Ehlers Danlos syndromesGene: SKI
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: green
Created: 3 Apr 2019, 3:41 p.m.
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 cases
Created: 26 Apr 2017, 1:09 p.m.
Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome, 182212 to Shprintzen-Goldberg syndrome, OMIM:182212
Source NHS GMS was added to SKI. Rating Changed from Green List (high evidence) to Green List (high evidence)
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
SKI was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SKI was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for SKI were set to 23023332;24736733;24736733
Phenotypes for SKI were set to Shprintzen-Goldberg syndrome, 182212
SKI was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list
SKI was created by ellenmcdonagh