Dilated Cardiomyopathy and conduction defectsGene: NPPA
Atrial fibrillation, familial, 6 OMIM#612201; Atrial standstill 2 OMIM#615745
Created: 25 Mar 2019, 4:30 p.m.
AR disease: Disertori (Circ Cardiovasc Genet. 2013 Feb;6(1):27-36. doi: 10.1161/CIRCGENETICS.112.963520. Epub 2012 Dec 29).ARg150Gln identified in the homozygous state in six individuals in a small region of Italy patients had DCM and atrial standstill.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
On the Inherited Cardiac Condition Genes panel for Dilated cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1.
Created: 19 Feb 2016, 2:25 p.m.
Source South West GLH was added to NPPA. Mode of inheritance for gene NPPA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NPPA was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Literature
NPPA was created by ellenmcdonagh