Skeletal dysplasia
Gene: ICK
Dysostoses with predominant craniofacial involvement gp of SD. Only 2 unrelated families reported so far?; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Endocrine-cerebroosteodysplasia 612651
Publications
Added new-gene-name tag, new approved HGNC gene symbol for ICK is CILK1Created: 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: amberCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Two variants reported in this phenotypeCreated: 12 Jul 2016, 8:35 a.m.
Tier 1Created: 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
Phenotypes for gene: ICK were changed from Endocrine-cerebroosteodysplasia 612651 to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tag new-gene-name tag was added to gene: ICK.
Added phenotypes Endocrine-cerebroosteodysplasia 612651 for gene: ICK
Source NHS GMS was added to ICK. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for ICK were set to Endocrine-cerebroosteodysplasia 612651
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ICK was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for ICK were set to 27069622; 19185282
ICK was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
ICK was added to Unexplained skeletal dysplasiapanel. Sources:
ICK was created by sleigh