Genomics England

malate dehydrogenase 2

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Genetic epilepsy syndromes R-numbers: R59 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epileptic encephalopathy, early infantile, 51
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epileptic encephalopathy, early infantile, 51 617339
Green in Inherited phaeochromocytoma and paraganglioma excluding NF1 R-numbers: R223 Signed-off version 2.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PPGL
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epileptic encephalopathy, early infantile, 51, 617339
Green in Mitochondrial disorders Component of the following Super Panels: - White matter disorders - childhood onset Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epileptic encephalopathy, early infantile, 51 617339
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epileptic encephalopathy, early infantile, 51, 617339