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Aminoacidopathy

Gene: DLD

Green List (high evidence)
DLD (dihydrolipoamide dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000091140
EnsemblGeneIds (GRCh37): ENSG00000091140
OMIM: 238331, Gene2Phenotype
DLD is in 12 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Onset usually in the neonatal period although later onset has been reported. High mortality in infancy and early childhood (in some patients).

DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC).

Multiple individuals reports including in vitro functional analysis.
Created: 16 Feb 2022, 1:54 a.m. | Last Modified: 16 Feb 2022, 1:54 a.m.
Panel Version: 0.10992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dihydrolipoamide dehydrogenase deficiency MIM#246900

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Feb 2022, 1:54 a.m.
Last Modified: 16 Feb 2022, 1:54 a.m.
Panel version: Imported from Mendeliome panel version 0.10992

History Filter Activity

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: DLD were set to

2 Sep 2022, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DLD was added gene: DLD was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLD were set to pyruvate dehydrogenase E3 deficiency MONDO:0009529