Thoracic dystrophies
Gene: ICK

ICK (intestinal cell kinase)
EnsemblGeneIds (GRCh38): ENSG00000112144
EnsemblGeneIds (GRCh37): ENSG00000112144
OMIM: 612325, Gene2Phenotype
ICK is in 12 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ICK is CILK1
Created: 25 Sep 2019, 10:03 a.m. | Last Modified: 25 Sep 2019, 10:03 a.m.

Panel Version: 1.7

Created: 25 Sep 2019, 10:03 a.m.
Last Modified: 25 Sep 2019, 10:03 a.m.
Panel version: 1.7

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Two green reviews and is green on the Unexplained skeletal dysplasia Version 1.32 gene panels. One family, one case and six infants in an Old Order Amish pedigree reported, with in vitro evidence.
Created: 26 May 2017, 12:10 p.m.

Created: 26 May 2017, 10:56 a.m.

Panel version: 0.61

Melita Irving (Guy's and St Thomas' NHS Trust)

Green List (high evidence)

Phenotypes
SRPS/ECO

Created: 26 May 2017, 8:01 a.m.

Panel version: 0.35

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

Phenotypes
SRPS/ECO

Created: 25 May 2017, 9:25 a.m.

Panel version: 0.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Endocrine-cerebroosteodysplasia, OMIM:612651
Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980

Tags

new-gene-name

OMIM

612325

Clinvar variants

Variants in ICK

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ICK were changed from Endocrine-cerebroosteodysplasia 612651; ORPHA:199332 Endocrine-cerebro-osteodysplasia syndrome to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980

25 Sep 2019, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

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

31 May 2017, Gel status: 4