This Panel is marked as Internal
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
Gene: SMAD4
SMAD4 (SMAD family member 4)
EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 23 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, 1:06 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- ClinGen
- Phenotypes
-
- Familial thoracic aortic aneurysm and aortic dissection
- OMIM
- 600993
- Clinvar variants
- Variants in SMAD4
- Penetrance
- Complete
- Panels with this gene
-
- Vascular skin disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Pulmonary arterial hypertension
- Bleeding and platelet disorders
- Clefting
- Structural eye disease
- Skeletal dysplasia
- Cerebral vascular malformations
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Childhood solid tumours
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
- Inherited polyposis and early onset colorectal cancer - germline testing
- Hereditary haemorrhagic telangiectasia
- Childhood solid tumours cancer susceptibility
History Filter Activity
22 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SMAD4 was created by ellenmcdonagh
22 Jun 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SMAD4 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Sources: ClinGen,Expert Review Red