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  2. Familial chylomicronaemia syndrome (FCS)
  3. CREB3L3
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Familial chylomicronaemia syndrome (FCS)

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: CREB3L3 is now associated with a relevantly phenotype in OMIM - Hypertriglyceridemia 2, MIM# 619324
Created: 21 Jun 2021, 3:16 p.m. | Last Modified: 21 Jun 2021, 3:16 p.m.
Panel Version: 1.16
Created: 21 Jun 2021, 3:16 p.m.
Last Modified: 21 Jun 2021, 3:16 p.m.
Panel version: 1.16

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: There is not an OMIM or Mondo term for monogenic dominant hypertriglyceridemia associated with CREB3L3, so MONDO:0005347 has been used as a broader term
Created: 4 Mar 2021, 4:20 p.m. | Last Modified: 4 Mar 2021, 4:20 p.m.
Panel Version: 1.10
Created: 4 Mar 2021, 4:20 p.m.
Last Modified: 4 Mar 2021, 4:20 p.m.
Panel version: 1.10

Maggie Williams (North Bristol NHS Trust)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Jul 2019, 4:03 p.m.
Last Modified: 4 Jul 2019, 4:03 p.m.
Panel version: 0.6

Details

Mode of Inheritance
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
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 hypertriglyceridemia (disease) MONDO:0005347 to Hypertriglyceridemia 2, OMIM:619324; Hypertriglyceridemia (disease) MONDO:0005347

4 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CREB3L3 were changed from monogenic dominant hypertriglyceridemia associated with CREB3L3 to hypertriglyceridemia (disease) MONDO:0005347

4 Jul 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CREB3L3 were set to 29954705; 21666694; 26427795

4 Jul 2019, Gel status: 3

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 Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green 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 Phenotypes for gene: CREB3L3 were set to monogenic dominant hypertriglyceridemia associated with CREB3L3