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Possible mitochondrial disorder - nuclear genes

Gene: PPA2

Green List (high evidence)

PPA2 (pyrophosphatase (inorganic) 2)
EnsemblGeneIds (GRCh38): ENSG00000138777
EnsemblGeneIds (GRCh37): ENSG00000138777
OMIM: 609988, Gene2Phenotype
PPA2 is in 12 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

History Filter Activity

4 Feb 2019, Gel status: 4

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