Gene Symbol:
CREBBP
HGNC:2348
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
16p13.3
Filters:

Definitive classifications

Rubinstein-Taybi syndrome
AD
02/09/2018
Evaluated
10/15/2020
Submitted
Rubinstein-Taybi syndrome due to CREBBP mutations
Submitted as: OMIM:180849
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Rubinstein-Taybi syndrome due to CREBBP mutations
Submitted as: OMIM:180849
AD
02/23/2018
Evaluated
03/02/2021
Submitted
Rubinstein-Taybi syndrome
AD
04/27/2018
Evaluated
04/21/2024
Submitted

Strong classifications

Rubinstein-Taybi syndrome due to CREBBP mutations
Submitted as: OMIM:180849
AD
01/25/2023
Evaluated
11/30/2023
Submitted
Menke-Hennekam syndrome 1
Submitted as: OMIM:618332
AD
09/12/2022
Evaluated
08/19/2023
Submitted
Menke-Hennekam syndrome 1
Submitted as: OMIM:618332
AD
01/18/2022
Evaluated
11/30/2023
Submitted

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