PRNP - Gene browser

PRNP

prion protein (Kanno blood group)

HCNC Approved Symbol: PRNP (HGNC:9449)
Genomic Coordinates: 20:4,686,456 - 4,701,588 (20p13)
Synonyms: CD230, PRP, AltPrP, PRIP, GSS, CJD
Disease Associations: This gene is associated with the following 7 diseases in OMIM.

Diagnosed Cases

11Patients

In total, 11 patients were diagnosed with a variant in the PRNP gene.

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

011
Patient count

Ataxia: 5 (45.5%)
Patient Count: 5 (45.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (45.5%)
Gait ataxia: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Parkinsonism: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Dementia: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Cerebellar ataxia: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)