1. Panels
  2. Skeletal dysplasia
  3. SKI
Genes in panel
Prev Next
STRs in panel
Prev Next

Skeletal dysplasia

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

Created: 1 Jan 2022, 10:17 p.m.
Last Modified: 1 Jan 2022, 10:17 p.m.
Panel version: Imported from Mendeliome panel version 0.10442

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

Created: 31 Dec 2021, 5:38 a.m.
Last Modified: 31 Dec 2021, 5:52 a.m.
Panel version: Imported from Mendeliome panel version 0.10433

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Shprintzen-Goldberg syndrome 182212
OMIM
164780
Clinvar variants
Variants in SKI
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, 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 Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SKI were set to Shprintzen-Goldberg syndrome 182212