This Panel is marked as Internal
ClinGen Gene Validity Curations
Gene: SMAD3
SMAD3 (SMAD family member 3)
EnsemblGeneIds (GRCh38): ENSG00000166949
EnsemblGeneIds (GRCh37): ENSG00000166949
OMIM: 603109, Gene2Phenotype
SMAD3 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000166949
EnsemblGeneIds (GRCh37): ENSG00000166949
OMIM: 603109, Gene2Phenotype
SMAD3 is in 13 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 11:51 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- ClinGen
- Phenotypes
-
- Aneurysm-osteoarthritis syndrome
- OrphaNet ORPHA284984
- OMIM 613795
- OMIM
- 603109
- Clinvar variants
- Variants in SMAD3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Arthrogryposis
- DDG2P
- Cerebral vascular malformations
- Thoracic aortic aneurysm or dissection
- COVID-19 research
- Skeletal dysplasia
- Pneumothorax - familial
- Fetal anomalies
- Ehlers Danlos syndrome with a likely monogenic cause
- Thoracic aortic aneurysm or dissection (GMS)
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Clefting
History Filter Activity
22 Jun 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SMAD3 was added to ClinGen Gene Validity Curationspanel. Source: Expert Review Green
20 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SMAD3 was created by ellenmcdonagh
20 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SMAD3 was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen