Familial and multiple pulmonary arteriovenous malformations

Gene: SMAD4

Green List (high evidence)

SMAD4 (SMAD family member 4)
EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 27 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Eligibility statement prior genetic testing gene
Created: 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: 005111
Created: 13 Dec 2016, 10:42 a.m.

Claire Shovlin (Imperial College London)

Green List (high evidence)

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

History Filter Activity

13 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Dec 2016, Gel status: 7

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050

13 Dec 2016, Gel status: 7

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

13 Dec 2016, Gel status: 6

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Nov 2015, Gel status: 6

Added New Source

Ellen McDonagh (Genomics England Curator)

SMAD4 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Illumina TruGenome Clinical Sequencing Services

19 Nov 2015, Gel status: 4

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

30 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SMAD4 was created by ellenmcdonagh

30 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SMAD4 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Eligibility statement prior genetic testing