Gene Symbol:
SMAD4
HGNC:6770
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
18q21.2
Filters:

Definitive classifications

Myhre syndrome
Submitted as: OMIM:139210
AD
07/22/2015
Evaluated
09/11/2023
Submitted
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
AD
04/18/2023
Evaluated
10/18/2023
Submitted
juvenile polyposis syndrome
Submitted as: OMIM:174900
AD
11/29/2016
Evaluated
09/11/2023
Submitted
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Submitted as: OMIM:175050
AD
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

Myhre syndrome
Submitted as: OMIM:139210
AD
12/22/2022
Evaluated
11/30/2023
Submitted
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Submitted as: OMIM:175050
AD
10/08/2020
Evaluated
11/09/2020
Submitted
generalized juvenile polyposis/juvenile polyposis coli
Submitted as: OMIM:174900
AD
03/04/2020
Evaluated
03/31/2021
Submitted
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Submitted as: OMIM:175050
AD
01/07/2021
Evaluated
03/31/2021
Submitted
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Submitted as: OMIM:175050
AD
02/10/2021
Evaluated
11/30/2023
Submitted
juvenile polyposis syndrome
Submitted as: OMIM:174900
AD
05/15/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

hereditary hemorrhagic telangiectasia
Submitted as: Orphanet:774
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Myhre syndrome
Submitted as: Orphanet:2588
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
generalized juvenile polyposis/juvenile polyposis coli
Submitted as: Orphanet:329971
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Disputed Evidence classifications

pulmonary arterial hypertension
AD
11/21/2022
Evaluated
10/18/2023
Submitted

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