Genomics England

DLAT

dihydrolipoamide S-acetyltransferase

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PYRUVATE DEHYDROGENASE E2 DEFICIENCY 245348
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pyruvate dehydrogenase E2 deficiency 245348, Dystonia
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	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: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pyruvate dehydrogenase E2 deficiency, 245348
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348
Green in Pyruvate dehydrogenase (PDH) deficiency R-numbers: R316 Signed-off version 1.41	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PYRUVATE DEHYDROGENASE E2 DEFICIENCY OMIM:245348, pyruvate dehydrogenase E2 deficiency MONDO:0009502