PLOD2

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
OMIM: 601865, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green PLOD2 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.225

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Green PLOD2 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.416

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PLOD2 in Mendeliome


Version 1.2302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bruck syndrome 2, MIM# 609220

Green PLOD2 in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders
Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bruck syndrome 2, MIM# 609220

Green PLOD2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert
  • NHS GMS
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Bruck syndrome 2 609220

Green PLOD2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bruck syndrome 2, 609220 (3)

Red PLOD2 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Bruck syndrome

Green PLOD2 in Fetal anomalies


Version 1.313

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Bruck syndrome 2 , OMIM #609220

Green PLOD2 in Prepair 1000+


Level 2: Screening
Version 1.1566

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bruck syndrome 2, MIM#609220

Red PLOD2 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Bruck syndrome 2, MIM# 609220

Green PLOD2 in Transplant Co-Morbidity Superpanel


Level 2: Screening
Version 0.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bruck syndrome 2, MIM# 609220