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DDG2P

Gene: CREBBP

Green List (high evidence)

CREBBP (CREB binding protein)
EnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 19 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders).
Created: 19 Nov 2018, 11:29 a.m.

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes CREBBP intellectual disability without typical RTS features for gene: CREBBP Publications for gene CREBBP were changed from 12114483; 12566391; 7630403; 11331617; 20684013 to 27311832

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CREBBP was added gene: CREBBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CREBBP were set to 12114483; 12566391; 7630403; 11331617; 20684013 Phenotypes for gene: CREBBP were set to RUBINSTEIN-TAYBI SYNDROME TYPE 1 180849