Neurological ciliopathiesGene: ICK
Added new-gene-name tag, new approved HGNC gene symbol for ICK is CILK1
Created: 25 Sep 2019, 10:08 a.m. | Last Modified: 25 Sep 2019, 10:08 a.m.
Panel Version: 0.5
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.
Phenotypes for gene: ICK were changed from short-rib thoracic dysplasia with polydactyly (SRTD); Endocrine-cerebroosteodysplasia, 612651; ECO to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tag new-gene-name tag was added to gene: ICK.
gene: ICK was added gene: ICK was added to Neurological ciliopathies. Sources: Expert Review Green 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 short-rib thoracic dysplasia with polydactyly (SRTD); Endocrine-cerebroosteodysplasia, 612651; ECO