Familial and multiple pulmonary arteriovenous malformations
Gene: SMAD4Comment 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.
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
This gene has been classified as Green List (High Evidence).
Phenotypes for SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050
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
Model of inheritance for gene SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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: 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
SMAD4 was created by ellenmcdonagh
SMAD4 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Eligibility statement prior genetic testing