PanelApp (staging)
  1. Genes and Genomic Entities
  2. LPIN1

LPIN1

lipin 1
OMIM: 605518, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green LPIN1 in Fatty Acid Oxidation Defects


Level 2: Metabolic disorders
Version 1.14

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
    Phenotypes
    • Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200

    Green LPIN1 in Mendeliome


    Version 1.2302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200

    Amber LPIN1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.42

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Amber
    • Expert Review
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Myoglobinuria, acute recurrent, autosomal recessive (MIM#268200)

    Green LPIN1 in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • Myoglobinuria, acute recurrent, autosomal recessive 268200

    Green LPIN1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)

    Green LPIN1 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Myoglobinuria, acute recurrent, autosomal recessive, MIM#268200