Dyslipidaemia
Gene: PNLIP
Comment on list classification: Appears to be a clinically benign metabolic conditionCreated: 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: LiteratureCreated: 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
Gene: pnlip has been classified as Amber List (Moderate Evidence).
Gene: pnlip has been classified as Amber List (Moderate Evidence).
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