1. Genes and Genomic Entities
  2. LMF1

LMF1

lipase maturation factor 1
OMIM: 611761, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green LMF1 in Severe hypertriglyceridaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.17

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Lipase deficiency, combined, 246650
Red LMF1 in Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.30

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
Green LMF1 in Familial chylomicronaemia syndrome (FCS)


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • NHS GMS
Phenotypes
  • Lipase deficiency, combined OMIM:246650
  • lipase deficiency, combined MONDO:0009527
Amber LMF1 in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Lipase deficiency, combined OMIM:246650
    • lipase deficiency, combined MONDO:0009527
    Tags
    • Q4_23_promote_green