PNLIP:Ensemblv90

pancreatic lipase
OMIM: 246600, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber PNLIP in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 1.30

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Pancreatic lipase deficiency MIM#614338

Green PNLIP in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pancreatic lipase deficiency MIM#614338
  • disorders of lipid and lipoprotein metabolism

Green PNLIP in Dyslipidaemia


Level 2: Endocrine disorders
Version 0.46

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Pancreatic lipase deficiency MIM#614338
    • disorders of lipid and lipoprotein metabolism

    Amber PNLIP in Congenital Diarrhoea


    Level 2: Gastroenterological disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Amber
    Phenotypes
    • Pancreatic lipase deficiency MIM#614338

    Green PNLIP in Dyslipidaemia


    Level 2: Endocrine disorders
    Version 1.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Pancreatic lipase deficiency MIM#614338
    • disorders of lipid and lipoprotein metabolism