Genomics England
GMS Panels
Panels
Genes and Entities

DLAT

dihydrolipoamide S-acetyltransferase
OMIM: 608770
PanelMode of inheritanceDetails
6 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 3.56
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 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PYRUVATE DEHYDROGENASE E2 DEFICIENCY 245348
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.78
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 4.114
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase E2 deficiency, 245348
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.69
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