Sudden death in young people
Gene: PPA2EnsemblGeneIds (GRCh38): ENSG00000138777
EnsemblGeneIds (GRCh37): ENSG00000138777
OMIM: 609988, Gene2Phenotype
PPA2 is in 12 panels
2 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Green on mitochondrial panel, but mutations in this gene could cause sudden death in young adults too, so to be kept separately on the sudden death panel.Created: 19 Dec 2016, 4:38 p.m.
Richard Scott (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Expert Review
- Phenotypes
-
- Unexpected cardiac arrest in infancy
- OMIM
- 609988
- Clinvar variants
- Variants in PPA2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Dilated and arrhythmogenic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Sudden death in young people
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Intellectual disability
- Congenital myopathy
History Filter Activity
panel promoted to version 1
Ellen Thomas (Genomics England Curator)This panel contains genes which aren't arrhythmic or metabolic causes of sudden death with normal post mortem.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)PPA2 was added to Sudden death in young peoplepanel. Source: Literature
Created
Richard Scott (Genomics England Curator)PPA2 was created by richardhywel
Added New Source
Richard Scott (Genomics England Curator)PPA2 was added to Sudden death in young peoplepanel. Sources: Expert Review