COL11A1

collagen type XI alpha 1 chain
OMIM: 120280
PanelMode of inheritanceDetails
6 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Marshall Syndrome, Stickler syndrome
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Orofacial Clefting with skeletal features, Stickler Syndrome, 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 II 604841, FIBROCHONDROGENESIS 228520
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
FIBROCHONDROGENESIS, STICKLER SYNDROME, TYPE II
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type II 604841, Marshall syndrome 154780, Fibrochondrogenesis 1 228520
R-numbers: R45
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type II, 604841, Retinitis pigmentosa 45, 613767, Achromatopsia-3, 262300{Autism susceptibility 15}, 612100, Marshall syndrome, 154780, {Lumbar disc herniation, susceptibility to}, 603932, Fibrochondrogenesis, 228520