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 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dihydrolipoamide dehydrogenase deficiency, OMIM:246900
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	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 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dihydrolipoamide dehydrogenase deficiency, OMIM:246900
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 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dihydrolipoamide dehydrogenase deficiency, OMIM:246900, Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism), Leigh syndrome
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dihydrolipoamide dehydrogenase deficiency, OMIM:246900, Leigh syndrome
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dihydrolipoamide dehydrogenase deficiency, OMIM:246900
Green in Pyruvate dehydrogenase (PDH) deficiency R-numbers: R316 Signed-off version 1.39	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dihydrolipoamide dehydrogenase deficiency, OMIM:246900, pyruvate dehydrogenase E3 deficiency MONDO:0009529