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Fetal anomalies

Gene: PPA2

Red List (low evidence)

PPA2 (pyrophosphatase (inorganic) 2)
EnsemblGeneIds (GRCh38): ENSG00000138777
EnsemblGeneIds (GRCh37): ENSG00000138777
OMIM: 609988, Gene2Phenotype
PPA2 is in 6 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

A series of 34 unreported individuals (all but one affected) from 20 families.

One case was diagnosed prenatally with cardiomyopathy.
Created: 7 Feb 2022, 12:40 a.m. | Last Modified: 7 Feb 2022, 12:40 a.m.
Panel Version: 0.3151

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
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

8 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppa2 has been classified as Red List (Low Evidence).

8 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PPA2 were changed from Sudden arrhythmic cardiac death after infectious or alcohol trigger to Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222

8 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PPA2 were set to

24 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPA2 was added gene: PPA2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPA2 were set to Sudden arrhythmic cardiac death after infectious or alcohol trigger