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  3. ILK
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Dilated Cardiomyopathy and conduction defects

Gene: ILK

Red List (low evidence)
ILK (integrin linked kinase)
EnsemblGeneIds (GRCh38): ENSG00000166333
EnsemblGeneIds (GRCh37): ENSG00000166333
OMIM: 602366, Gene2Phenotype
ILK is in 2 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

No phenotype on OMIM
Created: 25 Mar 2019, 4:30 p.m.
HGMD: 2 DM variants in this gene (1 x DCM and 1 x HCM) and 5 associated with DCM overall - 1 x DCM Knoll 2007 - some functional studies to support pathogenicity [1 xHCM. Bottillo (2016) Gene 577: 227 PubMed: 26656175]. Dalin 2017 reports four missense variants assoc with DCM (3 by Haas 2015 as VUS - one also reported in Knoll - has no GnomAD freq). One patient had a previously reported MYBPC3 variant and one had a TTN frameshift variant.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.55

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Created: 6 Jan 2016, 5:12 p.m.

Panel version: 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert list
OMIM
602366
Clinvar variants
Variants in ILK
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to ILK. Mode of inheritance for gene ILK was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ILK was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list