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HERC2

HECT and RLD domain containing E3 ubiquitin protein ligase 2

HCNC Approved Symbol
HERC2 (HGNC:4868)
Genomic Coordinates
15:28,111,040 - 28,322,179 (15q13.1)
Synonyms
jdf2, p528, D15F37S1
Disease Associations
This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the HERC2 gene.

Frequently observed phenotypes

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

2-3 or 4-5 toe syndactyly
 2 (100.0%)
5th finger clinodactyly
 2 (100.0%)
Adducted thumbs
 2 (100.0%)
Adhd
 2 (100.0%)
Brachycephaly
 2 (100.0%)
HERC2 - Gene browser | 3billion