LDLR

low density lipoprotein receptor
OMIM: 606945, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green LDLR in Incidentalome


Version 0.318

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypercholesterolemia, familial, 1, MIM# 143890
Tags
  • cardiac
Green LDLR in Additional findings_Adult


Level 2: Screening
Version 0.167

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Hypercholesterolemia, familial, 1, MIM# 143890
Green LDLR in Dyslipidaemia


Level 2: Endocrine disorders
Version 0.42

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
    • Hypercholesterolemia
    Green LDLR in Familial hypercholesterolaemia


    Level 2: Cardiovascular disorders
    Version 1.0

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypercholesterolemia, familial, 1 143890
    Green LDLR 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
    • LDL cholesterol level QTL2/Hypercholesterolemia, familial
    Green LDLR in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Hypercholesterolemia
    Green LDLR in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • LDL cholesterol level QTL2/Hypercholesterolemia, familial
    Green LDLR in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Hypercholesterolemia, familial, 1, MIM# 143890
    Tags
    • treatable
    • metabolic
    Green LDLR 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
    • Hypercholesterolemia, familial, 1, MIM# 143890
    Green LDLR in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • LDL cholesterol level QTL2/Hypercholesterolemia, familial