Aortopathy_Connective Tissue Disorders
Gene: SKI
Comment when marking as ready: Syndromic connective tissue disorder.Created: 25 Jun 2020, 9:13 a.m. | Last Modified: 25 Jun 2020, 9:13 a.m.
Panel Version: 0.76
Phenotypes
Shprintzen-Goldberg syndrome, MIM#182212
"Limited" evidence by ClinGen Aortopathy Working Group but:
"Diagnosis of Loeys-Dietz syndrome versus Shprintzen-Goldberg syndrome is thus important for correct management and risk stratification, and supports the conclusion that the gene for Shprintzen- Goldberg syndrome, SKI, should be included in diagnostic panels for characteristic syndromic presentations, especially in the pediatric setting."
>20 individuals described in the context of Shprintzen-Goldberg syndrome which can involve aortic dilatations (PMID 23023332, 24736733)
Also Green on PanelApp UKCreated: 25 Jun 2020, 3:29 a.m. | Last Modified: 25 Jun 2020, 3:30 a.m.
Panel Version: 0.26
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Shprintzen-Goldberg syndrome, MIM#164780
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome, MIM#164780 to Shprintzen-Goldberg syndrome, MIM#182212
Gene: ski has been classified as Green List (High Evidence).
Phenotypes for gene: SKI were changed from to Shprintzen-Goldberg syndrome, MIM#164780
Publications for gene: SKI were set to
Mode of inheritance for gene: SKI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: SKI was added gene: SKI was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SKI was set to Unknown