Cardiomyopathies - including childhood onsetGene: NEBL
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
No phenotype on OMIM. DCM, HCM and LVNC in literature
Created: 25 Mar 2019, 4:30 p.m.
DCM: Purevjav 2010 J Am Coll Cardiol. 56(18): 14931502. LVNC/DCM?HCM paper Perrot 2016 - DOI: 10.5114/aoms.2016.59250. Four DM variants on HGMD but two have been downgraded by us. Experience in lab suggests the variants detected are have high frequency.
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 NEBL.
gene: NEBL was added gene: NEBL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted