CEL

carboxyl ester lipase
OMIM: 114840, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CEL in Genomic screening in children: BabyScreen+


Level 2: Screening
Version 0.99

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

Green CEL in Mendeliome


Version 2.362

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