Sudden cardiac death - previous panel
Gene: PPA2
On CGGL Royal Brompton diagnostic panel. Pathogenic variants detected in several SCD patients, both neonatal and adolescent. Good literature and functional evidence.
Sources: NHS GMS, Research, LiteratureCreated: 22 Sep 2019, 9:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM: 617222 Sudden cardiac failure, infantile; 617223 Sudden cardiac failure, alcohol-induced
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: PPA2 were changed from OMIM: 617222 Sudden cardiac failure, infantile; 617223 Sudden cardiac failure, alcohol-induced to Sudden cardiac failure, infantile, 617222; Sudden cardiac failure, alcohol-induced, 617223
gene: PPA2 was added gene: PPA2 was added to Sudden cardiac death. Sources: NHS GMS,Research,Literature Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPA2 were set to 27523598; 27523597 Phenotypes for gene: PPA2 were set to OMIM: 617222 Sudden cardiac failure, infantile; 617223 Sudden cardiac failure, alcohol-induced Review for gene: PPA2 was set to GREEN gene: PPA2 was marked as current diagnostic