Clefting
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
Helen Brittain (Genomics England Curator)
Causation clear. Cleft noted in 1 of 15 patients in one review.Created: 26 May 2017, 7:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
- SGS
- OMIM
- 164780
- Clinvar variants
- Variants in SKI
- Penetrance
- Complete
- Panels with this gene
-
- Hydrocephalus
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Intellectual disability
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Clefting
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 0
Created
Helen Brittain (Genomics England Curator)SKI was created by helen.brittain
26 May 2017, Gel status: 4
Added New Source
Helen Brittain (Genomics England Curator)SKI was added to Cleftingpanel. Sources: Expert Review Green