PanelApp
  1. Genes and Genomic Entities
  2. LIPT2

LIPT2

lipoyl(octanoyl) transferase 2
OMIM: 617659, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green LIPT2 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668

Green LIPT2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668

    Green LIPT2 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1299

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM# 617668

    Amber LIPT2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668

    Red LIPT2 in Fetal anomalies


    Version 1.482

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668