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Cardiomyopathies - including childhood onset

Gene: PPA2

Green List (high evidence)

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

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
Phenotypes
  • Sudden cardiac failure, alcohol-induced, 617223
  • Sudden cardiac failure, infantile, 617222
OMIM
609988
Clinvar variants
Variants in PPA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PPA2.

4 Sep 2019, Gel status: 3

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 Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPA2 were set to 27523598 Phenotypes for gene: PPA2 were set to Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222