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Severe hypertriglyceridaemia

Gene: CREB3L3

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • monogenic dominant hypertriglyceridemia associated with CREB3L3
OMIM
611998
Clinvar variants
Variants in CREB3L3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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

Sarah Leigh (Genomics England Curator)

gene: CREB3L3 was added gene: CREB3L3 was added to Severe hypertriglyceridaemia. Sources: Literature Mode of inheritance for gene: CREB3L3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CREB3L3 were set to 29954705; 21666694; 26427795; 22135386 Phenotypes for gene: CREB3L3 were set to monogenic dominant hypertriglyceridemia associated with CREB3L3 Review for gene: CREB3L3 was set to GREEN