COL2A1

collagen type II alpha 1 chain
OMIM: 120140
PanelMode of inheritanceDetails
7 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Confirmed DD gene for Stickler syndrome type I non-syndromic ocular, Stickler syndrome
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
STICKLER SYNDROME, TYPE I (STL1), 108300, Orofacial Clefting with skeletal features, Stickler Syndrome, Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss), Stickler sydrome, type I, non syndromic ocular, STICKLER SYNDROME, VITREOUS TYPE 1, STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE, ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM, STICKLER SYNDROME, TYPE I, STL1, Cleft palate
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACHONDROGENESIS TYPE 2 200610, PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE 151210, SPONDYLOPERIPHERAL DYSPLASIA 271700, PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805, SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE 184250, SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 183900, RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT 609508, KNIEST DYSPLASIA 156550, STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE, SPONDYLOPERIPHERAL DYSPLASIA, STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR, PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE, ACHONDROGENESIS TYPE 2, RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT, SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA, KNIEST DYSPLASIA
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Platyspondylic skeletal dysplasia, Torrance type 151210, Achondrogenesis, type II or hypochondrogenesis 200610, Spondyloperipheral dysplasia 271700
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Epiphyseal dysplasia, multiple, with myopia and deafness 132450, Spondyloepiphyseal dysplasia, Stanescu type 616583, Stickler sydrome, type I, nonsyndromic ocular 609508, Achondrogenesis, type II or hypochondrogenesis 200610, Kniest dysplasia 156550, Legg-Calve-Perthes disease 150600, Otospondylomegaepiphyseal dysplasia 215150, Stickler syndrome, type I 108300, SMED Strudwick type 184250, Spondyloperipheral dysplasia 271700, Platyspondylic skeletal dysplasia, Torrance type 151210, Czech dysplasia 609162, SED congenita 183900, Osteoarthritis with mild chondrodysplasia 604864, Avascular necrosis of the femoral head 608805
R-numbers: R45
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stickler syndrome, type I, 108300, Kniest dysplasia, 156550, Achondrogenesis, type II or hypochondrogenesis, 200610, SED congenita, 183900, SMED Strudwick type, 184250, Epiphyseal dysplasia, multiple, with myopia and deafness, 132450