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Prepair 1000+

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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic loss-of-function variants are associated with DLD deficiency. Onset usually in the neonatal period although later onset has been reported (OMIM). Highly variable severity, affected patients exhibit variable phenotypic and biochemical consequences (GeneReviews).

DLDD can manifest as a spectrum of three main phenotypes: classic DLDD phenotype, an early-onset neurological presentation; hepatic presentation; and rarely, a myopathic presentation (PMID: 39040027)
Created: 28 Oct 2024, 10:53 p.m. | Last Modified: 28 Oct 2024, 10:53 p.m.
Panel Version: 1.486

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dihydrolipoamide dehydrogenase deficiency (MIM#246900)

Publications

Created: 28 Oct 2024, 10:53 p.m.
Last Modified: 28 Oct 2024, 10:53 p.m.
Panel version: 1.486

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dihydrolipoamide dehydrogenase deficiency, 246900 (3)
OMIM
238331
Clinvar variants
Variants in DLD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Oct 2024, 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).

30 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DLD were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Dihydrolipoamide dehydrogenase deficiency, 246900 (3) for gene: DLD

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DLD was added gene: DLD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLD were set to Dihydrolipoamide dehydrogenase deficiency, 246900 (3)