Familial and multiple pulmonary arteriovenous malformations
Gene: SMAD4EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 23 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Eligibility statement prior genetic testing geneCreated: 13 Dec 2016, 10:42 a.m.
Comment on phenotypes: Also associated with Myhre syndrome 139210; Pancreatic cancer, somatic 260350;Polyposis, juvenile intestinal 174900.
The following HPO terms added by expert reviewer Claire Shovlin: Pulmonary arteriovenous malformation (HP:0006548); Epistaxis (HP:0000421); Nasal mucosa telangiectasia (HP:0000434); Lip telangiectasia (HP:0000214); Tongue telangiectasia (HP:0000227); Palate telangiectasia (HP:0002707) Finger pad telangiectasia (pulp not nail side); Gastrointestinal telangiectasia (HP:0002604); Arteriovenous malformation (HP:0100026); Cerebral arteriovenous malformation (HP:0002408); Hepatic arteriovenous malformation (HP:0006574)Spinal arteriovenous malformation (HP:0002390). Additional phenotypes secondary to these diagnostic criteria. Juvenile polyposis HP: 0012198; Dilatation ascending aorta HP: 005111Created: 13 Dec 2016, 10:42 a.m.
Claire Shovlin (Imperial College London)
Phenotypes
Pulmonary arteriovenous malformation (HP:0006548); Epistaxis (HP:0000421); Nasal mucosa telangiectasia (HP:0000434); Lip telangiectasia (HP:0000214); Tongue telangiectasia (HP:0000227); Palate telangiectasia (HP:0002707) Finger pad telangiectasia (pulp not nail side); Gastrointestinal telangiectasia (HP:0002604); Arteriovenous malformation (HP:0100026); Cerebral arteriovenous malformation (HP:0002408); Hepatic arteriovenous malformation (HP:0006574)Spinal arteriovenous malformation (HP:0002390). Additional phenotypes secondary to these diagnostic criteria. Juvenile polyposis HP: 0012198; Dilatation ascending aorta HP: 005111
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 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
- Clefting
- Structural eye disease
- Skeletal dysplasia
- Cerebral vascular malformations
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Childhood solid tumours
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
- Inherited polyposis and early onset colorectal cancer - germline testing
- Hereditary haemorrhagic telangiectasia
- Childhood solid tumours cancer susceptibility
History Filter Activity
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050
Upload gene information
Sarah Leigh (Genomics England Curator)SMAD4 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Eligibility statement prior genetic testing,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Model of inheritance for gene SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)SMAD4 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)SMAD4 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Radboud University Medical Center, Nijmegen SMAD4 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Illumina TruGenome Clinical Sequencing Services SMAD4 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Emory Genetics Laboratory SMAD4 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: UKGTN Model of inheritance for gene SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created
Ellen McDonagh (Genomics England Curator)SMAD4 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)SMAD4 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Eligibility statement prior genetic testing