LDLR

low density lipoprotein receptor
OMIM: 606945, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green LDLR in Additional findings health related


Version 0.110

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial hypercholesterolaemia
  • Adult and child

Red LDLR in COVID-19 research


Level 2: Viral research
Version 1.77

review Not set
Sources
  • OMIM

Green LDLR in Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.27

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013)
  • Gene part of the 6-SNP LDL-C gene score calculation (Futema et al, 2015)
  • C3 Hypercholesterolemia, familial, 143890
  • LDL cholesterol level QTL2, 143890
  • Familial Hypercholesterolemia
  • Hypercholesterolemia
  • Familial Hypercholesterolaemia

Green LDLR in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.457

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypercholesterolemia, familial, 1 143890
  • LDL cholesterol level QTL2 143890

Green LDLR in Inborn errors of metabolism


Version 2.131
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Hypercholesterolemia, familial, 1 143890
    • LDL cholesterol level QTL2 143890

    Green LDLR in Familial hypercholesterolaemia - targeted panel


    Version 1.9
    Latest signed off version: v1.2 (17 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hypercholesterolemia, familial, 1, OMIM:143890

    Red LDLR in Childhood onset dystonia or chorea or related movement disorder


    Version 1.100
    Latest signed off version: v1.58 (6 Oct 2020)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green LDLR in Severe Paediatric Disorders


    Version 1.76

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • LDL cholesterol level QTL2, 143890
    • Hypercholesterolemia, familial, 1, 143890

    Green LDLR in Viral resistance


    Level 2: Viral research
    Version 0.63

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypercholesterolemia, familial, 1 143890
    • LDL cholesterol level QTL2 143890

    Green LDLR in Additional findings health related - children


    Version 1.0

    Component of the following Super Panels:

  • Additional findings health related - adults
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Adult and child
    • Familial hypercholesterolaemia

    Green LDLR in Additional findings health related - CNV analysis children


    Version 1.0

    Component of the following Super Panels:

  • Additional findings health related - CNV analysis adults
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Familial hypercholesterolaemia
    • Adult and child