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Hydrocephalus
Gene: ICK

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

3 reviews

Eleanor Williams (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ICK is CILK1
Created: 25 Sep 2019, 10:03 a.m. | Last Modified: 25 Sep 2019, 10:03 a.m.

Panel Version: 1.37

Created: 25 Sep 2019, 10:03 a.m.
Last Modified: 25 Sep 2019, 10:03 a.m.
Panel version: 1.37

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.

Panel Version: 1.34

Created: 29 Jul 2019, 2:49 p.m.
Last Modified: 29 Jul 2019, 2:49 p.m.
Panel version: 1.34

Helen Brittain (Genomics England Curator)

I don't know

Comment when marking as ready: Only a single missense mutation reported in two Amish families to date.
Created: 30 May 2017, 8 a.m.

Comment on mode of inheritance: Original review by me had erroneous MOI. Corrected.
Created: 30 May 2017, 7:59 a.m.

Comment on list classification: Two unrelated families to date. From a founder population with the same mutation.
Created: 30 May 2017, 7:59 a.m.

Only two families to date. Relevant phenotype. Watchlist.
Created: 30 May 2017, 7:57 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Endocrine-cerebroosteodysplasia 612651

Publications

19185282

Mode of pathogenicity
Other

Created: 30 May 2017, 7:57 a.m.

Panel version: 0.101

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Amber
Literature

Phenotypes

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

Tags

watchlist new-gene-name

OMIM

612325

Clinvar variants

Variants in ICK

Penetrance

Complete

Publications

19185282

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ICK were changed from Endocrine-cerebroosteodysplasia 612651 to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980

25 Sep 2019, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag new-gene-name tag was added to gene: ICK.

29 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ICK.

31 May 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

30 May 2017, Gel status: 2