Gene Symbol:
COL2A1
HGNC:2200
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12q13.11
Filters:

Definitive classifications

Stickler syndrome type 1
AD
12/07/2017
Evaluated
10/15/2020
Submitted
Czech dysplasia, metatarsal type
Submitted as: OMIM:609162
AD
08/31/2018
Evaluated
03/02/2021
Submitted
spondylometaphyseal dysplasia
AD
06/07/2021
Evaluated
08/16/2021
Submitted
platyspondylic dysplasia, Torrance type
AD
02/01/2021
Evaluated
08/16/2021
Submitted
achondrogenesis type II
AD
10/05/2020
Evaluated
08/16/2021
Submitted
spondyloepiphyseal dysplasia congenita
AD
06/07/2021
Evaluated
08/16/2021
Submitted
spondyloepiphyseal dysplasia congenita
Submitted as: OMIM:183900
AD
07/22/2015
Evaluated
11/25/2020
Submitted
spondyloepimetaphyseal dysplasia, Strudwick type
Submitted as: OMIM:184250
AD
07/22/2015
Evaluated
11/25/2020
Submitted
spondyloperipheral dysplasia-short ulna syndrome
Submitted as: OMIM:271700
AD
07/22/2015
Evaluated
11/25/2020
Submitted
Stickler syndrome, type I, nonsyndromic ocular
Submitted as: OMIM:609508
AD
07/22/2015
Evaluated
11/25/2020
Submitted
platyspondylic dysplasia, Torrance type
Submitted as: OMIM:151210
AD
07/22/2015
Evaluated
11/25/2020
Submitted
achondrogenesis type II
Submitted as: OMIM:200610
AD
07/22/2015
Evaluated
11/25/2020
Submitted
Kniest dysplasia
Submitted as: OMIM:156550
AD
07/22/2015
Evaluated
11/25/2020
Submitted

Strong classifications

Stickler syndrome type 1
Submitted as: OMIM:108300
AD
01/16/2021
Evaluated
01/21/2021
Submitted
Legg-Calve-Perthes disease
Submitted as: OMIM:150600
AD
12/09/2021
Evaluated
02/03/2022
Submitted
Kniest dysplasia
Submitted as: OMIM:156550
AD
02/11/2021
Evaluated
02/03/2022
Submitted
Czech dysplasia, metatarsal type
Submitted as: OMIM:609162
AD
08/28/2020
Evaluated
02/03/2022
Submitted
mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Submitted as: OMIM:604864
AD
08/28/2020
Evaluated
02/03/2022
Submitted
Stickler syndrome type 1
Submitted as: OMIM:108300
AD
02/19/2020
Evaluated
03/31/2021
Submitted
achondrogenesis type II
Submitted as: OMIM:200610
AD
08/16/2018
Evaluated
03/02/2021
Submitted

Moderate classifications

spondyloepiphyseal dysplasia, Stanescu type
AD
12/01/2016
Evaluated
08/16/2021
Submitted

Supportive classifications

Kniest dysplasia
Submitted as: Orphanet:485
AD
09/14/2021
Evaluated
09/14/2021
Submitted
spondyloepiphyseal dysplasia congenita
Submitted as: Orphanet:94068
AD
09/14/2021
Evaluated
09/14/2021
Submitted
spondyloepiphyseal dysplasia, Stanescu type
Submitted as: Orphanet:459051
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant rhegmatogenous retinal detachment
Submitted as: Orphanet:209867
AD
09/14/2021
Evaluated
09/14/2021
Submitted
multiple epiphyseal dysplasia, Beighton type
Submitted as: Orphanet:166011
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Czech dysplasia, metatarsal type
Submitted as: Orphanet:137678
AD
09/14/2021
Evaluated
09/14/2021
Submitted
spondyloepimetaphyseal dysplasia, Strudwick type
Submitted as: Orphanet:93346
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Legg-Calve-Perthes disease
Submitted as: Orphanet:2380
AD
09/14/2021
Evaluated
09/14/2021
Submitted
spondylometaphyseal dysplasia, Schmidt type
Submitted as: Orphanet:93316
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hypochondrogenesis
Submitted as: Orphanet:93297
AD
09/14/2021
Evaluated
09/14/2021
Submitted
achondrogenesis type II
Submitted as: Orphanet:93296
AD
09/14/2021
Evaluated
09/14/2021
Submitted
mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Submitted as: Orphanet:93279
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Stickler syndrome type 1
Submitted as: Orphanet:90653
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial avascular necrosis of femoral head
Submitted as: Orphanet:86820
AD
09/14/2021
Evaluated
09/14/2021
Submitted
dysspondyloenchondromatosis
Submitted as: Orphanet:85198
AD
09/14/2021
Evaluated
09/14/2021
Submitted
platyspondylic dysplasia, Torrance type
Submitted as: Orphanet:85166
AD
09/14/2021
Evaluated
09/14/2021
Submitted
spondyloperipheral dysplasia-short ulna syndrome
Submitted as: Orphanet:1856
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

otospondylomegaepiphyseal dysplasia
AR
08/31/2018
Evaluated
09/28/2021
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.