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| Familial chylomicronaemia syndrome (FCS) v1.9 | APOE | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial chylomicronaemia syndrome (FCS) v1.8 | APOE | Sarah Leigh Added comment: Comment on phenotypes: APOE variants have also been associated with Sea-blue histiocyte disease 269600 & Alzheimer disease-2 104310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial chylomicronaemia syndrome (FCS) v1.8 | APOE | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial chylomicronaemia syndrome (FCS) v0.6 | APOE | Maggie Williams reviewed gene: APOE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial chylomicronaemia syndrome (FCS) v0.2 | APOE |
Sarah Leigh 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 |
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