Dystonia - complex
Gene: DLAT
DLAT (dihydrolipoamide S-acetyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000150768
EnsemblGeneIds (GRCh37): ENSG00000150768
OMIM: 608770, Gene2Phenotype
DLAT is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000150768
EnsemblGeneIds (GRCh37): ENSG00000150768
OMIM: 608770, Gene2Phenotype
DLAT is in 9 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
>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