This Panel is marked as Internal
ClinGen Gene Validity Curations
Gene: SKI
SKI (SKI proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000157933
EnsemblGeneIds (GRCh37): ENSG00000157933
OMIM: 164780, Gene2Phenotype
SKI is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000157933
EnsemblGeneIds (GRCh37): ENSG00000157933
OMIM: 164780, Gene2Phenotype
SKI is in 11 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
-
- Intellectual disability
- Arthrogryposis
- DDG2P
- Thoracic aortic aneurysm or dissection
- Skeletal dysplasia
- Fetal anomalies
- Ehlers Danlos syndrome with a likely monogenic cause
- Thoracic aortic aneurysm or dissection (GMS)
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hydrocephalus
- Clefting
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