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Mendeliome

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dihydrolipoamide dehydrogenase deficiency MIM#246900
OMIM
238331
Clinvar variants
Variants in DLD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DLD were changed from to Dihydrolipoamide dehydrogenase deficiency MIM#246900

16 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DLD were set to

16 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DLD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DLD was added gene: DLD was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DLD was set to Unknown