PanelApp (staging)
  1. Genes and Genomic Entities
  2. CEL

CEL

carboxyl ester lipase
OMIM: 114840, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CEL in Mendeliome


Version 1.2302

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Maturity-onset diabetes of the young, type VIII

Green CEL in Maturity-onset Diabetes of the Young


Level 2: Endocrine disorders
Version 1.21

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Maturity-onset diabetes of the young, type VIII, 609812

Amber CEL in Monogenic Diabetes


Level 2: Endocrine disorders
Version 0.136

Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Diabetes and pancreatic exocrine dysfunction
    • Maturity-onset diabetes of the young, type VIII, 609812