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Mendeliome

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 missense are responsible for Shprintzen-Goldberg syndrome.

Emerging evidence that LoF variants cause a distinct neurodevelopmental disorder.
Created: 1 Jan 2022, 10:17 p.m. | Last Modified: 1 Jan 2022, 10:17 p.m.
Panel Version: 0.10442

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Shprintzen-Goldberg syndrome, MIM#182212

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

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.

LoF not fully established as 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, 5:52 a.m.
Panel Version: 0.10433

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Shprintzen-Goldberg syndrome, MIM#182212

Publications

Variants in this GENE are reported as part of current diagnostic practice

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 Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SKI were changed from 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 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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SKI was set to Unknown