Genomics England
GMS Panels
Panels
Genes and Entities

CREB3L3

cAMP responsive element binding protein 3 like 3
OMIM: 611998
PanelMode of inheritanceDetails
2 panels
Green
in Familial Chylomicronaemia Syndrome
R-numbers: R324
Signed-off version 3.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypertriglyceridemia 2, OMIM:619324, Hypertriglyceridemia (disease) MONDO:0005347
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypertriglyceridemia 2, OMIM:619324, Hypertriglyceridemia (disease) MONDO:0005347