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Refuted genes v0.13 | LIPI |
Sarah Leigh gene: LIPI was added gene: LIPI was added to Refuted genes. Sources: Expert list Mode of inheritance for gene: LIPI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LIPI were set to hypertriglyceridemia Review for gene: LIPI was set to RED Added comment: From Lipoprotein lipase deficiency gene list (South West GLH). But recent review by Ada Hamosh (2019) noted that the C55Y (C76Y) variant was present in 1,382 of 282,752 alleles and in 8 homozygotes in the gnomAD database (June 25, 2019). Sources: Expert list |