PanelApp
  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

Green CEL in Mendeliome


Version 2.636

4 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Maturity-onset diabetes of the young, type VIII
Tags
  • technically challenging

Green CEL in Monogenic Diabetes


Level 2: Endocrine disorders
Version 1.26

Component of the following Super Panels:

  • Metabolic Disorders Superpanel

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

    Green CEL in Genomic screening in children: BabyScreen+


    Level 2: Screening
    Version 1.0

    		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
    Tags
    • for review
    • treatable
    • endocrine
    • technically challenging