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  3. SKI
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Fetal anomalies

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)

GoF mechanism for Shprintzen-Goldberg syndrome.

Emerging evidence that LoF variants cause a distinct neurodevelopmental disorder where congenital anomalies are not prominent.
Created: 1 Jan 2022, 10:21 a.m. | Last Modified: 1 Jan 2022, 10:21 a.m.
Panel Version: 0.1736

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Shprintzen-Goldberg syndrome, MIM#182212

Created: 1 Jan 2022, 10:21 a.m.
Last Modified: 1 Jan 2022, 10:21 a.m.
Panel version: 0.1736

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Comment on mode of pathogenicity: LoF not fully established on only missense described so far. Some functional work suggest potential GoF for TGF beta signalling, but not conclusive. Not enough evidence so far to go against LoF.
Created: 31 Dec 2021, 5:51 a.m. | Last Modified: 31 Dec 2021, 5:51 a.m.
Panel Version: 0.1724
well established gene disease association with craniosynostosis, skeletal, and cardiovascular anomalies, high-arched palate, micrognathia. Inguinal or umbilical hernia also described. Most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis.
Created: 31 Dec 2021, 5:36 a.m. | Last Modified: 31 Dec 2021, 5:36 a.m.
Panel Version: 0.1720

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Shprintzen-Goldberg syndrome, MIM#182212

Publications

Created: 31 Dec 2021, 5:36 a.m.
Last Modified: 31 Dec 2021, 5:36 a.m.
Panel version: 0.1720

History Filter Activity

31 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

31 Dec 2021, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: SKI were set to 15884042; 23023332

31 Dec 2021, Gel status: 3

Set mode of pathogenicity

Seb Lunke (Victorian Clinical Genetics Services)

Mode of pathogenicity for gene: SKI was changed from to None

31 Dec 2021, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SKI were changed from SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME to Shprintzen-Goldberg syndrome, MIM#182212

31 Dec 2021, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: SKI were set to

31 Dec 2021, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

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

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SKI was added gene: SKI was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SKI were set to SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME