Likely inborn error of metabolism - targeted testing not possible
Gene: LDLRAP1Comment 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. At least 11 variants reported.Created: 15 Aug 2019, 1:41 p.m. | Last Modified: 15 Aug 2019, 1:41 p.m.
Panel Version: 1.167
Comment on phenotypes: Familial hypercholesterolaemia;Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias)Created: 15 Aug 2019, 1:36 p.m. | Last Modified: 15 Aug 2019, 1:36 p.m.
Panel Version: 1.165
Gene: ldlrap1 has been classified as Green List (High Evidence).
Publications for gene: LDLRAP1 were set to 27604308
Phenotypes for gene: LDLRAP1 were changed from Familial hypercholesterolaemia; Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias) to Hypercholesterolemia, familial, 4 603813
Source NHS GMS was added to LDLRAP1. Source London North GLH was added to LDLRAP1.
Sarah Leigh: Associated with relevant pheno
gene: LDLRAP1 was added gene: LDLRAP1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDLRAP1 were set to 27604308 Phenotypes for gene: LDLRAP1 were set to Familial hypercholesterolaemia; Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias)