Callosome
Gene: CREB1

CREB1 (cAMP responsive element binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000118260
EnsemblGeneIds (GRCh37): ENSG00000118260
OMIM: 123810, Gene2Phenotype
CREB1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

autopsy case of a newborn (26 weeks old), only the CREB1 gene was sequenced as the proband's phenotype was similar to that of CREB-KO mouse model. de novo missense was identified. In vitro functional expression studies in HEK293 cells showed that the mutant D116G protein had an inhibitory effect on transcriptional activity. no other reports found via pubmed
Created: 5 May 2022, 8:24 a.m. | Last Modified: 5 May 2022, 8:24 a.m.

Panel Version: 0.439

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Agenesis of corpus callosum, MONDO:0009022

Publications

22267179

Created: 5 May 2022, 8:24 a.m.
Last Modified: 5 May 2022, 8:24 a.m.
Panel version: 0.439

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Agenesis of corpus callosum, MONDO:0009022

OMIM

123810

Clinvar variants

Variants in CREB1

Penetrance

None

Publications

22267179

Panels with this gene