Possible mitochondrial disorder - nuclear genes
Gene: PPA2EnsemblGeneIds (GRCh38): ENSG00000138777
EnsemblGeneIds (GRCh37): ENSG00000138777
OMIM: 609988, Gene2Phenotype
PPA2 is in 12 panels
2 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sudden cardiac failure, infantile, 617222; ?Sudden cardiac failure, alcohol-induced, 617223
Publications
Richard Scott (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- 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
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PPA2 was added gene: PPA2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPA2 were set to 27523597 Phenotypes for gene: PPA2 were set to Sudden cardiac failure, infantile, 617222; ?Sudden cardiac failure, alcohol-induced, 617223