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| Familial chylomicronaemia syndrome (FCS) v1.11 | GPD1 | Sarah Leigh Phenotypes for gene: GPD1 were changed from Hypertriglyceridemia, transient infantile 614480 to Hypertriglyceridemia, transient infantile OMIM:614480; transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial chylomicronaemia syndrome (FCS) v0.6 | GPD1 | Maggie Williams reviewed gene: GPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial chylomicronaemia syndrome (FCS) v0.2 | GPD1 |
Sarah Leigh gene: GPD1 was added gene: GPD1 was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: GPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPD1 were set to Hypertriglyceridemia, transient infantile 614480 |
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