PMP22 - Gene browser

PMP22

peripheral myelin protein 22

HCNC Approved Symbol: PMP22 (HGNC:9118)
Genomic Coordinates: 17:15,229,779 - 15,265,326 (17p12)
Synonyms: HNPP, GAS3, Sp110, HMSNIA, CMT1A
Disease Associations: This gene is associated with the following 6 diseases in OMIM.

Diagnosed Cases

20Patients

In total, 20 patients were diagnosed with a variant in the PMP22 gene.

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

020
Patient count

Hypotonia: 5 (25.0%)
Patient Count: 5 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
5 (25.0%)
Peripheral neuropathy: 3 (15.0%)
Patient Count: 3 (15.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (15.0%)
Muscle weakness: 3 (15.0%)
Patient Count: 3 (15.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (15.0%)
Motor delay: 2 (10.0%)
Patient Count: 2 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (10.0%)
Sensory neuropathy: 2 (10.0%)
Patient Count: 2 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (10.0%)