LPL

lipoprotein lipase
OMIM: 609708, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green LPL in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined hyperlipidemia, familial, MIM# 144250
  • Lipoprotein lipase deficiency, MIM# 238600

Green LPL in Dyslipidaemia


Level 2: Endocrine disorders
Version 0.41

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Lipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familial

    Green LPL in Familial hypercholesterolaemia


    Level 2: Cardiovascular disorders
    Version 0.27

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Combined hyperlipidemia, familial, MIM# 144250

    Green LPL in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Lipoprotein lipase deficiency, 238600 (3)

    Green LPL in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Lipoprotein lipase deficiency, 238600 (3)

    Green LPL in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lipoprotein lipase deficiency, MIM# 238600
    Tags
    • treatable
    • metabolic

    Green LPL in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Lipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familial

    Green LPL in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Lipoprotein lipase deficiency, 238600 (3)