Adult solid tumours cancer susceptibility
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
2 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5
Clare Turnbull (Queen Mary University London)
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis
- 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
- DDG2P
- Intellectual disability
- Clefting
- Cerebral vascular malformations
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Arthrogryposis
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Skeletal dysplasia
- Hereditary haemorrhagic telangiectasia
- Childhood solid tumours cancer susceptibility
History Filter Activity
2 Aug 2019, Gel status: 3
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to SMAD4.
7 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumor Suppressor.
5 Jul 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SMAD4 was added to Adult solid tumourspanel. Source: Expert Review Green
5 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SMAD4 was added to Adult solid tumourspanel. Sources: Expert list
5 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SMAD4 was created by ellenmcdonagh