Gene Symbol:
SMAD6
HGNC:6772
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
15q22.31
Filters:

Strong classifications

craniosynostosis 7
Submitted as: OMIM:617439
AD
10/08/2020
Evaluated
11/09/2020
Submitted
radioulnar synostosis, nonsyndromic, susceptibility to
Submitted as: OMIM:179300
AD
12/20/2022
Evaluated
08/19/2023
Submitted

Moderate classifications

aortic valve disease 2
Submitted as: OMIM:614823
AD
10/08/2020
Evaluated
11/09/2020
Submitted
aortic valve disease 2
Submitted as: OMIM:614823
AD
12/20/2022
Evaluated
08/19/2023
Submitted
craniosynostosis 7
Submitted as: OMIM:617439
AD
12/20/2022
Evaluated
08/19/2023
Submitted

Supportive classifications

congenital radioulnar synostosis
Submitted as: Orphanet:3269
Unknown
09/14/2021
Evaluated
09/14/2021
Submitted
familial bicuspid aortic valve
Submitted as: Orphanet:402075
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

congenital radioulnar synostosis
Submitted as: OMIM:179300
AR
01/10/2020
Evaluated
09/28/2021
Submitted
aortic valve disease 2
Submitted as: OMIM:614823
Unknown
01/20/2023
Evaluated
11/30/2023
Submitted
craniosynostosis 7
Submitted as: OMIM:617439
Unknown
01/23/2023
Evaluated
11/30/2023
Submitted

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