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

Definitive classifications

Loeys-Dietz syndrome 1
Submitted as: OMIM:609192
AD
07/22/2015
Evaluated
11/25/2020
Submitted
familial thoracic aortic aneurysm and aortic dissection
AD
10/12/2016
Evaluated
08/16/2021
Submitted
multiple self-healing squamous epithelioma
AD
12/20/2019
Evaluated
08/16/2021
Submitted
Loeys-Dietz syndrome
AD
03/27/2019
Evaluated
08/16/2021
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

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

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.