Dilated Cardiomyopathy and conduction defectsGene: ILK
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
Source South West GLH was added to ILK. Mode of inheritance for gene ILK was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
ILK was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list