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STRs in panel
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Inborn errors of metabolism

Gene: PPA2

Green List (high evidence)

PPA2 (pyrophosphatase (inorganic) 2)
EnsemblGeneIds (GRCh38): ENSG00000138777
EnsemblGeneIds (GRCh37): ENSG00000138777
OMIM: 609988, Gene2Phenotype
PPA2 is in 11 panels

1 review

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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

History Filter Activity

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PPA2 were changed from to Sudden cardiac failure, infantile, 617222; Sudden cardiac failure, alcohol-induced, 617223

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PPA2 was added gene: PPA2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPA2 were set to 27523598