Research panel - Severe Paediatric Disorders
Gene: ICK

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CILK1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Endocrine-cerebroosteodysplasia, 612651 (3) | {Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.

Panel Version: 0.12

Added new-gene-name tag, new approved HGNC gene symbol for ICK is CILK1 (current gene symbol submitted by Next Generation Children Project)
Created: 17 Feb 2020, 10:11 a.m. | Last Modified: 17 Feb 2020, 10:11 a.m.

Panel Version: 0.7

Created: 17 Feb 2020, 10:11 a.m.
Last Modified: 17 Feb 2020, 10:11 a.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

{Epilepsy, juvenile myoclonic, susceptibility to, 10}, OMIM:617924
Endocrine-cerebroosteodysplasia, OMIM:612651
Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980

Tags

new-gene-name

OMIM

612325

Clinvar variants

Variants in ICK

Penetrance

None

Publications

30847515

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 {Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924; Endocrine-cerebroosteodysplasia, 612651 to {Epilepsy, juvenile myoclonic, susceptibility to, 10}, OMIM:617924; Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980

21 Feb 2020, Gel status: 3