Familial hypercholesterolaemia

Gene: LDLR

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.

Green List (high evidence)

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

Green List (high evidence)

most common cause of FH

Created: 24 Nov 2015, 4:37 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hypercholesterolaemia; elevated LDL-Cholesterol

Publications

• Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. Humphries SE, Whittall RA, Hubbart CS, Maplebeck S, Cooper JA, Soutar AK, Naoumova R, Thompson GR, Seed M, Durrington PN, Miller JP, Betteridge DJ, Neil HA
• Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee. J Med Genet. 2006 Dec
• 43(12):943-9. Erratum in: J Med Genet. 2010 Dec
• 47(12):862. J Med Genet. 2009 Dec
• 46(12):861. PMID: 17142622

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