Genomics England
GMS Panels
Panels
Genes and Entities

PLOD3

procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
OMIM: 603066
PanelMode of inheritanceDetails
1 panel
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 4.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lysyl hydroxylase 3 deficiency, MIM#612394