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Refuted genes

Gene: LIPI

Red List (low evidence)

LIPI (lipase I)
EnsemblGeneIds (GRCh38): ENSG00000188992
EnsemblGeneIds (GRCh37): ENSG00000188992
OMIM: 609252, Gene2Phenotype
LIPI is in 4 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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
Created: 9 Jul 2019, 2:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
hypertriglyceridemia

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
Phenotypes
  • hypertriglyceridemia
OMIM
609252
Clinvar variants
Variants in LIPI
Penetrance
None
Panels with this gene

History Filter Activity

9 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Sarah Leigh (Genomics England Curator)

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