Gene Symbol:
TGFBR1
HGNC:11772
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
9q22.33
Filters:

Definitive classifications

familial thoracic aortic aneurysm and aortic dissection
AD
10/12/2016
Evaluated
04/21/2024
Submitted
Loeys-Dietz syndrome 1
Submitted as: OMIM:609192
AD
07/22/2015
Evaluated
09/11/2023
Submitted
multiple self-healing squamous epithelioma
AD
12/20/2019
Evaluated
04/21/2024
Submitted
Loeys-Dietz syndrome
AD
03/27/2019
Evaluated
04/21/2024
Submitted

Strong classifications

Loeys-Dietz syndrome 1
Submitted as: OMIM:609192
AD
10/08/2020
Evaluated
11/09/2020
Submitted
Loeys-Dietz syndrome 1
Submitted as: OMIM:609192
AD
03/04/2020
Evaluated
03/31/2021
Submitted
Loeys-Dietz syndrome 1
Submitted as: OMIM:609192
AD
02/19/2018
Evaluated
09/28/2021
Submitted
Loeys-Dietz syndrome 1
Submitted as: OMIM:609192
AD
04/20/2022
Evaluated
11/30/2023
Submitted
multiple self-healing squamous epithelioma
Submitted as: OMIM:132800
AD
08/20/2021
Evaluated
11/30/2023
Submitted

Moderate classifications

multiple self-healing squamous epithelioma
Submitted as: OMIM:132800
AD
03/16/2022
Evaluated
08/19/2023
Submitted

Supportive classifications

Loeys-Dietz syndrome
Submitted as: Orphanet:60030
AD
09/14/2021
Evaluated
09/14/2021
Submitted
multiple self-healing squamous epithelioma
Submitted as: Orphanet:65748
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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