Dystonia - complex

Gene: DLAT

Green List (high evidence)

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

>3 unrelated individuals reported with pyruvate dehydrogenase E2 deficiency along with other clinical features including ID, episodic dystonia and abnormalities on brain imaging.
Created: 9 Dec 2024, 3:03 a.m. | Last Modified: 9 Dec 2024, 3:03 a.m.
Panel Version: 0.254

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
pyruvate dehydrogenase E2 deficiency MONDO:0009502

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Pyruvate dehydrogenase E2 deficiency 245348
  • Dystonia
OMIM
608770
Clinvar variants
Variants in DLAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Dec 2024, 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).

10 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DLAT were set to

27 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DLAT was added gene: DLAT was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLAT were set to Pyruvate dehydrogenase E2 deficiency 245348; Dystonia