This Panel is marked as Retired
Multiple Tumours
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)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:47 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Juvenile Polyposis Syndrome
- Colorectal cancer, hamartoma
- Familial colon cancer
- Multiple bowel polyps
- OMIM
- 600993
- Clinvar variants
- Variants in SMAD4
- Penetrance
- Complete
- Panels with this gene
-
- Clefting
- Vascular skin disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Intellectual disability
- Bleeding and platelet disorders
- Pulmonary arterial hypertension
- Fetal anomalies
- Cerebral vascular malformations
- Ehlers Danlos syndrome with a likely monogenic cause
- Structural eye disease
- Childhood solid tumours
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Skeletal dysplasia
- GI tract tumours
- Adult solid tumours cancer susceptibility
- Thoracic aortic aneurysm or dissection
- DDG2P
- Inherited bleeding disorders
- Inherited polyposis and early onset colorectal cancer - germline testing
- Arthrogryposis
- Hereditary haemorrhagic telangiectasia
- Childhood solid tumours cancer susceptibility
History Filter Activity
9 Mar 2016, Gel status: 4
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)SMAD4 was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SMAD4 was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SMAD4 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)