Familial hypercholesterolaemia
Gene: LDLROn 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
Publications for gene: LDLR were set to PMID: 23433573; 25414277
This gene has been classified as Green List (High Evidence).
Mode of inheritance for LDLR was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
LDLR was added to Familial hypercholesterolaemiapanel. Source: UKGTN
LDLR was added to Familial hypercholesterolaemiapanel. Source: Emory Genetics Laboratory
Model of inheritance for gene LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
LDLR was added to Familial hypercholesterolaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
LDLR was added to Familial hypercholesterolaemiapanel. Source: Radboud University Medical Center, Nijmegen
LDLR was added to Familial hypercholesterolaemiapanel. Source: Radboud University Medical Center, Nijmegen
LDLR was added to Familial hypercholesterolaemiapanel. Sources: Eligibility statement prior genetic testing