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  2. Likely inborn error of metabolism
  3. DLD
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Likely inborn error of metabolism

Gene: DLD

Green List (high evidence)
DLD (dihydrolipoamide dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000091140
EnsemblGeneIds (GRCh37): ENSG00000091140
OMIM: 238331, Gene2Phenotype
DLD is in 11 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 5 Nov 2017, 2:38 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 10 Feb 2016, 12:08 p.m.
Comment on list classification: Both reviewers agree this should be promoted from red to green. Confirmed DD gene.
Created: 10 Feb 2016, 12:08 p.m.
Created: 10 Feb 2016, 12:08 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.159

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:31 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Dihydrolipoamide dehydrogenase deficiency, OMIM:246900
  • Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism)
  • Leigh syndrome
OMIM
238331
Clinvar variants
Variants in DLD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DLD were changed from Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism); Leigh syndrome; Dihydrolipoamide dehydrogenase deficiency, 246900 to Dihydrolipoamide dehydrogenase deficiency, OMIM:246900; Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism); Leigh syndrome

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to DLD. Source London North GLH was added to DLD.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism); Leigh syndrome; Dihydrolipoamide dehydrogenase deficiency, 246900 for gene: DLD Publications for gene DLD were changed from to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: DLD was added gene: DLD was added to Inborn errors of 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 Leigh syndrome; Dihydrolipoamide dehydrogenase deficiency, 246900