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  2. Osteogenesis imperfecta
  3. ICK
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Osteogenesis imperfecta

Gene: ICK

No list
ICK (intestinal cell kinase)
EnsemblGeneIds (GRCh38): ENSG00000112144
EnsemblGeneIds (GRCh37): ENSG00000112144
OMIM: 612325, Gene2Phenotype
ICK is in 12 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ICK is CILK1
Created: 25 Sep 2019, 10:06 a.m. | Last Modified: 25 Sep 2019, 10:06 a.m.
Panel Version: 2.0
Created: 25 Sep 2019, 10:06 a.m.
Last Modified: 25 Sep 2019, 10:06 a.m.
Panel version: 2.0

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Remove from panel
Created: 27 Nov 2015, 3:04 p.m.
Created: 27 Nov 2015, 3:04 p.m.

Panel version: 0

Details

Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Endocrine-cerebroosteodysplasia, OMIM:612651
  • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
new-gene-name curated_removed
OMIM
612325
Clinvar variants
Variants in ICK
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: ICK.

29 Jan 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ICK were changed from Disproportionate Short Stature to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980

25 Sep 2019, Gel status: 0

Added Tag

Eleanor Williams (Genomics England Curator)

Tag new-gene-name tag was added to gene: ICK.

12 May 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

12 May 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ICK was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory