PRG4

proteoglycan 4
OMIM: 604283, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PRG4 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.137
Latest signed off version: v3.2 (13 Feb 2020)

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

Green PRG4 in Fetal anomalies


Version 1.749
Latest signed off version: v1.92 (21 Aug 2020)

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

Green PRG4 in Severe Paediatric Disorders


Version 1.84

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250