndrome, Orofacial Clefting with skeletal features, Cleft palate
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
STICKLER SYNDROME TYPE 4 614134, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 614135
R-numbers: R21
Signed-off version 1.92
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: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stickler syndrome, type IV 614134, Epiphyseal dysplasia, multiple, 6 614135
R-numbers: R45
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epiphyseal dysplasia, multiple, 6, 614135, Stickler syndrome, type IV, 614134, Stickler Syndrome, Recessive