Arthrogryposis
Gene: SMAD3EnsemblGeneIds (GRCh38): ENSG00000166949
EnsemblGeneIds (GRCh37): ENSG00000166949
OMIM: 603109, Gene2Phenotype
SMAD3 is in 13 panels
2 reviews
Eleanor Williams (Genomics England Curator)
Note one case with biallelic variant reported:
PMID: 32935439 - Baskin et al 2020 - first report of a LDS patient with biallelic SMAD3 variants (affecting splice site). Proband had classic Loeys-Dietz features, including dysmorphic facial features, significant scoliosis, and pectus excavatum, arachnodactyly, severe aortic root dilation, and diffuse arterial tortuosity. His parents are each heterozygous for the likely pathogenic variant and are more mildly affected.Created: 28 Jul 2021, 12:23 a.m. | Last Modified: 28 Jul 2021, 12:23 a.m.
Panel Version: 3.113
Alice Gardham (Genomics England)
recognised on G2PCreated: 5 Jan 2017, 11:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 3 613795
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Loeys-Dietz syndrome 3 613795
- OMIM
- 603109
- Clinvar variants
- Variants in SMAD3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Fetal anomalies
- Clefting
- COVID-19 research
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Cerebral vascular malformations
- Pneumothorax - familial
- Intellectual disability
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Alice Gardham (Genomics England)SMAD3 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Created
Alice Gardham (Genomics England)SMAD3 was created by agardham