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  3. PNLIP
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Dyslipidaemia

Gene: PNLIP

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Appears to be a clinically benign metabolic condition
Created: 9 Feb 2021, 1:08 a.m. | Last Modified: 9 Feb 2021, 1:08 a.m.
Panel Version: 0.20
4 cases from 2 unrelated families, with supporting biochemical assays in patient cells and cellular-based assays. The cases have decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health.
Sources: Literature
Created: 9 Feb 2021, 1:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pancreatic lipase deficiency MIM#614338; disorders of lipid and lipoprotein metabolism

Publications

Created: 9 Feb 2021, 1:08 a.m.

Panel version: 0.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pancreatic lipase deficiency MIM#614338
  • disorders of lipid and lipoprotein metabolism
OMIM
246600
Clinvar variants
Variants in PNLIP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pnlip has been classified as Amber List (Moderate Evidence).

9 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pnlip has been classified as Amber List (Moderate Evidence).

9 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PNLIP was added gene: PNLIP was added to Dyslipidaemia. Sources: Literature Mode of inheritance for gene: PNLIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNLIP were set to 31977950; 25862608; 24262094; 27604308 Phenotypes for gene: PNLIP were set to Pancreatic lipase deficiency MIM#614338; disorders of lipid and lipoprotein metabolism Review for gene: PNLIP was set to GREEN