Paediatric or syndromic cardiomyopathy
Gene: ILK
ILK (integrin linked kinase)
EnsemblGeneIds (GRCh38): ENSG00000166333
EnsemblGeneIds (GRCh37): ENSG00000166333
OMIM: 602366, Gene2Phenotype
ILK is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000166333
EnsemblGeneIds (GRCh37): ENSG00000166333
OMIM: 602366, Gene2Phenotype
ILK is in 2 panels
2 reviews
Ivone Leong (Genomics England Curator)
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)
No phenotype on OMIMCreated: 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 reportedCreated: 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