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
platyspondylic dysplasia, Torrance type
AD
02/01/2021
Evaluated
10/18/2023
Submitted
spondylometaphyseal dysplasia
AD
06/07/2021
Evaluated
10/18/2023
Submitted
spondyloepiphyseal dysplasia congenita
Submitted as: OMIM:183900
AR
01/12/2021
Evaluated
09/11/2023
Submitted
Stickler syndrome type 1
AD
09/28/2023
Evaluated
10/18/2023
Submitted
achondrogenesis type II
AD
10/05/2020
Evaluated
10/18/2023
Submitted
spondyloepiphyseal dysplasia congenita
AD
06/07/2021
Evaluated
10/18/2023
Submitted
Czech dysplasia, metatarsal type
Submitted as: OMIM:609162
AD
08/31/2018
Evaluated
03/02/2021
Submitted
spondyloepiphyseal dysplasia congenita
Submitted as: OMIM:183900
AD
07/22/2015
Evaluated
09/11/2023
Submitted
spondyloepimetaphyseal dysplasia, Strudwick type
Submitted as: OMIM:184250
AD
07/22/2015
Evaluated
09/11/2023
Submitted
spondyloperipheral dysplasia
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
09/11/2023
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
09/11/2023
Submitted
Kniest dysplasia
Submitted as: OMIM:156550
AD
07/22/2015
Evaluated
09/11/2023
Submitted
spondyloperipheral dysplasia
AD
09/28/2023
Evaluated
10/18/2023
Submitted

Strong classifications

Legg-Calve-Perthes disease
Submitted as: OMIM:150600
AD
04/19/2021
Evaluated
11/30/2023
Submitted
mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Submitted as: OMIM:604864
AD
04/19/2021
Evaluated
11/30/2023
Submitted
Stickler syndrome type 1
Submitted as: OMIM:108300
AD
01/16/2021
Evaluated
01/21/2021
Submitted
spondyloepiphyseal dysplasia congenita
Submitted as: OMIM:183900
AD
09/12/2022
Evaluated
11/30/2023
Submitted
achondrogenesis type II
Submitted as: OMIM:200610
AD
11/17/2022
Evaluated
11/30/2023
Submitted
Kniest dysplasia
Submitted as: OMIM:156550
AD
09/12/2022
Evaluated
11/30/2023
Submitted
otospondylomegaepiphyseal dysplasia, autosomal recessive
Submitted as: OMIM:215150
AR
03/06/2020
Evaluated
11/30/2023
Submitted
Stickler syndrome, type I, nonsyndromic ocular
Submitted as: OMIM:609508
AD
05/01/2023
Evaluated
11/30/2023
Submitted
avascular necrosis of femoral head, primary, 1
Submitted as: OMIM:608805
AD
06/08/2021
Evaluated
11/30/2023
Submitted
achondrogenesis type II
Submitted as: OMIM:200610
AD
08/16/2018
Evaluated
03/02/2021
Submitted
Stickler syndrome type 1
Submitted as: OMIM:108300
AD
02/19/2020
Evaluated
03/31/2021
Submitted
Czech dysplasia, metatarsal type
Submitted as: OMIM:609162
AD
04/19/2021
Evaluated
11/30/2023
Submitted

Moderate classifications

Czech dysplasia, metatarsal type
AD
09/28/2023
Evaluated
10/18/2023
Submitted
spondyloepiphyseal dysplasia, Stanescu type
AD
12/01/2016
Evaluated
10/18/2023
Submitted

Supportive classifications

multiple epiphyseal dysplasia, Beighton type
Submitted as: Orphanet:166011
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
spondyloperipheral dysplasia
Submitted as: Orphanet:1856
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
Czech dysplasia, metatarsal type
Submitted as: Orphanet:137678
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
spondyloepimetaphyseal dysplasia, Strudwick type
Submitted as: Orphanet:93346
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
spondyloepiphyseal dysplasia, Stanescu type
Submitted as: Orphanet:459051
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
Legg-Calve-Perthes disease
Submitted as: Orphanet:2380
AD
09/14/2021
Evaluated
09/14/2021
Submitted
dysspondyloenchondromatosis
Submitted as: Orphanet:85198
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Kniest dysplasia
Submitted as: Orphanet:485
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

Limited classifications

otospondylomegaepiphyseal dysplasia
AR
08/31/2018
Evaluated
09/28/2021
Submitted
otospondylomegaepiphyseal dysplasia, autosomal recessive
Submitted as: OMIM:215150
AD
03/06/2020
Evaluated
11/30/2023
Submitted
multiple epiphyseal dysplasia, Beighton type
Submitted as: OMIM:132450
AD
09/16/2022
Evaluated
11/30/2023
Submitted
vitreoretinopathy with phalangeal epiphyseal dysplasia
Submitted as: OMIM:619248
Unknown
04/06/2021
Evaluated
11/30/2023
Submitted

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