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

Gene: DLAT

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Created: 13 Aug 2019, 11:57 a.m. | Last Modified: 13 Aug 2019, 11:57 a.m.
Panel Version: 0.100
Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Created: 13 Aug 2019, 11:48 a.m. | Last Modified: 13 Aug 2019, 11:48 a.m.
Panel Version: 0.99
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Created: 23 Apr 2019, 1:19 p.m.

Panel version: 0.100

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

Red List (low evidence)

Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Pyruvate dehydrogenase E2 deficiency (includes episodic dystonia, choreoathetoid movements): onset in infancy
Created: 13 Aug 2019, 11:38 a.m. | Last Modified: 13 Aug 2019, 11:38 a.m.
Panel Version: 0.98
Suggested by Huw and Raquel - childhood onset
Created: 23 Apr 2019, 1:13 p.m.
Created: 23 Apr 2019, 1:13 p.m.

Panel version: 0.98

History Filter Activity

13 Aug 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to DLAT. Rating Changed from Green List (high evidence) to Red List (low evidence)

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DLAT.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to DLAT.

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: DLAT was added gene: DLAT was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLAT were set to 16049940; 19891062; 20022530 Phenotypes for gene: DLAT were set to episodic dystonia; pyruvate dehydrogenase deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase E2 deficiency 245348