LDLR

low density lipoprotein receptor
OMIM: 606945, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green LDLR in Additional findings health related Version 0.116	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 1.146	review	Not set	Sources OMIM
Green LDLR in Familial hypercholesterolaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.31	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 1.642	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 Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	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 (GMS) Level 2: Lipids Version 2.5 Latest signed off version: v2.0 (22 Mar 2023)	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, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green LDLR in Additional findings health related - children Version 1.1 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 1.1 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