UBE3A - Gene browser

UBE3A

ubiquitin protein ligase E3A

HCNC Approved Symbol: UBE3A (HGNC:12496)
Genomic Coordinates: 15:25,333,728 - 25,439,056 (15q11.2)
Synonyms: AS, ANCR, E6-AP, FLJ26981, EPVE6AP, HPVE6A
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

12Patients

In total, 12 patients were diagnosed with a variant in the UBE3A gene.

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

012
Patient count

Global developmental delay: 4 (33.3%)
Patient Count: 4 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (33.3%)
Epilepsy: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Intellectual disability: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Developmental delay: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Seizures: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)