Gene Symbol:
FBN1
HGNC:3603
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Filters:

Definitive classifications

familial thoracic aortic aneurysm and aortic dissection
AD
01/23/2017
Evaluated
08/16/2021
Submitted
Shprintzen-Goldberg syndrome
Submitted as: OMIM:182212
AD
07/22/2015
Evaluated
11/25/2020
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
AD
07/22/2015
Evaluated
11/25/2020
Submitted
AD
03/04/2019
Evaluated
08/16/2021
Submitted

Strong classifications

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

Moderate classifications

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

Supportive classifications

Weill-Marchesani syndrome
Submitted as: Orphanet:3449
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
familial thoracic aortic aneurysm and aortic dissection
Submitted as: Orphanet:91387
AD
09/14/2021
Evaluated
09/14/2021
Submitted
progeroid and marfanoid aspect-lipodystrophy syndrome
Submitted as: Orphanet:300382
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

glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome
Submitted as: OMIM:608328
AD
07/22/2015
Evaluated
11/25/2020
Submitted
ectopia lentis 1, isolated, autosomal dominant
Submitted as: OMIM:129600
AD
07/22/2015
Evaluated
11/25/2020
Submitted
Shprintzen-Goldberg syndrome
Submitted as: OMIM:182212
Unknown
09/28/2020
Evaluated
12/04/2020
Submitted

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