1. Panels
  2. Paroxysmal Dyskinesia
  3. DLAT
STRs in panel
Prev Next
Regions in panel
Prev Next

Paroxysmal Dyskinesia

Gene: DLAT

Green List (high evidence)
DLAT (dihydrolipoamide S-acetyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000150768
EnsemblGeneIds (GRCh37): ENSG00000150768
OMIM: 608770, Gene2Phenotype
DLAT is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyruvate dehydrogenase E2 deficiency, MIM# 245348; Episodic dystonia (Exercise induced or without clear trigger)

Publications

Created: 22 Apr 2020, 7:36 a.m.
Last Modified: 22 Apr 2020, 7:36 a.m.
Panel version: 0.12

Eunice Chan (Royal Children's Hospital)

Also known as pyruvate dehydrogenase E2 deficiency
Sources: Literature
Created: 22 Apr 2020, 5:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Episodic dystonia (Exercise induced or without clear trigger)

Publications

  • McWilliam et al. 2010. Eur J Paediatr Neurol 14(4):349-53 (PMID: 2002
  • 2530)
  • Friedman J et al. 2017. Neurology 89: 2297-2298 (PMID:

Created: 22 Apr 2020, 5:03 a.m.

Panel version: 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pyruvate dehydrogenase E2 deficiency, MIM# 245348
  • Episodic dystonia (Exercise induced or without clear trigger)
OMIM
608770
Clinvar variants
Variants in DLAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlat has been classified as Green List (High Evidence).

22 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DLAT were changed from to Pyruvate dehydrogenase E2 deficiency, MIM# 245348; Episodic dystonia (Exercise induced or without clear trigger)

22 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DLAT were set to

22 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlat has been classified as Green List (High Evidence).

22 Apr 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance

Eunice Chan (Royal Children's Hospital)

gene: DLAT was added gene: DLAT was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal