Familial hypercholesterolaemia
Gene: LDLRAP1On 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 = 13.Created: 19 Feb 2016, 2:48 p.m.
Rare but important recessive cause of severe hypercholesterolaemiaCreated: 13 Dec 2015, 9:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
recessive mode of inheritanceCreated: 24 Nov 2015, 4:40 p.m.
Mode of inheritance
Other
Phenotypes
hypercholesterolaemia; elevated LDL-Cholesterol
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
LDLRAP1 was added to Familial hypercholesterolaemiapanel. Source: UKGTN
LDLRAP1 was added to Familial hypercholesterolaemiapanel. Source: Emory Genetics Laboratory
Model of inheritance for gene LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
LDLRAP1 was added to Familial hypercholesterolaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
LDLRAP1 was added to Familial hypercholesterolaemiapanel. Sources: Radboud University Medical Center, Nijmegen