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  2. Familial chylomicronaemia syndrome (FCS)
  3. LMF1
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Familial chylomicronaemia syndrome (FCS)

Gene: LMF1

Green List (high evidence)
LMF1 (lipase maturation factor 1)
EnsemblGeneIds (GRCh38): ENSG00000103227
EnsemblGeneIds (GRCh37): ENSG00000103227
OMIM: 611761, Gene2Phenotype
LMF1 is in 4 panels

2 reviews

Maggie Williams (North Bristol NHS Trust)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Jul 2019, 4:03 p.m.
Last Modified: 4 Jul 2019, 4:03 p.m.
Panel version: 0.6

Sarah Leigh (Genomics England Curator)

PMID 17994020 and 19820022, both report homozygous terminating variants in severe hypertriglyceridemia, together with functional studies that showed significant reduction of LPL activity.
PMID 30885219: heterozygous LMF1 c.1024C > T (p.Arg342*; rs776584760) in a patient with Hypertriglyceridemia and acute pancreatitis (HTG-AP). PMID: 30420299 reports at least 2 likely pathogenic (terminating variants) heterozygous LMF1 variants from 13 variants in severe hypertriglyceridemia patients. PMID: 29910226 reports a compound heterozygous variants (c.257C>T, p.P86L & c.1184C>T,p.T395I) which segrates with hypertriglyceridemia in the family. However PMID: 22239554 reports that a number of missense variants don't have an effect.
Created: 4 Jul 2019, 2:13 p.m. | Last Modified: 4 Jul 2019, 2:13 p.m.
Panel Version: 0.3
Created: 4 Jul 2019, 2:13 p.m.
Last Modified: 4 Jul 2019, 2:13 p.m.
Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • NHS GMS
Phenotypes
  • Lipase deficiency, combined OMIM:246650
  • lipase deficiency, combined MONDO:0009527
OMIM
611761
Clinvar variants
Variants in LMF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: LMF1 were changed from Lipase deficiency, combined 246650 to Lipase deficiency, combined OMIM:246650; lipase deficiency, combined MONDO:0009527

4 Jul 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: LMF1 were set to 30885219

4 Jul 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: LMF1 were set to

4 Jul 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: LMF1 was added gene: LMF1 was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: LMF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMF1 were set to Lipase deficiency, combined 246650