Gene Symbol:
COL1A1
HGNC:2197
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
17q21.33
Filters:

Definitive classifications

Ehlers-Danlos syndrome, arthrochalasia type
Submitted as: OMIM:130060
AD
09/01/2017
Evaluated
09/11/2023
Submitted
Caffey disease
Submitted as: OMIM:114000
AD
07/22/2015
Evaluated
09/11/2023
Submitted
osteogenesis imperfecta type 4
AD
09/28/2023
Evaluated
04/21/2024
Submitted
combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
AD
09/28/2023
Evaluated
04/21/2024
Submitted
osteogenesis imperfecta type 3
AD
06/24/2021
Evaluated
04/21/2024
Submitted
osteogenesis imperfecta type 1
AD
03/16/2021
Evaluated
04/21/2024
Submitted
osteogenesis imperfecta type 2
AD
03/22/2021
Evaluated
04/21/2024
Submitted
osteogenesis imperfecta type 3
Submitted as: OMIM:259420
AD
09/01/2017
Evaluated
09/11/2023
Submitted
Ehlers-Danlos syndrome, arthrochalasia type
AD
09/28/2023
Evaluated
04/21/2024
Submitted
osteogenesis imperfecta type 1
Submitted as: OMIM:166200
AD
07/22/2015
Evaluated
09/11/2023
Submitted
osteogenesis imperfecta type 2
Submitted as: OMIM:166210
AD
09/01/2017
Evaluated
09/11/2023
Submitted

Strong classifications

Ehlers-Danlos syndrome, arthrochalasia type
Submitted as: OMIM:130060
AD
08/20/2021
Evaluated
11/30/2023
Submitted
Ehlers-Danlos syndrome, arthrochalasia type
Submitted as: OMIM:130060
AD
10/08/2020
Evaluated
11/09/2020
Submitted
Ehlers-Danlos syndrome, arthrochalasia type
Submitted as: OMIM:130060
AD
03/04/2020
Evaluated
03/31/2021
Submitted
Caffey disease
Submitted as: OMIM:114000
AD
04/19/2021
Evaluated
11/30/2023
Submitted
osteogenesis imperfecta type 3
Submitted as: OMIM:259420
AD
06/08/2023
Evaluated
11/30/2023
Submitted

Moderate classifications

combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Submitted as: OMIM:619115
AD
02/02/2023
Evaluated
08/19/2023
Submitted
Caffey disease
Submitted as: OMIM:114000
AD
03/03/2023
Evaluated
08/19/2023
Submitted
Ehlers-Danlos syndrome, classic type, 1
AD
09/28/2023
Evaluated
04/21/2024
Submitted

Supportive classifications

Caffey disease
Submitted as: Orphanet:1310
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
Ehlers-Danlos syndrome, classic type
Submitted as: Orphanet:287
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
Ehlers-Danlos syndrome, arthrochalasia type
Submitted as: Orphanet:1899
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/osteogenesis imperfecta syndrome
Submitted as: Orphanet:230857
AD
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
high bone mass osteogenesis imperfecta
Submitted as: Orphanet:314029
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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