Mitochondrial disorders
Gene: DLD

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: 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: 0.159

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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

Panel version: 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Dihydrolipoamide dehydrogenase deficiency, OMIM:246900
Leigh syndrome

OMIM

238331

Clinvar variants

Variants in DLD

Penetrance

Complete

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 Dihydrolipoamide dehydrogenase deficiency, 246900; Leigh syndrome to Dihydrolipoamide dehydrogenase deficiency, OMIM:246900; Leigh syndrome

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to DLD. Panel: Mitochondrial disorders

10 Feb 2016, Gel status: 4