Gene Symbol:
COL11A1
HGNC:2186
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1p21.1
Filters:

Strong classifications

Stickler syndrome type 2
Submitted as: OMIM:604841
AD
10/09/2020
Evaluated
11/09/2020
Submitted
Stickler syndrome type 2
Submitted as: OMIM:604841
AD
02/19/2020
Evaluated
03/31/2021
Submitted
Marshall syndrome
Submitted as: OMIM:154780
AD
02/19/2020
Evaluated
03/31/2021
Submitted
Stickler syndrome type 2
Submitted as: OMIM:604841
AR
02/19/2020
Evaluated
03/31/2021
Submitted
Marshall syndrome
Submitted as: OMIM:154780
AR
02/19/2020
Evaluated
03/31/2021
Submitted
hearing loss, autosomal dominant 37
Submitted as: OMIM:618533
AD
09/07/2021
Evaluated
11/30/2023
Submitted
fibrochondrogenesis 1
Submitted as: OMIM:228520
AR
04/10/2023
Evaluated
11/30/2023
Submitted

Moderate classifications

hearing loss, autosomal dominant 37
Submitted as: OMIM:618533
AD
04/26/2022
Evaluated
08/19/2023
Submitted

Supportive classifications

Marshall syndrome
Submitted as: Orphanet:560
AD
09/14/2021
Evaluated
09/14/2021
Submitted
fibrochondrogenesis
Submitted as: Orphanet:2021
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Stickler syndrome type 2
Submitted as: Orphanet:90654
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive Stickler syndrome
Submitted as: Orphanet:250984
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Submitted as: Orphanet:440354
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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