CREB3L3

cAMP responsive element binding protein 3 like 3
OMIM: 611998, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green CREB3L3 in Severe hypertriglyceridaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.18

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypertriglyceridemia 2, OMIM:619324
Green CREB3L3 in Familial chylomicronaemia syndrome (FCS)


Level 2: Lipids
Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • South West GLH
  • NHS GMS
Phenotypes
  • Hypertriglyceridemia 2, OMIM:619324
  • Hypertriglyceridemia (disease) MONDO:0005347
Green CREB3L3 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • South West GLH
    Phenotypes
    • Hypertriglyceridemia 2, OMIM:619324
    • Hypertriglyceridemia (disease) MONDO:0005347