Cardiomyopathies - including childhood onsetGene: LDB3
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Cardiomyopathy, dilated, 1C, with or without LVNC OMIM#601493; Cardiomyopathy, hypertrophic, 24 OMIM#601493; Left ventricular noncompaction 3 OMIM#601493; Myopathy, myofibrillar, 4 OMIM#609452.
Created: 25 Mar 2019, 4:30 p.m.
HGMD: Four variants assoc with DCM - only one DM. Haas 2015 lists 2 as VUS. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748 and Hershberger 2013 Nat Rev Cardiol 10:531. Vatta J Am Coll Cardiol. 2003 Dec 3;42(11):2014-27: two paediatric onset cases but quite old literature.
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 NHS GMS was added to LDB3. Source Expert Review Amber was added to LDB3. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
gene: LDB3 was added gene: LDB3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LDB3 were set to Left ventricular noncompaction 3, with or without dilated cardiomyopathy; Cardiomyopathy, dilated 1C