Genomics England

pyrophosphatase (inorganic) 2

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sudden arrhythmic cardiac death after infectious or alcohol trigger
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sudden cardiac failure, infantile, 617222, Sudden cardiac failure, alcohol-induced, 617223
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.114	BIALLELIC, autosomal or pseudoautosomal	Phenotypes
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 3.44	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sudden cardiac failure, alcohol-induced, 617223, Sudden cardiac failure, infantile, 617222
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.69	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sudden cardiac failure, infantile, 617222, ?Sudden cardiac failure, alcohol-induced, 617223