COL1A2

Gene Symbol:
COL1A2
HGNC:2198
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
7q21.3
Filters:

Definitive classifications

COL1A2-related Ehlers-Danlos syndrome
AD
11/02/2022
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

COL1A2 was first reported in relation to autosomal dominant COL1A2-related Ehle... Read more

COL1A2-related osteogenesis imperfecta
AD
12/05/2022
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

COL1A2 was first reported in relation to autosomal dominant COL1A2-related oste... Read more

Ehlers-Danlos syndrome, arthrochalasia type
AD
09/28/2023
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

COL1A2 was first reported in relation to autosomal dominant Ehlers-Danlos Syndrome Arthr... Read more

osteogenesis imperfecta type 3
AD
09/28/2023
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

COL1A2 has been repeatedly described in association with autosomal dominant Osteogenesis... Read more

Ehlers-Danlos syndrome, cardiac valvular type
AR
09/28/2023
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

COL1A2 was first reported in relation to autosomal recessive Ehlers-Danlos syndrome, car... Read more

osteogenesis imperfecta type 1
AD
09/28/2023
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

COL1A2 was first reported in relation to autosomal dominant Osteogenesis Imperfecta (OI)... Read more

osteogenesis imperfecta type 4
AD
09/28/2023
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

COL1A2 was first reported in relation to autosomal dominant Osteogenesis Imperfecta (OI... Read more

osteogenesis imperfecta type 2
AD
09/28/2023
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

COL1A2 has been repeatedly described in association with autosomal dominant Osteogenesis... Read more

osteogenesis imperfecta type 2
Submitted as: OMIM:166210
AD
01/15/2025
Evaluated
07/02/2025
Submitted
Ehlers-Danlos syndrome, arthrochalasia type, 2
AD
07/21/2021
Evaluated
10/27/2022
Submitted
osteogenesis imperfecta
AD
09/16/2019
Evaluated
07/02/2025
Submitted
Ehlers-Danlos syndrome, cardiac valvular type
Submitted as: OMIM:225320
AR
07/05/2018
Evaluated
07/02/2025
Submitted

Strong classifications

Ehlers-Danlos syndrome, arthrochalasia type, 2
Submitted as: OMIM:617821
AD
02/11/2022
Evaluated
11/30/2023
Submitted
Ehlers-Danlos syndrome, arthrochalasia type, 2
Submitted as: OMIM:617821
AD
03/04/2020
Evaluated
03/31/2021
Submitted
Ehlers-Danlos syndrome, cardiac valvular type
Submitted as: OMIM:225320
AR
03/04/2020
Evaluated
03/31/2021
Submitted
Ehlers-Danlos syndrome, arthrochalasia type
Submitted as: OMIM:130060
AR
03/28/2019
Evaluated
11/30/2023
Submitted
osteogenesis imperfecta type 3
Submitted as: OMIM:259420
AD
06/14/2023
Evaluated
11/30/2023
Submitted

Moderate classifications

combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Submitted as: OMIM:619120
AD
02/02/2023
Evaluated
08/19/2023
Submitted
combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
AD
09/28/2023
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

COL1A2 was first reported in relation to autosomal dominant combined Osteogenesis Imperf... Read more

Supportive classifications

high bone mass osteogenesis imperfecta
Submitted as: Orphanet:314029
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Ehlers-Danlos/osteogenesis imperfecta syndrome
Submitted as: Orphanet:230857
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Ehlers-Danlos syndrome, cardiac valvular type
Submitted as: Orphanet:230851
AR
09/14/2021
Evaluated
09/14/2021
Submitted
osteogenesis imperfecta type 4
Submitted as: Orphanet:216820
AD
09/14/2021
Evaluated
09/14/2021
Submitted
osteogenesis imperfecta type 3
Submitted as: Orphanet:216812
AD
09/14/2021
Evaluated
09/14/2021
Submitted
osteogenesis imperfecta type 2
Submitted as: Orphanet:216804
AD
09/14/2021
Evaluated
09/14/2021
Submitted
osteogenesis imperfecta type 1
Submitted as: Orphanet:216796
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Ehlers-Danlos syndrome, arthrochalasia type
Submitted as: Orphanet:1899
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Disputed Evidence classifications

congenital heart disease
Unknown
09/09/2024
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

COL1A2 was first reported in relation to congenital heart disease in 2017 (Jin et al., P... Read more

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