Thoracic aortic aneurysm or dissection
Gene: SKIEnsemblGeneIds (GRCh38): ENSG00000157933
EnsemblGeneIds (GRCh37): ENSG00000157933
OMIM: 164780, Gene2Phenotype
SKI is in 11 panels
5 reviews
Rebecca Whittington (South West GLH)
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
James Eden (Manchester)
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
David Parry (University of Edinburgh)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Shprintzen-Goldberg Craniosynostosis Syndrome, 182212
Nick Camm (NHS)
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- London South GLH
- North West GLH
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
- Shprintzen-Goldberg Craniosynostosis Syndrome, 182212
- Shprintzen-Goldberg syndrome (182212)
- OMIM
- 164780
- Clinvar variants
- Variants in SKI
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hydrocephalus
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Fetal anomalies
- Clefting
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to SKI.
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to SKI.
Added New Source, Set Phenotypes, Set publications, Status Update
Ellen McDonagh (Genomics England Curator)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)
Set publications
Rebecca Foulger (Genomics England curator)Publications for SKI were set to 23023332; 23103230; 24736733; 27146836
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SKI were set to PMID: 23023332; 23103230; 24736733
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SKI was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SKI were set to Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders; Shprintzen-Goldberg Craniosynostosis Syndrome, 182212
Added New Source
Ellen McDonagh (Genomics England Curator)SKI was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Emory Genetics Laboratory