This Panel is marked as Internal
Congenital muscular dystrophy and congenital myopathy
Gene: PPA2
PPA2 (pyrophosphatase (inorganic) 2)
EnsemblGeneIds (GRCh38): ENSG00000138777
EnsemblGeneIds (GRCh37): ENSG00000138777
OMIM: 609988, Gene2Phenotype
PPA2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000138777
EnsemblGeneIds (GRCh37): ENSG00000138777
OMIM: 609988, Gene2Phenotype
PPA2 is in 12 panels
1 review
Louise Daugherty (Genomics England Curator)
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 ReviewCreated: 4 Dec 2019, 1:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sudden cardiac failure, infantile, 617222
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Sudden cardiac failure, infantile, OMIM:617222
- OMIM
- 609988
- Clinvar variants
- Variants in PPA2
- Penetrance
- None
- Panels with this gene
-
- Dilated and arrhythmogenic cardiomyopathy
- Mitochondrial disorders
- Sudden death in young people
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
History Filter Activity
6 Feb 2023, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: PPA2 was added gene: PPA2 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review Amber,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, OMIM:617222