Viral resistance
Gene: LDLREnsemblGeneIds (GRCh38): ENSG00000130164
EnsemblGeneIds (GRCh37): ENSG00000130164
OMIM: 606945, Gene2Phenotype
LDLR is in 9 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted to Green based on review from Sarah Leigh (Genomics England Curator).Created: 11 May 2020, 7:48 a.m. | Last Modified: 11 May 2020, 7:48 a.m.
Panel Version: 0.38
Sarah Leigh (Genomics England Curator)
Hepatitis C virus (HCV) and other viruses can enter cells via LDLR mediated endocytosis (PMID 32268133). PMID 10535997 demonstrates that lack of detectable LDL receptor on cells results in resistance to infection by bovine viral diarrheal virus. Dengue virus genome replication and protein synthesis was significantly inhibited by the serine protease inhibitor AEBSF [4-(2-aminoethyl) benzene sulfonyl fluoride] that inhibits the expression of genes HMGCS, HMGCR & LDLR (PMID 31386864). A recent LDLR-null FH cell model has been developed, which is permisive to HCV infection, but virus production was significantly decreased compared with cells in which the LDLR activity had been corrected to normal levels (PMID 31358055).
Sources: LiteratureCreated: 5 May 2020, 8:21 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypercholesterolemia, familial, 1 143890; LDL cholesterol level QTL2 143890
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Hypercholesterolemia, familial, 1 143890
- LDL cholesterol level QTL2 143890
- OMIM
- 606945
- Clinvar variants
- Variants in LDLR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Familial hypercholesterolaemia
- Childhood onset dystonia, chorea or related movement disorder
- Additional findings health related - children
- COVID-19 research
- Additional findings health related - CNV analysis children
- Additional findings health related
- Familial hypercholesterolaemia (GMS)
- Likely inborn error of metabolism
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ldlr has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: LDLR was added gene: LDLR was added to Viral resistance. Sources: Literature Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LDLR were set to 10535997; 32268133; 31386864; 31358055 Phenotypes for gene: LDLR were set to Hypercholesterolemia, familial, 1 143890; LDL cholesterol level QTL2 143890 Review for gene: LDLR was set to GREEN