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This Panel is marked as Internal

Newborns main panel
Gene: LMF1

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

PMID: 22239554 - 8 cases. PMID: 36689289 5 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Lipase deficiency, combined

OMIM

Clinvar variants

Variants in LMF1

Penetrance

None

Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Lipase deficiency, combined for gene: LMF1

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Lipase deficiency, combined for gene: LMF1

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to LMF1. Added phenotypes Lipase deficiency, combined for gene: LMF1 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Lipase deficiency, combined for gene: LMF1

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: LMF1 was added gene: LMF1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: LMF1 was set to BIALLELIC, autosomal or pseudoautosomal