HECW2 - Gene browser

HECW2

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2

HCNC Approved Symbol: HECW2 (HGNC:29853)
Genomic Coordinates: 2:196,194,072 - 196,593,554 (2q32.3)
Synonyms: KIAA1301, NEDL2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

10Patients

In total, 10 patients were diagnosed with a variant in the HECW2 gene.

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

010
Patient count

Global developmental delay: 4 (40.0%)
Patient Count: 4 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (40.0%)
Epilepsy: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Hypotonia: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Generalized hypotonia: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Hypotonia, generalized: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)