Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: SKI

SKI (SKI proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000157933
EnsemblGeneIds (GRCh37): ENSG00000157933
OMIM: 164780, Gene2Phenotype
SKI is in 11 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Marfanoid CSS syndrome. Mutational hostpot S31-P35. Haploinsufficiency gives a different phenotype? (1p36del syndrome) ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Shprintzen-Goldberg syndrome - 182212

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 5 Mar 2019, 11:33 a.m.

Panel version: 1.47

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SKI; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Created: 5 Mar 2019, 11:21 a.m.

Panel version: 1.46

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Missense mutations and in-frame deletions localised to R-SMAD and DHD domains
Created: 14 Sep 2015, 12:25 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Shprintzen-Goldberg syndrome

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 14 Sep 2015, 12:25 p.m.

Panel version: 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green
Expert list

Phenotypes

Shprintzen-Goldberg syndrome 182212
182212

OMIM

164780

Clinvar variants

Variants in SKI

Penetrance

Complete

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

11 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Shprintzen-Goldberg syndrome 182212 for gene: SKI

5 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SKI. Rating Changed from Green List (high evidence) to Green List (high evidence)

1 Feb 2016, Gel status: 4