Cardiomyopathy_Paediatric
Gene: PPA2EnsemblGeneIds (GRCh38): ENSG00000138777
EnsemblGeneIds (GRCh37): ENSG00000138777
OMIM: 609988, Gene2Phenotype
PPA2 is in 6 panels
1 review
Chirag Patel (Genetic Health Queensland)
A series of 34 unreported individuals (all but one affected) from 20 families. Twenty three died before the age of 2 years while 5 died between 14 and 16 years. Within these 28 cases, 15 died of sudden cardiac arrest and 13 of acute heart failure. One case was diagnosed prenatally with cardiomyopathy. Four teenagers drank alcohol before sudden cardiac arrest. Progressive neurological signs were observed in 2/6 surviving individuals. They report 12 novel pathogenic PPA2 variants and 10 previously published variants. For 11 variants, recombinant PPA2 enzyme activities were significantly decreased and sensitive to temperature, compared to wild-type PPA2 enzyme activity.Created: 5 Jan 2022, 6:43 a.m. | Last Modified: 5 Jan 2022, 6:43 a.m.
Panel Version: 0.118
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sudden cardiac failure, infantile, OMM # 617222
Publications
- PMID: 34400813
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- London South GLH
- NHS GMS
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ppa2 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PPA2 were set to 27523598
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PPA2 was added gene: PPA2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green 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