Spontaneous coronary artery dissection
Gene: SMAD3EnsemblGeneIds (GRCh38): ENSG00000166949
EnsemblGeneIds (GRCh37): ENSG00000166949
OMIM: 603109, Gene2Phenotype
SMAD3 is in 16 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 32897753
1x individual with SCAD, canonical splice variant
PMID: 29650765
1x individual with SCAD, missense D258H absent in gnomad v4
PMID: 33125268
2x individuals with SCAD, 1x start loss and 1x fs
PMID: 33190788
1x individual with another variant in MYH11
Sources: LiteratureCreated: 27 Jun 2024, 11:01 p.m. | Last Modified: 7 Aug 2024, 6:08 a.m.
Panel Version: 0.39
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 3, MIM# 613795
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Loeys-Dietz syndrome 3, MIM# 613795
- OMIM
- 603109
- Clinvar variants
- Variants in SMAD3
- Penetrance
- None
- Publications
- Panels with this gene
-
- 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
- Additional findings_Adult
- Congenital Heart Defect
- Arthrogryposis
- Aortopathy_Connective Tissue Disorders
- Spontaneous coronary artery dissection
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: smad3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: smad3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: SMAD3 was added gene: SMAD3 was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD3 were set to 21217753; 30661052; 30071989 Phenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome 3, MIM# 613795 Review for gene: SMAD3 was set to GREEN gene: SMAD3 was marked as current diagnostic