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Rare multisystem ciliopathy disorders

Gene: ICK

Green List (high evidence)

ICK (intestinal cell kinase)
EnsemblGeneIds (GRCh38): ENSG00000112144
EnsemblGeneIds (GRCh37): ENSG00000112144
OMIM: 612325, Gene2Phenotype
ICK is in 14 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, 10:07 a.m. | Last Modified: 25 Sep 2019, 10:07 a.m.
Panel Version: 1.119

Rebecca Foulger (Genomics England curator)

Comment on list classification: Added gene to panel as Green: Sufficient (3) cases of ICK variants in Endocrine-cerebroosteodysplasia (ECO) patients plus functional studies showing role of ICK in ciliogenesis. A second ECO patient reported in PMID:27069622 showed phenotypes resembling short-rib thoracic dysplasia with polydactyly (SRTD), and the authors say this provides additional support for inclusion of ECO syndrome in the severe ciliary disease spectrum. Helen Brittain confirmed the Green rating saying the phenotype overlaps with Jeune syndrome, and in view of the skeletal, polydactyly, cystic kidney aspects of this disorder HB is happy there is sufficient overlap for inclusion.
Created: 1 Nov 2018, 3:07 p.m.
6 infants from 2 (probably related) Amish families affected with ECO syndrome, and with an R272Q variant in ICK, were reported in PMID 19185282 (2009). Affected individuals had postaxial polydactyly, micromelia (shortening of upper limbs), ulnar deviation of the hands and bowed forearms amongst their limb phenotypes.

PMID:27069622 (2016) report an a second Endocrine-cerebroosteodysplasia (ECO) patient with symptoms that resemble short-rib thoracic dysplasia with polydactyly (SRTD), including polydactyly. PMID:27069622 also performed functional studies and found that ECO patient-derived fibroblasts display reduced ciliogenesis, thus providing additional support for inclusion of ECO syndrome in the severe ciliary disease spectrum.

PMID:27466187 (Paige et al. 2016) performed exome sequencing in a cohort of short rib polydactyly syndrome (SRPS) patients and identified homozygosity for a missense variant p.E80K, in ICK in one SRPS family. The affected male was initially identified by prenatal ultrasound with features of a severe skeletal dysplasia associated with multiple limb anomalies including rhizomelia, mesomelia with bending and polydactyly. The p.E80K mutation abolished resulted in ciliary defects.
Created: 1 Nov 2018, 3:04 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Endocrine-cerebroosteodysplasia, OMIM:612651
  • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
new-gene-name
OMIM
612325
Clinvar variants
Variants in ICK
Penetrance
None
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; ECO; short-rib thoracic dysplasia with polydactyly (SRTD) 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.

1 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ick has been classified as Green List (High Evidence).

1 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: ICK was added gene: ICK was added to Rare multisystem ciliopathy disorders. Sources: Literature Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ICK were set to 19185282; 27069622; 27466187 Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia, 612651; ECO; short-rib thoracic dysplasia with polydactyly (SRTD)