Arthrogryposis
Gene: VIPAS39EnsemblGeneIds (GRCh38): ENSG00000151445
EnsemblGeneIds (GRCh37): ENSG00000151445
OMIM: 613401, Gene2Phenotype
VIPAS39 is in 17 panels
2 reviews
Julie Vogt (West Midlands Regional Genetics Service)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
arthrogryposis, renal dysfunction and cholestasis syndrome (ARC)
Publications
- PMID: 20190753
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Green review, and it is a confirmed DD gene for arthrogryposis.Created: 19 May 2016, 12:22 p.m.
Is a red gene on the CAKUT version 1 panel. No external reviews. Is a confirmed DD gene for ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2.Created: 3 May 2016, 1:55 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404
- ARC syndrome
- OMIM
- 613401
- Clinvar variants
- Variants in VIPAS39
- Penetrance
- Complete
- Publications
-
- PMID: 20190753
- Panels with this gene
-
- Arthrogryposis
- Inherited bleeding disorders
- Neonatal cholestasis
- Fetal anomalies
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- Nephrocalcinosis or nephrolithiasis
- Cholestasis
- Unexplained kidney failure in young people
- Bleeding and platelet disorders
- DDG2P
- Renal tubulopathies
- Likely inborn error of metabolism
- Ichthyosis and erythrokeratoderma
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2, 613404; arthrogryposis, renal dysfunction and cholestasis syndrome (ARC) to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404; ARC syndrome
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Added New Source
Ellen McDonagh (Genomics England Curator)VIPAS39 was added to Arthrogryposispanel. Source: Expert list
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, 613404; arthrogryposis, renal dysfunction and cholestasis syndrome (ARC)
Set publications
Ellen McDonagh (Genomics England Curator)Publications for VIPAS39 were set to PMID: 20190753
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for VIPAS39 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Eik Haraldsdottir (Genomics England)VIPAS39 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen