COL11A2

collagen type XI alpha 2 chain
OMIM: 120290
PanelMode of inheritanceDetails
6 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stickler syndrome, type III, STICKLER SYNDROME, NONOCULAR TYPE, OSMED, STL3, Non-ocular 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
WEISSENBACHER-ZWEYMUELLER SYNDROME 184840, AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150, DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868, STICKLER SYNDROME TYPE 3 184840, DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
WEISSENBACHER-ZWEYMUELLER SYNDROME, DEAFNESS AUTOSOMAL RECESSIVE TYPE 53, AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, DEAFNESS AUTOSOMAL DOMINANT TYPE 13, STICKLER SYNDROME TYPE 3
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
hearing loss, #184840:Stickler syndrome, type III, #215150:Otospondylomegaepiphyseal dysplasia, #277610:Weissenbacher-Zweymuller syndrome, #601868:Deafness, autosomal dominant 13, #609706:Deafness, autosomal recessive 53, #614524: Fibrochondrogenesis 2, Nonsyndromic Hearing Loss, Dominant
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type III 184840, Otospondylomegaepiphyseal dysplasia 215150, Fibrochondrogenesis 2 614524?, Fibrochondrogenesis 2 614524, Weissenbacher-Zweymuller syndrome 277610
R-numbers: R45
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stickler Syndrome, Dominant, Stickler syndrome, type III, 184840, Otospondylomegaepiphyseal dysplasia, 215150, Weissenbacher-Zweymuller syndrome, 277610, Deafness, autosomal dominant 13, 601868, Deafness, autosomal recessive 53, 609706, Fibrochondrogenesis 2, 614524