Gene Symbol:
EP300
HGNC:3373
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
22q13.2
Filters:

Ambry Genetics classifications

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Submitted as: OMIM:613684
AD
02/23/2018
Evaluated
03/02/2021
Submitted

ClinGen classifications

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
AD
05/20/2022
Evaluated
04/21/2024
Submitted

Illumina classifications

Rubinstein-Taybi syndrome
AD
11/07/2019
Evaluated
10/15/2020
Submitted

Invitae classifications

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Submitted as: OMIM:613684
AD
07/06/2023
Evaluated
11/30/2023
Submitted

G2P classifications

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Submitted as: OMIM:613684
AD
07/22/2015
Evaluated
09/11/2023
Submitted

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