Sarah Leigh Phenotypes for gene: LDLRAP1 were changed from Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias); Familial hypercholesterolaemia to Hypercholesterolemia, familial, 4 603813
Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Over 2000 variants reported.
Sarah Leigh Added comment: Comment on phenotypes: Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias);Familial hypercholesterolaemia
Sarah Leigh Phenotypes for gene: LDLR were changed from Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias); Familial hypercholesterolaemia to Hypercholesterolemia, familial, 1 143890; LDL cholesterol level QTL2 143890