GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ICK

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

2 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: 0.32

Created: 25 Sep 2019, 10:06 a.m.
Last Modified: 25 Sep 2019, 10:06 a.m.
Panel version: 0.32

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Dysostoses with predominant craniofacial involvement gp of SD. Only 2 unrelated families reported so far?; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Endocrine-cerebroosteodysplasia 612651

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
NHS GMS

Phenotypes

Endocrine-cerebroosteodysplasia 612651

Tags

new-gene-name

OMIM

612325

Clinvar variants

Variants in ICK

Penetrance

None

Panels with this gene

History Filter Activity

25 Sep 2019, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

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

6 Mar 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: ICK was added gene: ICK was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia 612651

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ICK