HACE1 - Gene browser | 3billion

HACE1

HACE1

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

HCNC Approved Symbol: HACE1 (HGNC:21033)
Genomic Coordinates: 6:104,728,094 - 104,859,919 (6q16.3)
Synonyms: KIAA1320
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the HACE1 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Encephalopathy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Epilepsy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Intellectual disability: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

HACE1 - Gene browser | 3billion