Dilated Cardiomyopathy
Gene: ILK

ILK (integrin linked kinase)
EnsemblGeneIds (GRCh38): ENSG00000166333
EnsemblGeneIds (GRCh37): ENSG00000166333
OMIM: 602366, Gene2Phenotype
ILK is in 5 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies, although 1 also had a TTN frameshift variant. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).
Created: 5 Aug 2020, 2:24 a.m. | Last Modified: 5 Aug 2020, 2:32 a.m.

Panel Version: 0.55

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dilated cardiomyopathy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Aug 2020, 2:24 a.m.
Last Modified: 5 Aug 2020, 2:32 a.m.
Panel version: 0.55

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Dilated cardiomyopathy

OMIM

602366

Clinvar variants

Variants in ILK

Penetrance

None

Publications

Panels with this gene