UFSP2 - Gene browser

UFSP2

UFM1 specific peptidase 2

HCNC Approved Symbol: UFSP2 (HGNC:25640)
Genomic Coordinates: 4:185,399,537 - 185,425,964 (4q35.1)
Synonyms: FLJ11200, C4orf20
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the UFSP2 gene.

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

04
Patient count

Atonic seizures: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Eeg with generalized spikes: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Epileptic encephalopathy: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Febrile seizures: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Generalized myoclonic seizures: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)