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  3. NPPA
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Dilated Cardiomyopathy and conduction defects

Gene: NPPA

Red List (low evidence)
NPPA (natriuretic peptide A)
EnsemblGeneIds (GRCh38): ENSG00000175206
EnsemblGeneIds (GRCh37): ENSG00000175206
OMIM: 108780, Gene2Phenotype
NPPA is in 1 panel

2 reviews

Rebecca Whittington (South West GLH)

I don't know

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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.55

Ellen McDonagh (Genomics England Curator)

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.
Created: 19 Feb 2016, 2:25 p.m.

Panel version: 1.3

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Literature
Phenotypes
  • Dilated cardiomyopathy
OMIM
108780
Clinvar variants
Variants in NPPA
Penetrance
Complete
Publications
  • 23275345
  • doi:10.​1007/​s12265-016-9673-5
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

19 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NPPA was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Literature

19 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NPPA was created by ellenmcdonagh