PLOD2 - Gene browser

PLOD2

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

HCNC Approved Symbol: PLOD2 (HGNC:9082)
Genomic Coordinates: 3:146,069,440 - 146,161,184 (3q24)
Synonyms: LH2, TLH
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the PLOD2 gene.

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

04
Patient count

Fractures at birth: 3 (75.0%)
Patient Count: 3 (75.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (75.0%)
Knee contracture: 3 (75.0%)
Patient Count: 3 (75.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (75.0%)
Multiple fractures: 3 (75.0%)
Patient Count: 3 (75.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (75.0%)
Adducted thumb: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Breech presentation at birth: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)