Gene Symbol:
TGFBR2
HGNC:11773
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
3p24.1
Filters:

Definitive classifications

Rienhoff syndrome
Submitted as: OMIM:615582
AD
07/22/2015
Evaluated
11/25/2020
Submitted
Loeys-Dietz syndrome 2
Submitted as: OMIM:610168
AD
07/22/2015
Evaluated
07/01/2021
Submitted
familial thoracic aortic aneurysm and aortic dissection
AD
02/15/2016
Evaluated
01/16/2023
Submitted
Loeys-Dietz syndrome 2
AD
11/25/2020
Evaluated
01/16/2023
Submitted

Strong classifications

Loeys-Dietz syndrome 2
Submitted as: OMIM:610168
AD
10/08/2020
Evaluated
11/09/2020
Submitted
Loeys-Dietz syndrome 2
Submitted as: OMIM:610168
AD
03/04/2020
Evaluated
03/31/2021
Submitted

Supportive classifications

Loeys-Dietz syndrome
Submitted as: Orphanet:60030
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

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