EP300 - Gene browser

EP300

E1A binding protein p300

HCNC Approved Symbol: EP300 (HGNC:3373)
Genomic Coordinates: 22:41,092,592 - 41,180,077 (22q13.2)
Synonyms: p300, KAT3B
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

27Patients

In total, 27 patients were diagnosed with a variant in the EP300 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

027
Patient count

Global developmental delay: 10 (37.0%)
Patient Count: 10 (37.0%)
% of total patients presenting each phenotype is shown in parentheses.
10 (37.0%)
Microcephaly: 8 (29.6%)
Patient Count: 8 (29.6%)
% of total patients presenting each phenotype is shown in parentheses.
8 (29.6%)
Failure to thrive: 7 (25.9%)
Patient Count: 7 (25.9%)
% of total patients presenting each phenotype is shown in parentheses.
7 (25.9%)
Intellectual disability: 4 (14.8%)
Patient Count: 4 (14.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (14.8%)
Delayed speech and language development: 3 (11.1%)
Patient Count: 3 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (11.1%)