1. Genes and Genomic Entities
  2. LIPT2

LIPT2

lipoyl(octanoyl) transferase 2
OMIM: 617659, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green LIPT2 in Pyruvate dehydrogenase (PDH) deficiency


Level 2: Mitochondrial
Version 1.38
Latest signed off version: v1.2 (17 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities OMIM:617668
  • encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities MONDO:0060562
Green LIPT2 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668
    Green LIPT2 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.20
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668
    Green LIPT2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, OMIM:617668
    Green LIPT2 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
    Amber LIPT2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 617668
    Tags
    • watchlist
    Amber LIPT2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Expert Review Amber
    • Literature
    Phenotypes
    • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668
    Tags
    • watchlist
    Green LIPT2 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Other
    Phenotypes
    • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668