Inherited bleeding disorders
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
Louise Daugherty (Genomics England Curator)
Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.Created: 20 Sep 2018, 5 p.m.
New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SSC meeting Dublin 2018.
Sources: Expert listCreated: 20 Sep 2018, 4:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Bleeding disorder
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
- Bleeding disorder
- OMIM
- 600993
- Clinvar variants
- Variants in SMAD4
- Penetrance
- None
- Panels with this gene
-
- Vascular skin disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Pulmonary arterial hypertension
- Bleeding and platelet disorders
- Skeletal dysplasia
- Clefting
- Structural eye disease
- Cerebral vascular malformations
- Childhood solid tumours
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Arthrogryposis
- Adult solid tumours cancer susceptibility
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- DDG2P
- Inherited polyposis and early onset colorectal cancer - germline testing
- Hereditary haemorrhagic telangiectasia
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
20 Sep 2018, Gel status: 3
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: smad4 has been classified as Green List (High Evidence).
20 Sep 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)gene: SMAD4 was added gene: SMAD4 was added to Inherited bleeding disorders. Sources: Expert list Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Bleeding disorder Review for gene: SMAD4 was set to GREEN