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Prepair 1000+

Gene: PRG4

Green List (high evidence)

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

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

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.
>10 unrelated families reported. Animal mouse model present.
Created: 25 Sep 2024, 10:35 a.m. | Last Modified: 25 Sep 2024, 10:35 a.m.
Panel Version: 1.322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
OMIM
604283
Clinvar variants
Variants in PRG4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: prg4 has been classified as Green List (High Evidence).

27 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: PRG4 were set to 10545950; 29397575

27 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: PRG4 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRG4 was added gene: PRG4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PRG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRG4 were set to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)