HUWE1 - Gene browser

HUWE1

HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1

HCNC Approved Symbol: HUWE1 (HGNC:30892)
Genomic Coordinates: 23:53,532,096 - 53,686,719 (Xp11.22)
Synonyms: Ib772, KIAA0312, UREB1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

24Patients

In total, 24 patients were diagnosed with a variant in the HUWE1 gene.

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

024
Patient count

Global developmental delay: 11 (45.8%)
Patient Count: 11 (45.8%)
% of total patients presenting each phenotype is shown in parentheses.
11 (45.8%)
Short stature: 5 (20.8%)
Patient Count: 5 (20.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (20.8%)
Intellectual disability: 5 (20.8%)
Patient Count: 5 (20.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (20.8%)
Microcephaly: 4 (16.7%)
Patient Count: 4 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (16.7%)
Brachydactyly: 3 (12.5%)
Patient Count: 3 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (12.5%)