Incidentalome
Gene: SMAD3

SMAD3 (SMAD family member 3)
EnsemblGeneIds (GRCh38): ENSG00000166949
EnsemblGeneIds (GRCh37): ENSG00000166949
OMIM: 603109, Gene2Phenotype
SMAD3 is in 16 panels

4 reviews

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

"Definitive" by ClinGen Aortopathy working group.
Created: 25 Jun 2020, 2:56 a.m. | Last Modified: 25 Jun 2020, 2:56 a.m.

Panel Version: 0.26

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Loeys-Dietz syndrome 3, MIM# 613795

Publications

30071989

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Jun 2020, 2:56 a.m.
Last Modified: 25 Jun 2020, 2:56 a.m.
Panel version: Imported from Aortopathy_Connective Tissue Disorders panel version 0.26

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Missense variants within the MH2 domain have been suggested to exert dominant negative mechanism by disprupting the formation of homo-oligomers (PMID: 30661052)

Loss-of-function proven for PTCs (PMID: 30661052)
Created: 18 Jun 2020, 5:45 a.m. | Last Modified: 18 Jun 2020, 5:45 a.m.

Panel Version: 0.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Loeys-Dietz syndrome 3, 613795

Publications

PMID: 30661052
30661052

Created: 18 Jun 2020, 5:45 a.m.
Last Modified: 18 Jun 2020, 5:45 a.m.
Panel version: Imported from Aortopathy_Connective Tissue Disorders panel version Imported from Childhood onset conditions_Untreatable panel version 0.2

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 3, MIM# 613795

Publications

Created: 20 Apr 2020, 4:23 a.m.
Last Modified: 20 Apr 2020, 4:23 a.m.
Panel version: Imported from Aortopathy_Connective Tissue Disorders panel version 0.13

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

SMAD3 variants are a well known cause of thoracic aortic aneurysms and dissections, along with aneurysms and rupture of other arteries. Patients can also have mild craniofacial features and skeletal and cutaneous anomalies. Affected individuals often present with early-onset osteoarthritis.
Created: 20 Apr 2020, 4:13 a.m. | Last Modified: 20 Apr 2020, 4:13 a.m.

Panel Version: 0.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 3 613795

Publications

Created: 20 Apr 2020, 4:13 a.m.
Last Modified: 20 Apr 2020, 4:13 a.m.
Panel version: 0.16

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Loeys-Dietz syndrome 3, MIM# 613795

Tags

cardiac

OMIM

603109

Clinvar variants

Variants in SMAD3

Penetrance

None

Publications

Panels with this gene