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| Familial chylomicronaemia syndrome (FCS) v1.14 | LPL | Sarah Leigh Phenotypes for gene: LPL were changed from Lipoprotein lipase deficiency 238600; Combined hyperlipidemia, familial 144250 to Lipoprotein lipase deficiency OMIM:238600; familial lipoprotein lipase deficiency MONDO:0009387; Combined hyperlipidemia, familial OMIM:144250; hyperlipidemia, familial combined, LPL related MONDO:0007759 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial chylomicronaemia syndrome (FCS) v0.6 | LPL | Maggie Williams reviewed gene: LPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial chylomicronaemia syndrome (FCS) v0.2 | LPL |
Sarah Leigh gene: LPL was added gene: LPL was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: LPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency 238600; Combined hyperlipidemia, familial 144250 |
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