Ehlers Danlos syndrome with a likely monogenic cause
Gene: SKIEnsemblGeneIds (GRCh38): ENSG00000157933
EnsemblGeneIds (GRCh37): ENSG00000157933
OMIM: 164780, Gene2Phenotype
SKI is in 11 panels
5 reviews
Duncan Baker (Sheffield Genetics)
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SKI; Suggested initial gene rating: greenCreated: 3 Apr 2019, 3:41 p.m.
Angela Brady (Nhs)
Neeti Ghali (NWTRGS, Northwick Park Hospital)
Louise Daugherty (Genomics England Curator)
Refer to clinical team for further discussion on wether we should include this gene on the EDS panel. There is clinical overlap between EDS and other Heritable Connective Tissue Disorders.Created: 28 Apr 2017, 11:50 a.m.
Comment on phenotypes: There is clinical overlap between EDS and other Heritable Connective Tissue Disorders like Shprintzen-Goldberg syndrome (SGS), which is a disorder comprising craniosynostosis, a marfanoid habitus, and skeletal, neurologic, cardiovascular, and connective tissue anomalies.Created: 26 Apr 2017, 1:27 p.m.
Comment on publications: Added publications to support gene is involved in the disorder(s) in 3 or more unrelated casesCreated: 26 Apr 2017, 1:09 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Expert list
- Emory Genetics Laboratory
- Phenotypes
-
- Shprintzen-Goldberg syndrome, OMIM:182212
- OMIM
- 164780
- Clinvar variants
- Variants in SKI
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hydrocephalus
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Intellectual disability
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Clefting
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome, 182212 to Shprintzen-Goldberg syndrome, OMIM:182212
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to SKI. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Louise Daugherty (Genomics England Curator)25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Upload gene information
Louise Daugherty (Genomics England Curator)SKI was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for SKI was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set publications
Louise Daugherty (Genomics England Curator)Publications for SKI were set to 23023332;24736733;24736733
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for SKI were set to Shprintzen-Goldberg syndrome, 182212
Added New Source
Ellen McDonagh (Genomics England Curator)SKI was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list
Created
Ellen McDonagh (Genomics England Curator)SKI was created by ellenmcdonagh