PRG4

proteoglycan 4
OMIM: 604283, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green PRG4 in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250
Green PRG4 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250