Sudden cardiac death - previous panel
Gene: PPA2EnsemblGeneIds (GRCh38): ENSG00000138777
EnsemblGeneIds (GRCh37): ENSG00000138777
OMIM: 609988, Gene2Phenotype
PPA2 is in 12 panels
1 review
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
On CGGL Royal Brompton diagnostic panel. Pathogenic variants detected in several SCD patients, both neonatal and adolescent. Good literature and functional evidence.
Sources: NHS GMS, Research, LiteratureCreated: 22 Sep 2019, 9:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM: 617222 Sudden cardiac failure, infantile; 617223 Sudden cardiac failure, alcohol-induced
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Sudden cardiac failure, infantile, 617222
- Sudden cardiac failure, alcohol-induced, 617223
- OMIM
- 609988
- Clinvar variants
- Variants in PPA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Dilated and arrhythmogenic cardiomyopathy
- Mitochondrial disorders
- Sudden death in young people
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Undiagnosed metabolic disorders
- Intellectual disability
- DDG2P
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PPA2 were changed from OMIM: 617222 Sudden cardiac failure, infantile; 617223 Sudden cardiac failure, alcohol-induced to Sudden cardiac failure, infantile, 617222; Sudden cardiac failure, alcohol-induced, 617223
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)gene: PPA2 was added gene: PPA2 was added to Sudden cardiac death. Sources: NHS GMS,Research,Literature Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPA2 were set to 27523598; 27523597 Phenotypes for gene: PPA2 were set to OMIM: 617222 Sudden cardiac failure, infantile; 617223 Sudden cardiac failure, alcohol-induced Review for gene: PPA2 was set to GREEN gene: PPA2 was marked as current diagnostic