CEL

carboxyl ester lipase
OMIM: 114840, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
No list CEL in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.11

review Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maturity-onset diabetes of the young, type VIII, 609812
Tags
  • curated_removed
Red CEL in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maturity-onset diabetes of the young, type VIII, 609812
Green CEL in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maturity-onset diabetes of the young, type VIII, 609812
Green CEL in Monogenic diabetes


Version 2.58
Latest signed off version: v2.2 (25 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Maturity-onset diabetes of the young, type VIII, OMIM:609812
  • Diabetes and pancreatic exocrine dysfunction
Amber CEL in Pancreatitis


Version 3.4
Latest signed off version: v3.0 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • EUROPAC
Phenotypes
  • Hereditary Pancreatitis