Cerebral vascular malformations
Gene: SMAD4EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 23 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Combined reviews with Ian Berry (YNELGH), Vijeya Ganesan (Clinical expert - GOSH / ICH) & GEL clinical team (Richard Scott / Helen Brittain): relevant phenotype and sufficient evidence for a green ratingCreated: 29 Nov 2019, 7 p.m. | Last Modified: 29 Nov 2019, 7 p.m.
Panel Version: 1.67
Alice Gardham (Genomics England)
Comment when marking as ready: Green on HHT panelCreated: 14 Dec 2016, 3:40 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050
- 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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050 to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to SMAD4.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SMAD4.
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Alice Gardham (Genomics England)SMAD4 was created by agardham
Added New Source
Alice Gardham (Genomics England)SMAD4 was added to Cerebrovascular disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN