Skeletal dysplasia

Gene: ICK

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, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Endocrine-cerebroosteodysplasia 612651

Publications

• 27069622
• 19185282

I don't know

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: 1.202

Mouse model data

PMID: 24853502 - Moon et al 2014 - Ick null mouse embryos displayed cleft palate, hydrocephalus, polydactyly, and delayed skeletal development, closely resembling ECO syndrome phenotypes.

PMID: 24797473 - Chaya et al 2014 - ICK−/− mice died around birth probably because of respiratory failure. ICK−/− mice exhibited preaxial polydactyly in both fore and hind limbs. All four limbs were severely shortened in the ICK−/− mice at E18.5

PMID: 28380258 - Tong et al 2017 - created an Ick R272Q knock-in mouse model that recapitulates ECO pathological phenotypes. Their report focusses on the respiratory phenotype, but they report that mice displayed essential ECO pathological features such as polydactyly and shortened limbs.

Created: 16 Jul 2019, 10:27 a.m. | Last Modified: 16 Jul 2019, 10:27 a.m.

Panel Version: 1.166

PMID: 19185282 - Lahiry et al. (2009) - in 6 affected infants with Endocrine-Cerebroosteodysplasia of Old Order Amish pedigree a homozygous mutation (R272Q) was identified in the ICK gene. The phenotype was severe, involved several organ systems, and resulted in fetal or neonatal death.

PMID: 27069622 Oud et al. (2016) - a Turkish fetus with Endocrine-Cerebroosteodysplasia was found to be homozygous for a missense mutation (G120C) in the ICK gene that segregated fully with disease in the family and was not found in Turkish controls or public variant databases

PMID: 27466187 Paige Taylor et al (2016) - identified homozygosity for a missense mutation, p.E80K, in Intestinal Cell Kinase, ICK, in one short rib polydactyly syndromes family.

Created: 7 May 2019, 9:24 p.m. | Last Modified: 16 Jul 2019, 10:26 a.m.

Panel Version: 1.166

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ICK; Initial rating suggestion: amber

Created: 6 Mar 2019, 11:36 a.m.

Comment when marking as ready: Two variants reported in this phenotype

Created: 12 Jul 2016, 8:35 a.m.

Green List (high evidence)

Tier 1

Created: 17 Jun 2016, 8:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Endocrine-cerebroosteodysplasia 612651

Variants in this GENE are reported as part of current diagnostic practice