Likely inborn error of metabolism
Gene: PNLIP

PNLIP (pancreatic lipase)
EnsemblGeneIds (GRCh38): ENSG00000175535
EnsemblGeneIds (GRCh37): ENSG00000175535
OMIM: 246600, Gene2Phenotype
PNLIP is in 2 panels

1 review

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Not associated with phenotype in OMIM or G2P. One variant reported in two siblings, together with supporting in vitro data (PMID 25862608), including protein folding information. Also polymorphisms associated with metabolic traits.
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pancreatic lipase deficiency 614338

Publications

Created: 23 Feb 2017, 5:15 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

London North GLH
NHS GMS
Expert Review Red

Phenotypes

Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism)
Pancreatic lipase deficiency 614338

OMIM

246600

Clinvar variants

Variants in PNLIP

Penetrance

None

Publications

27604308

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 PNLIP. Source London North GLH was added to PNLIP.

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