Genes in panel
STRs in panel
Prev Next

Cardiomyopathies - including childhood onset

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

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

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. Summary: Not enough evidence to include and no segregation reported
Created: 25 Mar 2019, 4:27 p.m.

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

Details

Mode of Inheritance
Unknown
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
OMIM
602366
Clinvar variants
Variants in ILK
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ILK.

4 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: ILK was added gene: ILK was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH Mode of inheritance for gene: ILK was set to Unknown