ClinGen Gene Validity Curations

Gene: SKI

Green List (high evidence)

SKI (SKI proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000157933
EnsemblGeneIds (GRCh37): ENSG00000157933
OMIM: 164780, Gene2Phenotype
SKI is in 13 panels

1 review

Ellen McDonagh (Genomics England Curator)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Shprintzen-Goldberg syndrome
  • OrphaNet ORPHA2462
  • OMIM182212
OMIM
164780
Clinvar variants
Variants in SKI
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SKI was added to ClinGen Gene Validity Curationspanel. Source: Expert Review Green

20 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SKI was created by ellenmcdonagh

20 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SKI was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen