Aortopathy_Connective Tissue Disorders

Gene: SKI

Green List (high evidence)

SKI (SKI proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000157933
EnsemblGeneIds (GRCh37): ENSG00000157933
OMIM: 164780, Gene2Phenotype
SKI is in 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

"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 UK
Created: 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

History Filter Activity

29 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome, MIM#164780 to Shprintzen-Goldberg syndrome, MIM#182212

25 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ski has been classified as Green List (High Evidence).

25 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SKI were changed from to Shprintzen-Goldberg syndrome, MIM#164780

25 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SKI were set to

25 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SKI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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