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Inborn errors of metabolism

Gene: PNLIP

Red List (low evidence)

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

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
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

Ellen McDonagh (Genomics England Curator)

gene: PNLIP was added gene: PNLIP was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PNLIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNLIP were set to 27604308 Phenotypes for gene: PNLIP were set to Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism); Pancreatic lipase deficiency 614338