Severe hypertriglyceridaemia
Gene: CREB3L3

CREB3L3 (cAMP responsive element binding protein 3 like 3)
EnsemblGeneIds (GRCh38): ENSG00000060566
EnsemblGeneIds (GRCh37): ENSG00000060566
OMIM: 611998, Gene2Phenotype
CREB3L3 is in 3 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Not associated with phenotype in OMIM (last updated in 02/06/2015) or in Gen2Phen. At least three terminating variants have been identified in unrelated cases, together with supportive functional studies
Sources: Literature
Created: 9 Jul 2019, 1:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
monogenic dominant hypertriglyceridemia associated with CREB3L3

Publications

Created: 9 Jul 2019, 1:32 p.m.

Panel version: 1.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Literature

Phenotypes

Hypertriglyceridemia 2, OMIM:619324

OMIM

611998

Clinvar variants

Variants in CREB3L3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

21 Jun 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CREB3L3 were changed from monogenic dominant hypertriglyceridemia associated with CREB3L3 to Hypertriglyceridemia 2, OMIM:619324

9 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: creb3l3 has been classified as Green List (High Evidence).

9 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes