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  2. Childhood onset dystonia, chorea or related movement disorder
  3. DLAT
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Childhood onset dystonia, chorea or related movement disorder

Gene: DLAT

Green List (high evidence)
DLAT (dihydrolipoamide S-acetyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000150768
EnsemblGeneIds (GRCh37): ENSG00000150768
OMIM: 608770, Gene2Phenotype
DLAT is in 13 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

History Filter Activity

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to DLAT. Mode of inheritance for gene DLAT was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Pyruvate dehydrogenase E2 deficiency 245348; Dystonia for gene: DLAT Publications for gene DLAT were changed from to 16049940; 19891062

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: DLAT was added gene: DLAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: DLAT was set to