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Undiagnosed metabolic disorders


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

Pancreatic lipase deficiency 614338



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Literature
  • Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism)
  • Pancreatic lipase deficiency 614338
Clinvar variants
Variants in PNLIP
Panels with this gene

History Filter Activity

27 Feb 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

24 Feb 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

PNLIP was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Red Model of inheritance for gene PNLIP was set to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2016, Gel status: 0


Sarah Leigh (Genomics England Curator)

PNLIP was created by sleigh

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

PNLIP was added to Undiagnosed metabolic disorderspanel. Sources: Literature