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Severe Paediatric Disorders

Gene: SKI

Green List (high evidence)

SKI (SKI proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000157933
EnsemblGeneIds (GRCh37): ENSG00000157933
OMIM: 164780, Gene2Phenotype
SKI is in 14 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SKI; Recommended initial gene rating: Green List (high evidence); Phenotypes: Shprintzen-Goldberg syndrome, 182212 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Shprintzen-Goldberg syndrome, 182212
OMIM
164780
Clinvar variants
Variants in SKI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SKI were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Shprintzen-Goldberg syndrome, 182212 for gene: SKI

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Shprintzen-Goldberg syndrome, 182212 for gene: SKI

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Shprintzen-Goldberg syndrome, 182212 for gene: SKI

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Shprintzen-Goldberg syndrome, 182212 for gene: SKI

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SKI was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Shprintzen-Goldberg syndrome, 182212 for gene: SKI

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SKI.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SKI. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SKI was added gene: SKI was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SKI was set to