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Inborn errors of metabolism

Gene: DLST

Red List (low evidence)

DLST (dihydrolipoamide S-succinyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000119689
EnsemblGeneIds (GRCh37): ENSG00000119689
OMIM: 126063, Gene2Phenotype
DLST is in 3 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on publications: - novel mRNA linked to decrease in the amounts of subunits of complexes I and IV of the mitochondrial respiratory chain;1943690
Created: 27 Feb 2017, 10:59 a.m.

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Not associated with a disorder in OMIM, Gene2Phenotype or Orphanet. Could not find evidence to support role in monogenic disorder. Several studies showing association with Alzheimer disease, others finding no association.
Created: 23 Feb 2017, 5:13 p.m.

Mode of inheritance
Unknown

Publications

  • 27604308
  • 12805207 - novel mRNA linked to decrease in the amounts of subunits of complexes I and IV of the mitochondrial respiratory chain
  • 1943690?

Shamima Rahman (UCL Institute of Child Health)

I don't know

Details

Mode of Inheritance
Unknown
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • No OMIM phenotype?Familial Alzheimer disease
OMIM
126063
Clinvar variants
Variants in DLST
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

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

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes No OMIM phenotype?Familial Alzheimer disease for gene: DLST

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: DLST was added gene: DLST was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: DLST was set to Unknown Publications for gene: DLST were set to 27604308; 12805207; 1943690