PLP1 - Gene browser

PLP1

proteolipid protein 1

HCNC Approved Symbol: PLP1 (HGNC:9086)
Genomic Coordinates: 23:103,776,506 - 103,792,619 (Xq22.2)
Synonyms: GPM6C, SPG2, PLP
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

11Patients

In total, 11 patients were diagnosed with a variant in the PLP1 gene.

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

011
Patient count

Global developmental delay: 5 (45.5%)
Patient Count: 5 (45.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (45.5%)
Nystagmus: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Seizures: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Strabismus: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Central hypotonia: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)