Gene Symbol:
FBN1
HGNC:3603
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
15q21.1
Filters:

Definitive classifications

Shprintzen-Goldberg syndrome
Submitted as: OMIM:182212
AD
07/22/2015
Evaluated
09/11/2023
Submitted
MASS syndrome
Submitted as: OMIM:604308
AD
07/22/2015
Evaluated
11/25/2020
Submitted
Marfan syndrome
Submitted as: OMIM:154700
AD
02/15/2017
Evaluated
03/02/2021
Submitted
Marfan syndrome
Submitted as: OMIM:154700
AR
06/30/2021
Evaluated
09/11/2023
Submitted
AD
03/04/2019
Evaluated
10/18/2023
Submitted
familial thoracic aortic aneurysm and aortic dissection
AD
01/23/2017
Evaluated
10/18/2023
Submitted
Marfan syndrome
Submitted as: OMIM:154700
AD
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

Weill-Marchesani syndrome 2, dominant
Submitted as: OMIM:608328
AD
04/09/2020
Evaluated
11/30/2023
Submitted
stiff skin syndrome
Submitted as: OMIM:184900
AD
04/19/2021
Evaluated
11/30/2023
Submitted
Marfan syndrome
Submitted as: OMIM:154700
AD
03/24/2023
Evaluated
11/30/2023
Submitted
Marfan syndrome
Submitted as: OMIM:154700
AD
10/08/2020
Evaluated
11/09/2020
Submitted
Marfan syndrome
Submitted as: OMIM:154700
AD
03/04/2020
Evaluated
03/31/2021
Submitted
progeroid and marfanoid aspect-lipodystrophy syndrome
Submitted as: OMIM:616914
AD
02/09/2022
Evaluated
11/30/2023
Submitted
Acromicric dysplasia
Submitted as: OMIM:102370
AD
12/17/2021
Evaluated
08/19/2023
Submitted

Moderate classifications

progeroid and marfanoid aspect-lipodystrophy syndrome
Submitted as: OMIM:616914
AD
01/29/2020
Evaluated
03/02/2021
Submitted

Supportive classifications

progeroid and marfanoid aspect-lipodystrophy syndrome
Submitted as: Orphanet:300382
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial thoracic aortic aneurysm and aortic dissection
Submitted as: Orphanet:91387
AD
09/14/2021
Evaluated
09/14/2021
Submitted
neonatal Marfan syndrome
Submitted as: Orphanet:284979
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Marfan syndrome
Submitted as: Orphanet:284963
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Weill-Marchesani syndrome
Submitted as: Orphanet:3449
AD
09/14/2021
Evaluated
09/14/2021
Submitted
geleophysic dysplasia
Submitted as: Orphanet:2623
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Acromicric dysplasia
Submitted as: Orphanet:969
AD
09/14/2021
Evaluated
09/14/2021
Submitted
isolated ectopia lentis
Submitted as: Orphanet:1885
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

stiff skin syndrome
Submitted as: OMIM:184900
AD
12/17/2021
Evaluated
08/19/2023
Submitted
Weill-Marchesani syndrome 2, dominant
Submitted as: OMIM:608328
AD
07/22/2015
Evaluated
09/11/2023
Submitted
ectopia lentis 1, isolated, autosomal dominant
Submitted as: OMIM:129600
AD
08/27/2017
Evaluated
09/11/2023
Submitted
Shprintzen-Goldberg syndrome
Submitted as: OMIM:182212
Unknown
05/18/2020
Evaluated
11/30/2023
Submitted

Disputed Evidence classifications

Shprintzen-Goldberg syndrome
AD
12/01/2021
Evaluated
10/18/2023
Submitted

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