Arthrogryposis
Gene: SKI

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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Camptodactyly and congenital contractures are reported in Shprintzen-Goldberg
Created: 16 Jan 2017, 11:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Shprintzen-Goldberg syndrome 182212

Publications

Created: 16 Jan 2017, 11:54 a.m.

Panel version: 1.333

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
UKGTN
Literature
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Shprintzen-Goldberg syndrome 182212

OMIM

164780

Clinvar variants

Variants in SKI

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

16 Jan 2017, Gel status: 4