Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

Clefting
Gene: ICK

ICK (intestinal cell kinase)
EnsemblGeneIds (GRCh38): ENSG00000112144
EnsemblGeneIds (GRCh37): ENSG00000112144
OMIM: 612325, Gene2Phenotype
ICK is in 12 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: 1.59

Created: 25 Sep 2019, 10:07 a.m.
Last Modified: 25 Sep 2019, 10:07 a.m.
Panel version: 1.59

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

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

Created: 31 May 2017, 11 a.m.

Panel version: 0.284

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Endocrine-cerebroosteodysplasia, OMIM:612651
Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980

Tags

new-gene-name

OMIM

612325

Clinvar variants

Variants in ICK

Penetrance

Complete

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 (includes cleft lip, cleft palate); ECO 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.

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ICK was added to Cleftingpanel. Sources: Expert Review Green

31 May 2017, Gel status: 0

Created