Aortopathy_Connective Tissue Disorders
Gene: SMAD3EnsemblGeneIds (GRCh38): ENSG00000166949
EnsemblGeneIds (GRCh37): ENSG00000166949
OMIM: 603109, Gene2Phenotype
SMAD3 is in 16 panels
3 reviews
Paul De Fazio (Victorian Clinical Genetics Services)
"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
Variants in this GENE are reported as part of current diagnostic practice
Elena Savva (Victorian Clinical Genetics Services)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Loeys-Dietz syndrome 3, MIM# 613795
- OMIM
- 603109
- Clinvar variants
- Variants in SMAD3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Additional findings_Adult
- Clefting disorders
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Pneumothorax
- Craniosynostosis
- Incidentalome
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Arthrogryposis
- Aortopathy_Connective Tissue Disorders
- Spontaneous coronary artery dissection
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smad3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SMAD3 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SMAD3 was added gene: SMAD3 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SMAD3 was set to Unknown