Gene Symbol:
COL3A1
HGNC:2201
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q32.2
Filters:

Definitive classifications

autosomal dominant Ehlers-Danlos syndrome, vascular type
Submitted as: OMIM:130050
AD
04/14/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
Ehlers-Danlos syndrome, vascular type
AD
02/27/2019
Evaluated
10/18/2023
Submitted
autosomal dominant Ehlers-Danlos syndrome, vascular type
Submitted as: OMIM:130050
AD
09/01/2017
Evaluated
09/11/2023
Submitted

Strong classifications

autosomal dominant Ehlers-Danlos syndrome, vascular type
Submitted as: OMIM:130050
AD
10/08/2020
Evaluated
11/09/2020
Submitted
polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
Submitted as: OMIM:618343
AR
10/08/2020
Evaluated
11/09/2020
Submitted
autosomal dominant Ehlers-Danlos syndrome, vascular type
Submitted as: OMIM:130050
AD
03/04/2020
Evaluated
03/31/2021
Submitted
autosomal dominant Ehlers-Danlos syndrome, vascular type
Submitted as: OMIM:130050
AD
02/10/2023
Evaluated
11/30/2023
Submitted
polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
Submitted as: OMIM:618343
AR
10/19/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

Ehlers-Danlos syndrome, vascular type
Submitted as: Orphanet:286
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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