Familial chylomicronaemia syndrome (FCS)
Gene: APOEComment on phenotypes: APOE variants have also been associated with Sea-blue histiocyte disease 269600 & Alzheimer disease-2 104310Created: 4 Mar 2021, 3:54 p.m. | Last Modified: 4 Mar 2021, 3:54 p.m.
Panel Version: 1.8
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: APOE were changed from Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310 to Hyperlipoproteinemia, type III OMIM:617347; hyperlipoproteinemia type 3 MONDO:0018473; Lipoprotein glomerulopathy OMIM:611771; lipoprotein glomerulopathy MONDO:0012725
Phenotypes for gene: APOE were changed from Sea-blue histiocyte disease 269600; Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310 to Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310
gene: APOE was added gene: APOE was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: APOE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: APOE were set to Sea-blue histiocyte disease 269600; Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310