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Prepair 1000+

Gene: DLAT

No list

DLAT (dihydrolipoamide S-acetyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000150768
EnsemblGeneIds (GRCh37): ENSG00000150768
OMIM: 608770, Gene2Phenotype
DLAT is in 10 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: Upgrade to green
Created: 13 Mar 2025, 2:44 a.m. | Last Modified: 13 Mar 2025, 2:44 a.m.
Panel Version: 1.1568

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Clinical presentation is in infancy. Pyruvate dehydrogenase E2 deficiency is a mitochondrial disorder, mostly affects the brain and leads to decreased ATP production and energy deficit. Can manifest as a syndrome of neurologic signs (congenital microcephaly, hypotonia, epilepsy, and/or ataxia), brain impacts (dysgenesis of the corpus callosum, Leigh syndrome) and metabolic abnormalities (increased plasma pyruvate, lactic acidemia, and/or metabolic acidosis).
Biochemical function, expression data, and model systems available.

1-4% of total PDE2D cases are due to variants in DLAT - associated with phenotype w/survival into childhood/adulthood, milder than other genes involved with condition.

PMID: 16049940 - 2 unrelated patients with Episodic dystonia. Hypotonia and ataxia, being less prominent. Neuroradiological evidence of discrete lesions restricted to the globus pallidus,
Male patient 1 - dystonic movements of the facial muscles and of his hands and feet.Developmental delay (12 words at age 4). Treatment has improved condition.
Male patient 2 - presented at 11 months of age with episodic dystonia (up to 3hrs duration). 8 years of age, developmental delay, cannot walk.
PMID: 29093066 - 2 siblings (both homozygous for c.470T>G; p.Val157Gly). Male sibling reported with intellectual disability and exercise-induced gait abnormalities. IQ of 44 at 8 years of age. Female sibling noted to have global delays with intellectual disability.
PMID: 20022530 - two sisters with early onset episodic dystonia and pyruvate dehydrogenase deficiency.

At least 6 cases, in 4 unrelated families as described in publications above. While reportedly milder than other presentations, appears severe presentation in absence of treatment. Other genes currently included: PDHA1, PDHB, PDP1.
Sources: Literature
Created: 13 Mar 2025, 2:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leigh syndrome MONDO:0009723; Pyruvate dehydrogenase E2 deficiency MIM#245348

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Leigh syndrome MONDO:0009723
  • Pyruvate dehydrogenase E2 deficiency MIM#245348
OMIM
608770
Clinvar variants
Variants in DLAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Mar 2025, Gel status: 0

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: dlat has been removed from the panel.

13 Mar 2025, Gel status: 0

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

Andrew Coventry (Victorian Clinical Genetics Services)

gene: DLAT was added gene: DLAT was added to Prepair 1000+. Sources: Literature Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLAT were set to 34138529; 16049940; 20022530; 29093066 Phenotypes for gene: DLAT were set to Leigh syndrome MONDO:0009723; Pyruvate dehydrogenase E2 deficiency MIM#245348 Review for gene: DLAT was set to GREEN