Clefting
Gene: ICKAdded new-gene-name tag, new approved HGNC gene symbol for ICK is CILK1Created: 25 Sep 2019, 10:07 a.m. | Last Modified: 25 Sep 2019, 10:07 a.m.
Panel Version: 1.59
Summary - 2 unrelated cases (2 Amish families, plus Turkish fetus), plus mouse model shows clefting. Detail - 6 infants from 2 Amish families affected with ECO syndrome, and with an R272Q variant in ICK, were reported in PMID 19185282 - features including cleft lip/palate, and all had fetal, neonatal death. A 2016 paper (PMID 27069622) report a second ICK variant (G120C) in a Turkish fetus with ECO syndrome. Ick null mouse embryos displayed cleft palate (PMID 24853502).Created: 31 May 2017, 12:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Endocrine-cerebroosteodysplasia, 612651 (includes cleft lip, cleft palate); ECO
Publications
Phenotypes for gene: ICK were changed from Endocrine-cerebroosteodysplasia, 612651 (includes cleft lip, cleft palate); ECO to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tag new-gene-name tag was added to gene: ICK.
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
ICK was added to Cleftingpanel. Sources: Expert Review Green
ICK was created by ellenmcdonagh