Groopman et al 2019 - Genes with diagnostic variants
Gene: CREBBP

CREBBP (CREB binding protein)
EnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 18 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: CREBBP; Inheritance: AD; Clinical diagnosis: Nephropathy of unknown origin; Congenital or cystic renal disease; Glomerulopathy; Genetic diagnosis: Rubinstein-Taybi syndrome 1; OMIM phenotype MIM no.:180849; Number of cases: 3
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.

Panel Version: 0.4

Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Expert review green
Literature

Phenotypes

Congenital or cystic renal disease
Rubinstein-Taybi syndrome 1
Nephropathy of unknown origin
MIM 180849
Glomerulopathy

OMIM

600140

Clinvar variants

Variants in CREBBP

Penetrance

None

Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to CREBBP. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: CREBBP was added gene: CREBBP was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CREBBP were set to Congenital or cystic renal disease; Rubinstein-Taybi syndrome 1; Nephropathy of unknown origin; MIM 180849; Glomerulopathy

Groopman et al 2019 - Genes with diagnostic variants Gene: CREBBP