Currently, this gene is not associated with any human disease in OMIM. However, the following publication(s) suggest a possible gene disease association.
Diagnosed Cases
5Patients
In total, 5 patients were diagnosed with a variant in the HEY2 gene.
Frequently observed phenotypes(Top 5 only)
(Top 5 only, Patient count*) *% of total patients presenting each phenotype is shown in parentheses.
05 Patient count
Ventricular septal defect
4 (80.0%)
Patient Count: 4 (80.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (80.0%)
Dextrocardia
3 (60.0%)
Patient Count: 3 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (60.0%)
Transposition of the great arteries
3 (60.0%)
Patient Count: 3 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (60.0%)
Asplenia
2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Situs inversus totalis
2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
Back to List
