PRG4

proteoglycan 4
OMIM: 604283, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PRG4 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.416

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, MIM# 208250

Green PRG4 in Mendeliome


Version 1.2302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, MIM# 208250

Green PRG4 in Short Long Bones with Advanced Carpal Bone Age


Level 2: Skeletal disorders
Version 0.1

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

Green PRG4 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
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)

Green PRG4 in Fetal anomalies


Version 1.313

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250

Green PRG4 in Prepair 1000+


Level 2: Screening
Version 1.1566

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)