Familial hypercholesterolaemia

Gene: LDLR

Green List (high evidence)

LDLR (low density lipoprotein receptor)
EnsemblGeneIds (GRCh38): ENSG00000130164
EnsemblGeneIds (GRCh37): ENSG00000130164
OMIM: 606945, Gene2Phenotype
LDLR is in 12 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

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.

Ellen Thomas (Genomics England)

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

steve Humphries (UCL)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013)
  • Gene part of the 6-SNP LDL-C gene score calculation (Futema et al, 2015)
  • C3 Hypercholesterolemia, familial, 143890
  • LDL cholesterol level QTL2, 143890
  • Familial Hypercholesterolemia
  • Hypercholesterolemia
  • Familial Hypercholesterolaemia
OMIM
606945
Clinvar variants
Variants in LDLR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Jul 2020, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: LDLR were set to PMID: 23433573; 25414277

28 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for LDLR was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

7 Oct 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

LDLR was added to Familial hypercholesterolaemiapanel. Source: UKGTN

7 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

LDLR was added to Familial hypercholesterolaemiapanel. Source: Emory Genetics Laboratory

7 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

7 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

LDLR was added to Familial hypercholesterolaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

7 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LDLR was added to Familial hypercholesterolaemiapanel. Source: Radboud University Medical Center, Nijmegen

7 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LDLR was added to Familial hypercholesterolaemiapanel. Source: Radboud University Medical Center, Nijmegen

7 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LDLR was added to Familial hypercholesterolaemiapanel. Sources: Eligibility statement prior genetic testing