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Arthrogryposis

Gene: SKI

Green List (high evidence)

SKI (SKI proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000157933
EnsemblGeneIds (GRCh37): ENSG00000157933
OMIM: 164780, Gene2Phenotype
SKI is in 13 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

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

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Jan 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for SKI were set to Shprintzen-Goldberg syndrome 182212

16 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for SKI were set to 15884042; 23023332

16 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Jan 2017, Gel status: 2

Upload gene information

Alice Gardham (Genomics England)

SKI was added to Arthrogryposispanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Literature

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SKI was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SKI was created by ellenmcdonagh