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  2. Likely inborn error of metabolism
  3. LIPI
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Likely inborn error of metabolism

Gene: LIPI

Red List (low evidence)
LIPI (lipase I)
EnsemblGeneIds (GRCh38): ENSG00000188992
EnsemblGeneIds (GRCh37): ENSG00000188992
OMIM: 609252, Gene2Phenotype
LIPI is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Susceptibility locus
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Hypertriglyceridemia, susceptibility to}, 145750

Created: 23 Feb 2017, 5:14 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • {Hypertriglyceridemia, susceptibility to}, 145750
  • Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias)
OMIM
609252
Clinvar variants
Variants in LIPI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LIPI. Source London North GLH was added to LIPI.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: LIPI was added gene: LIPI was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LIPI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LIPI were set to 27604308 Phenotypes for gene: LIPI were set to {Hypertriglyceridemia, susceptibility to}, 145750; Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias)