Genomics England

dihydrolipoamide S-acetyltransferase

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pyruvate dehydrogenase E2 deficiency 245348, Dystonia
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PYRUVATE DEHYDROGENASE E2 DEFICIENCY 245348
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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism), Pyruvate dehydrogenase E2 deficiency, 245348
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pyruvate dehydrogenase E2 deficiency, 245348
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348
Green in Pyruvate dehydrogenase (PDH) deficiency R-numbers: R316 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348