PANK2 - Gene browser

PANK2

pantothenate kinase 2

HCNC Approved Symbol: PANK2 (HGNC:15894)
Genomic Coordinates: 20:3,888,781 - 3,929,887 (20p13)
Synonyms: HSS, FLJ11729, PKAN, HARP, C20orf48, NBIA1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

9Patients

In total, 9 patients were diagnosed with a variant in the PANK2 gene.

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

09
Patient count

Eye of the tiger anomaly of globus pallidus: 4 (44.4%)
Patient Count: 4 (44.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (44.4%)
Dystonia: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Global developmental delay: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Generalized dystonia: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Neurodevelopmental regression: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)