PPA2

pyrophosphatase (inorganic) 2
OMIM: 609988
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sudden arrhythmic cardiac death after infectious or alcohol trigger
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sudden cardiac failure, infantile, 617222, Sudden cardiac failure, alcohol-induced, 617223
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sudden cardiac failure, alcohol-induced, 617223, Sudden cardiac failure, infantile, 617222
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sudden cardiac failure, infantile, 617222, ?Sudden cardiac failure, alcohol-induced, 617223