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DLD

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Gene Facts External Data Attribution

HGNC Symbol
DLD (HGNC:2898) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
dihydrolipoamide dehydrogenase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
LAD, GCSL
Alias symbols
DLDH, E3, OGDC-E3
GenCC Classifications
Definitive4 Strong3 Supportive1 (Read more about GenCC Classifications)
%HI
5.26(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD v4.0 pLI score)
LOEUF
0.73(Read more about gnomAD v4.0 LOEUF score)
pLI and LOEUF metrics based on ENST00000205402 transcript
ACMG SF v3.2 Gene?
No
Cytoband
7q31.1
Genomic Coordinates
GRCh37/hg19: chr7:107531552-107561643 NCBI Ensembl UCSC
GRCh38/hg38: chr7:107891107-107921198 NCBI Ensembl UCSC
MANE Select Transcript
NM_000108.5 ENST00000205402.10 (Read more about MANE Select)
Function
Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched- chain amino acid-dehydrogenase complex) (PubMed:15712224, PubMed:16442803, PubMed:16770810, PubMed:17404228, PubMed:20160912, PubMed:20385101). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711). A fraction of the 2- oxoglutarate dehydrogenase complex also loca... (Source: Uniprot)
Group By Activity Group By Gene-Disease Pair

Gene-Disease Validity

Gene Disease MOI Expert Panel Classification Report & Date
DLD
pyruvate dehydrogenase E3 deficiency
MONDO:0009529
AR Aminoacidopathy GCEP Definitive 03/08/2019
Lumping and Splitting is the process by which ClinGen curation groups determine which disease entity they will use for evaluation. Groups review current disease and/or phenotype assertions (e.g. OMIM MIM phenotypes) and select the included and excluded phenotypes according to current guidelines. MIM phenotypes represented below are those that were available on the stated evaluation date.
Included MIM Phenotypes :
MIM:246900 - Dihydrolipoamide dehydrogenase deficiency
Excluded MIM Phenotypes :
No Excluded MIM Phenotypes were specified
Evaluation Date :
03/08/2019
Curation Type :
Curate a single gene-disease entity from this list (Read more about curation type)
Rationales :
No rationales were specified (Read more about curation type)
PMIDs :
No PMIDs were specified
Notes :
No Notes were specified
Expert Panel:
No Secondary Contributors were specified
History:
None
Other Stuff:
Lorem Epsum
DLD
Leigh syndrome
MONDO:0009723
AR Mitochondrial Diseases GCEP Definitive 03/11/2021
Lumping and Splitting is the process by which ClinGen curation groups determine which disease entity they will use for evaluation. Groups review current disease and/or phenotype assertions (e.g. OMIM MIM phenotypes) and select the included and excluded phenotypes according to current guidelines. MIM phenotypes represented below are those that were available on the stated evaluation date.
Included MIM Phenotypes :
No Included MIM Phenotypes were specified
Excluded MIM Phenotypes :
No Excluded MIM Phenotypes were specified
Evaluation Date :
03/11/2021
Curation Type :
Curate a single gene-disease entity not on this list (Read more about curation type)
Rationales :
No rationales were specified (Read more about curation type)
PMIDs :
No PMIDs were specified
Notes :
No Notes were specified
Expert Panel:
No Secondary Contributors were specified
History:
None
Other Stuff:
Lorem Epsum