DLST

dihydrolipoamide S-succinyltransferase
OMIM: 126063, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
No list DLST in Inherited phaeochromocytoma and paraganglioma excluding NF1


Level 2: Endocrinology
Version 3.10
Latest signed off version: v3.0 (7 Aug 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Expert Review
Phenotypes
  • Paragangliomas 7, OMIM:618475
  • Paragangliomas 7, MONDO:0032771
Tags
  • curated_removed
Red DLST in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review Unknown
Sources
  • Expert Review Red
  • Literature
Red DLST in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review Unknown
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • No OMIM phenotype?Familial Alzheimer disease
    Red DLST in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • No OMIM phenotype?Familial Alzheimer disease