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Inborn errors of metabolism

Gene: LDLR

Green List (high evidence)

LDLR (low density lipoprotein receptor)
EnsemblGeneIds (GRCh38): ENSG00000130164
EnsemblGeneIds (GRCh37): ENSG00000130164
OMIM: 606945, Gene2Phenotype
LDLR is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Over 2000 variants reported.
Created: 15 Aug 2019, 1:21 p.m. | Last Modified: 15 Aug 2019, 1:21 p.m.
Panel Version: 1.162
Comment on phenotypes: Familial hypercholesterolaemia;Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias)
Created: 15 Aug 2019, 1:20 p.m. | Last Modified: 15 Aug 2019, 1:20 p.m.
Panel Version: 1.161

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypercholesterolemia, familial, 1 143890
  • LDL cholesterol level QTL2 143890
OMIM
606945
Clinvar variants
Variants in LDLR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Aug 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: LDLR were set to 27604308; 27821657

15 Aug 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: LDLR were set to 27604308

15 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ldlr has been classified as Green List (High Evidence).

15 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: LDLR were changed from Familial hypercholesterolaemia; Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias) to Hypercholesterolemia, familial, 1 143890; LDL cholesterol level QTL2 143890

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LDLR. Source London North GLH was added to LDLR.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: LDLR was added gene: LDLR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LDLR were set to 27604308 Phenotypes for gene: LDLR were set to Familial hypercholesterolaemia; Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias)