Gene Symbol:
TGFB3
HGNC:11769
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
14q24.3
Filters:

Ambry Genetics classifications

arrhythmogenic right ventricular dysplasia 1
Submitted as: OMIM:107970
AD
08/05/2016
Evaluated
09/28/2021
Submitted
Rienhoff syndrome
Submitted as: OMIM:615582
AD
01/19/2020
Evaluated
09/28/2021
Submitted
Loeys-Dietz syndrome
AR
02/21/2020
Evaluated
09/28/2021
Submitted

ClinGen classifications

familial thoracic aortic aneurysm and aortic dissection
AD
12/22/2016
Evaluated
04/21/2024
Submitted
arrhythmogenic right ventricular cardiomyopathy
AD
08/16/2019
Evaluated
04/21/2024
Submitted

Genomics England PanelApp classifications

Rienhoff syndrome
Submitted as: OMIM:615582
AD
03/04/2020
Evaluated
03/31/2021
Submitted

Illumina classifications

AD
08/31/2020
Evaluated
10/27/2022
Submitted

Invitae classifications

Rienhoff syndrome
Submitted as: OMIM:615582
AD
08/28/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

familial thoracic aortic aneurysm and aortic dissection
Submitted as: Orphanet:91387
AD
09/14/2021
Evaluated
09/14/2021
Submitted

PanelApp Australia classifications

Rienhoff syndrome
Submitted as: OMIM:615582
AD
10/08/2020
Evaluated
11/09/2020
Submitted

G2P classifications

Rienhoff syndrome
Submitted as: OMIM:615582
AD
07/22/2015
Evaluated
09/11/2023
Submitted

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