Familial hypercholesterolaemia

Gene: LDLRAP1

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 = 13.

Created: 19 Feb 2016, 2:48 p.m.

Green List (high evidence)

Rare but important recessive cause of severe hypercholesterolaemia

Created: 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

Green List (high evidence)

recessive mode of inheritance

Created: 24 Nov 2015, 4:40 p.m.

Mode of inheritance
Other

Phenotypes
hypercholesterolaemia; elevated LDL-Cholesterol

Publications

• Molecular mechanisms of autosomal recessive hypercholesterolemia. Wilund KR, Yi M, Campagna F, Arca M, Zuliani G, Fellin R, Ho YK, Garcia JV, Hobbs HH, Cohen JC. Hum Mol Genet. 2002 Nov 15
• 11(24):3019-30. PMID: 12417523

Variants in this GENE are reported as part of current diagnostic practice