COL11A1

collagen type XI alpha 1 chain
OMIM: 120280
PanelMode of inheritanceDetails
8 panels
R-numbers: R31
Signed-off version 4.14
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Marshall Syndrome, OMIM:154780, Stickler syndrome, type II, OMIM:604841
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Marshall Syndrome, OMIM:154780, Stickler syndrome, type II, OMIM:604841
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 II 604841, FIBROCHONDROGENESIS 228520
R-numbers: R21, R412
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
FIBROCHONDROGENESIS, STICKLER SYNDROME, TYPE II
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Deafness, autosomal dominant 37, OMIM:618533, Stickler syndrome, type II, OMIM:604841
R-numbers: R32
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Stickler syndrome, type II, OMIM:604841, Marshall syndrome, OMIM:154780
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 II, OMIM:604841, Marshall syndrome, OMIM:154780, Fibrochondrogenesis 1, OMIM:228520
R-numbers: R45
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type II, OMIM:604841, Marshall syndrome, OMIM:154780