Likely inborn error of metabolism - targeted testing not possible
Gene: LDLRComment 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
Publications for gene: LDLR were set to 27604308; 27821657
Publications for gene: LDLR were set to 27604308
Gene: ldlr has been classified as Green List (High Evidence).
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
Source NHS GMS was added to LDLR. Source London North GLH was added to LDLR.
Sarah Leigh: Associated with relevant pheno
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)