Hereditary haemorrhagic telangiectasia
Gene: SMAD4
On CGGL Royal Brompton HHT diagnostic panel. Extensive literature evidence. causes combined syndrome of HHT and juvenile polyposis syndromeCreated: 22 Sep 2019, 8:09 p.m. | Last Modified: 22 Sep 2019, 8:09 p.m.
Panel Version: 1.51
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
OMIM: 175050 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted SMAD4; Suggested initial gene rating: Green; Evidence for inclusion: OMIM Juvenile polyposis & HHT gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 6 Dec 2018, 12:36 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and as a "Plausible disease-causing mutations within, affecting or encompassing the coding region of a single gene identified in multiple (>3) unrelated cases/families with both a developmental disorder and an incidental (nondevelopmental)" disorder Developmental Disorder Gene / G2P. At least 7 variants reported.Created: 12 Dec 2016, 11:48 a.m.
Comment on phenotypes: Also associated with Polyposis, juvenile intestinal, 174900; Myhre syndrome, 139210; Pancreatic cancer, somatic 260350.
Additional HPO terms added by Claire Shovlin: 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); Pulmonary arteriovenous malformation (HP:0006548); 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: 12 Dec 2016, 11:44 a.m.
OMIM #175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT.
Created: 13 Nov 2016, 10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
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); Pulmonary arteriovenous malformation (HP:0006548); 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
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to SMAD4. Rating Changed from Green List (high evidence) to Green List (high evidence)
SMAD4 was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Eligibility statement prior genetic testing
Promoted to V1 (12th December 2016)
This gene has been classified as Green List (High Evidence).
Phenotypes for SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Phenotypes for SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; ; Hereditary Hemorrhagic Telangiectasia; Hereditary hemorrhagic telangiectasia (HHT); Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Publications for SMAD4 were set to 15031030
Mode of inheritance for SMAD4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
SMAD4 was added to Hereditary haemorrhagic telangiectasiapanel. Source: Illumina TruGenome Clinical Sequencing Services
SMAD4 was added to Hereditary haemorrhagic telangiectasiapanel. Source: UKGTN
SMAD4 was added to Hereditary haemorrhagic telangiectasiapanel. Source: Emory Genetics Laboratory
SMAD4 was added to Hereditary haemorrhagic telangiectasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SMAD4 was added to Hereditary haemorrhagic telangiectasiapanel. Source: Radboud University Medical Center, Nijmegen
SMAD4 was created by ellenmcdonagh
SMAD4 was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Eligibility statement prior genetic testing