Familial hypercholesterolaemia (GMS)
Gene: LDLRComment on phenotypes: This gene is also associated with LDL cholesterol level QTL2, 143890Created: 2 Mar 2021, 1:25 p.m. | Last Modified: 2 Mar 2021, 1:25 p.m.
Panel Version: 1.6
Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013, PMID:23433573); Gene part of the 6-SNP LDL-C gene score calculation (Futema et al, 2015, PMID:25414277).Created: 8 Oct 2019, 8:18 p.m. | Last Modified: 8 Oct 2019, 8:18 p.m.
Panel Version: 0.3
On the Inherited Cardiac Condition Genes panel for Familial Hypercholesterolaemia reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1517.
Created: 19 Feb 2016, 2:48 p.m.
Loss-of-function and some missense are relevant here, but there are lots of missense variants which aren't pathogenic.Created: 2 Dec 2015, 10:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
most common cause of FHCreated: 24 Nov 2015, 4:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hypercholesterolaemia; elevated LDL-Cholesterol
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: LDLR were changed from LDL cholesterol level QTL2, 143890; Familial Hypercholesterolaemia; Hypercholesterolemia; Familial Hypercholesterolemia; Hypercholesterolemia, familial, 1, 143890; C3 Hypercholesterolemia, familial to Hypercholesterolemia, familial, 1, OMIM:143890
Phenotypes for gene: LDLR were changed from LDL cholesterol level QTL2, 143890; Familial Hypercholesterolaemia; Hypercholesterolemia; Familial Hypercholesterolemia; Hypercholesterolemia, familial, 1, 143890 to LDL cholesterol level QTL2, 143890; Familial Hypercholesterolaemia; Hypercholesterolemia; Familial Hypercholesterolemia; Hypercholesterolemia, familial, 1, 143890; C3 Hypercholesterolemia, familial
gene: LDLR was added gene: LDLR was added to Familial hypercholesterolaemia - targeted panel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LDLR were set to 17142622; 25414277; 23433573 Phenotypes for gene: LDLR were set to LDL cholesterol level QTL2, 143890; Familial Hypercholesterolaemia; Hypercholesterolemia; Familial Hypercholesterolemia; Hypercholesterolemia, familial, 1, 143890