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Familial hypercholesterolaemia (GMS)

Gene: LDLR

Green List (high evidence)
LDLR (low density lipoprotein receptor)
EnsemblGeneIds (GRCh38): ENSG00000130164
EnsemblGeneIds (GRCh37): ENSG00000130164
OMIM: 606945, Gene2Phenotype
LDLR is in 9 panels

5 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: This gene is also associated with LDL cholesterol level QTL2, 143890
Created: 2 Mar 2021, 1:25 p.m. | Last Modified: 2 Mar 2021, 1:25 p.m.
Panel Version: 1.6
Created: 2 Mar 2021, 1:25 p.m.
Last Modified: 2 Mar 2021, 1:25 p.m.
Panel version: 1.6

Rebecca Foulger (Genomics England curator)

Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013, PMID:23433573); Gene part of the 6-SNP LDL-C gene score calculation (Futema et al, 2015, PMID:25414277).
Created: 8 Oct 2019, 8:18 p.m. | Last Modified: 8 Oct 2019, 8:18 p.m.
Panel Version: 0.3
Created: 8 Oct 2019, 8:18 p.m.
Last Modified: 8 Oct 2019, 8:18 p.m.
Panel version: 0.3

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

Panel version: Imported from Familial hypercholesterolaemia panel version 0.71

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

Created: 2 Dec 2015, 10:08 a.m.

Panel version: Imported from Familial hypercholesterolaemia panel version 0

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

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

Panel version: Imported from Familial hypercholesterolaemia panel version 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypercholesterolemia, familial, 1, OMIM:143890
OMIM
606945
Clinvar variants
Variants in LDLR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: LDLR were changed from LDL cholesterol level QTL2, 143890; Familial Hypercholesterolaemia; Hypercholesterolemia; Familial Hypercholesterolemia; Hypercholesterolemia, familial, 1, 143890; C3 Hypercholesterolemia, familial to Hypercholesterolemia, familial, 1, OMIM:143890

8 Oct 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: LDLR were changed from LDL cholesterol level QTL2, 143890; Familial Hypercholesterolaemia; Hypercholesterolemia; Familial Hypercholesterolemia; Hypercholesterolemia, familial, 1, 143890 to LDL cholesterol level QTL2, 143890; Familial Hypercholesterolaemia; Hypercholesterolemia; Familial Hypercholesterolemia; Hypercholesterolemia, familial, 1, 143890; C3 Hypercholesterolemia, familial

7 Oct 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: LDLR was added gene: LDLR 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: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LDLR were set to 17142622; 25414277; 23433573 Phenotypes for gene: LDLR were set to LDL cholesterol level QTL2, 143890; Familial Hypercholesterolaemia; Hypercholesterolemia; Familial Hypercholesterolemia; Hypercholesterolemia, familial, 1, 143890