Genomics England

MDH2

malate dehydrogenase 2

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epileptic encephalopathy, early infantile, 51
Green in Inherited phaeochromocytoma and paraganglioma excluding NF1 R-numbers: R223 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PPGL
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epileptic encephalopathy, early infantile, 51, 617339
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 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epileptic encephalopathy, early infantile, 51 617339
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epileptic encephalopathy, early infantile, 51 617339
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epileptic encephalopathy, early infantile, 51, 617339