Genomics England

DLD

dihydrolipoamide dehydrogenase

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dihydrolipoamide dehydrogenase deficiency, 246900
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY 248600, LEIGH SYNDROME 256000
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dihydrolipoamide dehydrogenase deficiency, 246900, DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY
Green in Likely inborn error of metabolism 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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism), Leigh syndrome, Dihydrolipoamide dehydrogenase deficiency, 246900
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dihydrolipoamide dehydrogenase deficiency, 246900, Leigh syndrome
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900
Green in Pyruvate dehydrogenase (PDH) deficiency R-numbers: R316 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900