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Skeletal Dysplasia_Fetal

Gene: ICK

Green List (high evidence)
ICK (intestinal cell kinase)
EnsemblGeneIds (GRCh38): ENSG00000112144
EnsemblGeneIds (GRCh37): ENSG00000112144
OMIM: 612325, Gene2Phenotype
ICK is in 11 panels

2 reviews

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

3 families reported, functional studies and animal models.

PMID: 19185282; 6 affected from 2 Amish families with endocrine-cerebro-osteodysplasia (ECO)

PMID: 27069622; A different variant reported in a Turkish fetus presenting with ECO and overlapping features of ciliopathies. Functional studies showed abnormal ciliary localization.

PMID: 27466187; Additional variant identified in a patient with short rib polydactyly syndromes (SRPS). Functional studies showed that the variant caused ciliary defects

PMID: 24797473; Ick deficient mice showed ciliary defects. Authors concluded that ICK is required for normal ciliogenesis

PMID: 24853502; Ick knockout mice recapitulates clinical symptoms of ECO. Defects in ICK caused aberrant ciliogenesis
Created: 3 May 2020, 11:05 p.m. | Last Modified: 3 May 2020, 11:10 p.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Endocrine-cerebroosteodysplasia (MIM#612651)

Publications

Created: 3 May 2020, 11:05 p.m.
Last Modified: 3 May 2020, 11:10 p.m.
Panel version: Imported from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy panel version 0.11

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ciliopathy phenotype.

Sources: Expert list
Created: 1 Jan 2020, 11:11 p.m. | Last Modified: 11 Feb 2022, 7:03 a.m.
Panel Version: 0.3290

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Endocrine-cerebroosteodysplasia, MIM# 612651

Publications

Created: 1 Jan 2020, 11:11 p.m.
Last Modified: 11 Feb 2022, 7:03 a.m.
Panel version: Imported from Fetal anomalies panel version 0.3290

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
OMIM
612325
Clinvar variants
Variants in ICK
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ICK was added gene: ICK was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ICK was set to Unknown