This Panel is marked as Internal
Tumour predisposition - adult onset
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Adult solid tumours for rare disease (Version 1.21)
- Phenotypes
-
- Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis
- OMIM
- 600993
- Clinvar variants
- Variants in SMAD4
- Penetrance
- None
- Panels with this gene
-
- Arthrogryposis
- Hereditary haemorrhagic telangiectasia
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Inherited polyposis and early onset colorectal cancer - germline testing
- Vascular skin disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Skeletal dysplasia
- DDG2P
- Cerebral vascular malformations
- Bleeding and platelet disorders
- Fetal anomalies
- Structural eye disease
- Ehlers Danlos syndrome with a likely monogenic cause
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Adult solid tumours cancer susceptibility
- Thoracic aortic aneurysm or dissection
- Childhood solid tumours
- Inherited bleeding disorders
- Clefting
- Pulmonary arterial hypertension
History Filter Activity
31 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
17 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SMAD4 was added gene: SMAD4 was added to Tumour predisposition - adult onset. Sources: Adult solid tumours for rare disease (Version 1.21),Expert Review Green Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMAD4 were set to Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis