LIPI

lipase I
OMIM: 609252, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red LIPI in Familial chylomicronaemia syndrome (FCS)


Level 2: Lipids
Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • South West GLH
  • NHS GMS
Phenotypes
  • hypertriglyceridemia (disease) MONDO:0005347
Red LIPI in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias)
  • {Hypertriglyceridemia, susceptibility to}, 145750
Red LIPI in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • {Hypertriglyceridemia, susceptibility to}, 145750
    • Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias)