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Mendeliome v0.6296 PNLIP Bryony Thompson Marked gene: PNLIP as ready
Mendeliome v0.6296 PNLIP Bryony Thompson Gene: pnlip has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6296 PNLIP Bryony Thompson Classified gene: PNLIP as Amber List (moderate evidence)
Mendeliome v0.6296 PNLIP Bryony Thompson Added comment: Comment on list classification: Appears to be a clinically benign metabolic condition
Mendeliome v0.6296 PNLIP Bryony Thompson Gene: pnlip has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6295 PNLIP Bryony Thompson gene: PNLIP was added
gene: PNLIP was added to Mendeliome. 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
Added comment: 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