PPA2

pyrophosphatase (inorganic) 2
OMIM: 609988
PanelMode of inheritanceDetails
5 panels
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sudden cardiac failure, alcohol-induced, 617223, Sudden cardiac failure, infantile, 617222
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sudden arrhythmic cardiac death after infectious or alcohol trigger
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sudden cardiac failure, infantile, 617222, Sudden cardiac failure, alcohol-induced, 617223
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sudden cardiac failure, infantile, 617222, ?Sudden cardiac failure, alcohol-induced, 617223