This Panel is marked as Retired
Dilated Cardiomyopathy (DCM)
Gene: NPPA
NPPA (natriuretic peptide A)
EnsemblGeneIds (GRCh38): ENSG00000175206
EnsemblGeneIds (GRCh37): ENSG00000175206
OMIM: 108780, Gene2Phenotype
NPPA is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000175206
EnsemblGeneIds (GRCh37): ENSG00000175206
OMIM: 108780, Gene2Phenotype
NPPA is in 1 panel
1 review
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, 2:24 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- 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
19 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)NPPA was added to Dilated Cardiomyopathy (DCM)panel. Sources: Literature
19 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NPPA was created by ellenmcdonagh