PACS1 - Gene browser

PACS1

phosphofurin acidic cluster sorting protein 1

HCNC Approved Symbol: PACS1 (HGNC:30032)
Genomic Coordinates: 11:66,070,272 - 66,244,744 (11q13.1-q13.2)
Synonyms: FLJ10209, KIAA1175
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

18Patients

In total, 18 patients were diagnosed with a variant in the PACS1 gene.

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

018
Patient count

Epilepsy: 7 (38.9%)
Patient Count: 7 (38.9%)
% of total patients presenting each phenotype is shown in parentheses.
7 (38.9%)
Global developmental delay: 6 (33.3%)
Patient Count: 6 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (33.3%)
Hypotonia: 4 (22.2%)
Patient Count: 4 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (22.2%)
Intellectual disability: 3 (16.7%)
Patient Count: 3 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (16.7%)
Short stature: 3 (16.7%)
Patient Count: 3 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (16.7%)