PLOD1

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
OMIM: 153454
PanelMode of inheritanceDetails
5 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, type VI 225400
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM 225400
R-numbers: R101
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos Syndrome, Kyphoscoliotic Form, Ehlers Danlos syndrome, type VI, 225400, Kyphoscoliotic EDS, kEDS-PLOD1, Ocular-Scoliotic EDS
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM
R-numbers: R125
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
kyphoscoliotic EDS, Ehlers-Danlos syndrome, type VI, 225400