Likely inborn error of metabolism
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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 3:37 p.m. | Last Modified: 26 Sep 2024, 3:37 p.m.

Panel Version: 6.10

Comment on list classification: This gene should be added with green rating on this panel as this gene has been rated green on 'Familial chylomicronaemia syndrome (FCS)' panel (https://panelapp.genomicsengland.co.uk/panels/527/gene/CREB3L3/)
Created: 20 Jun 2024, 2:36 p.m. | Last Modified: 20 Jun 2024, 2:36 p.m.

Panel Version: 5.12

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

Created: 20 Jun 2024, 2:35 p.m.
Last Modified: 20 Jun 2024, 2:35 p.m.
Panel version: 6.10

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.
Copied from panel: Familial chylomicronaemia syndrome (FCS) v3.3

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.
Copied from panel: Familial chylomicronaemia syndrome (FCS) v3.3

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.
Copied from panel: Familial chylomicronaemia syndrome (FCS) v3.3

Details

Mode of Inheritance

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

OMIM

611998

Clinvar variants

Variants in CREB3L3

Penetrance

None

Publications

Panels with this gene