Arthrogryposis
Gene: PRG4

PRG4 (proteoglycan 4)
EnsemblGeneIds (GRCh38): ENSG00000116690
EnsemblGeneIds (GRCh37): ENSG00000116690
OMIM: 604283, Gene2Phenotype
PRG4 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The camptodactyly-arthropathy-coxa vara-pericarditis syndrome is an autosomal recessive condition characterized by the association of congenital or early-onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. Progressive coxa vara deformity and/or noninflammatory pericardial or pleural effusions are found in some. More than 10 unrelated families reported.
Created: 18 Apr 2022, 9:23 a.m. | Last Modified: 18 Apr 2022, 9:23 a.m.

Panel Version: 0.334

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, MIM# 208250

Publications

Created: 18 Apr 2022, 9:23 a.m.
Last Modified: 18 Apr 2022, 9:23 a.m.
Panel version: 0.334

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, MIM# 208250

OMIM

604283

Clinvar variants

Variants in PRG4

Penetrance

None

Publications

Panels with this gene