Familial hypercholesterolaemia (GMS)
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
Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, autosomal recessive; Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia; Hypercholesterolemia, familial, 4, 603813 to Hypercholesterolemia, familial, 4, OMIM:603813
Phenotypes for gene: LDLRAP1 were changed from Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia; Hypercholesterolemia, familial, 4, 603813 to Hypercholesterolemia, familial, autosomal recessive; Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia; Hypercholesterolemia, familial, 4, 603813
gene: LDLRAP1 was added gene: LDLRAP1 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: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDLRAP1 were set to 12417523 Phenotypes for gene: LDLRAP1 were set to Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia; Hypercholesterolemia, familial, 4, 603813