Gene Symbol:
ACAN
HGNC:319
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
15q26.1
Filters:

Definitive classifications

spondyloepiphyseal dysplasia, Kimberley type
Submitted as: OMIM:608361
AD
07/22/2015
Evaluated
09/11/2023
Submitted
spondyloepimetaphyseal dysplasia, aggrecan type
Submitted as: OMIM:612813
AR
07/22/2015
Evaluated
09/11/2023
Submitted
osteochondritis dissecans
Submitted as: OMIM:165800
AD
02/05/2021
Evaluated
10/27/2022
Submitted
short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
Submitted as: OMIM:165800
AD
09/02/2022
Evaluated
08/19/2023
Submitted

Strong classifications

spondyloepimetaphyseal dysplasia, aggrecan type
Submitted as: OMIM:612813
AR
04/15/2022
Evaluated
11/30/2023
Submitted
spondyloepiphyseal dysplasia, Kimberley type
Submitted as: OMIM:608361
AD
04/15/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

spondyloepiphyseal dysplasia, Kimberley type
Submitted as: Orphanet:93283
AD
09/14/2021
Evaluated
09/14/2021
Submitted
spondyloepimetaphyseal dysplasia, aggrecan type
Submitted as: Orphanet:171866
AR
09/14/2021
Evaluated
09/14/2021
Submitted
osteochondritis dissecans
Submitted as: Orphanet:251262
AD
09/14/2021
Evaluated
09/14/2021
Submitted
short stature-advanced bone age-early-onset osteoarthritis syndrome
Submitted as: Orphanet:435804
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

spondyloepiphyseal dysplasia, Kimberley type
Submitted as: OMIM:608361
AD
09/02/2022
Evaluated
08/19/2023
Submitted
spondyloepimetaphyseal dysplasia, aggrecan type
Submitted as: OMIM:612813
AR
09/02/2022
Evaluated
08/19/2023
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.