Congenital myopathy

Gene: PPA2

Amber List (moderate evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off.
Created: 4 Dec 2019, 1:35 p.m. | Last Modified: 4 Dec 2019, 1:35 p.m.
Panel Version: 1.212
gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off. Recessive variants are associated with sudden cardiac death in infants and young adults. Skeletal muscle from one mildly myopathic infant displayed nemaline bodies Guimier A, Gordon CT, Godard F, et al. : Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. Am J Hum Genet. 2016;99(3):666–73. and
Kennedy H, Haack TB, Hartill V, et al. : Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. Am J Hum Genet. 2016;99(3):674–82.
Sources: Expert Review
Created: 4 Dec 2019, 1:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sudden cardiac failure, infantile, 617222

History Filter Activity

4 Dec 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PPA2.

4 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ppa2 has been classified as Amber List (Moderate Evidence).

4 Dec 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: PPA2 was added gene: PPA2 was added to Congenital myopathy. Sources: Expert Review Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPA2 were set to Sudden cardiac failure, infantile, 617222 Review for gene: PPA2 was set to AMBER