Thoracic aortic aneurysm or dissection
Gene: SKI
182212 Shprintzen-Goldberg syndrome - syndromic CTD including aortic root dilationCreated: 25 Mar 2019, 4:30 p.m.
Doyle et al 2012 Nat Genet 44:1249 PMID:23023332 characterise several missense variants which are mostly de-novo and cluster in the SMAD2/3 binding domain and Dachshund-homology domain essential for co-repressor recrutiment. Functional analysis showed loss of repression of TGF-B signalling cascades in patient fibroblasts heterozygous for variants.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Gene currently tested on Manchester cardiac gene panel. 24 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with Shprintzen-Goldberg syndrome, which includes aortic dilatation (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Shprintzen-Goldberg syndrome (182212)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Shprintzen-Goldberg Craniosynostosis Syndrome, 182212
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Not on the Inherited Cardiac Condition Genes panel reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category.Created: 19 Feb 2016, 10:50 a.m.
Comment on mode of inheritance: Monallelic confirmed in G2P. Not on the imprinting gene list.Created: 1 Feb 2016, 12:03 p.m.
Comment on list classification: Two reviewers agree this should be on the green list. Confirmed DD gene.Created: 1 Feb 2016, 12:03 p.m.
Source South West GLH was added to SKI.
Source London South GLH was added to SKI.
Source North West GLH was added to SKI. Added phenotypes Shprintzen-Goldberg syndrome (182212) for gene: SKI Publications for gene SKI were changed from 23023332; 23103230; 24736733; 27146836 to 23023332 Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for SKI were set to 23023332; 23103230; 24736733; 27146836
This gene has been classified as Green List (High Evidence).
Phenotypes for SKI were set to Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders; Shprintzen-Goldberg Craniosynostosis Syndrome, 182212; Shprintzen-Goldberg Craniosynostosis Syndrome, 182212
Publications for SKI were set to PMID: 23023332; 23103230; 24736733
Mode of inheritance for SKI was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Phenotypes for SKI were set to Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders; Shprintzen-Goldberg Craniosynostosis Syndrome, 182212
SKI was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Emory Genetics Laboratory