This Panel is marked as Internal
Renal and urinary tract disorders
Gene: VIPAS39
VIPAS39 (VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog)
EnsemblGeneIds (GRCh38): ENSG00000151445
EnsemblGeneIds (GRCh37): ENSG00000151445
OMIM: 613401, Gene2Phenotype
VIPAS39 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000151445
EnsemblGeneIds (GRCh37): ENSG00000151445
OMIM: 613401, Gene2Phenotype
VIPAS39 is in 17 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Later-onset, not CAKUT.Created: 25 Apr 2016, 1:06 p.m.
Comment on list classification: Is a confirmed DD gene for Arthrogryposis, renal dysfunction, and cholestasis 2.Created: 22 Apr 2016, 10:56 a.m.
Helen Stuart (University of Manchester)
This gene is associated with tubulopathy rather than CAKUTCreated: 17 Oct 2015, 7:49 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis
Publications
- PMID:20190753
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
- OMIM
- 613401
- Clinvar variants
- Variants in VIPAS39
- Penetrance
- None
- Panels with this gene
-
- Nephrocalcinosis or nephrolithiasis
- Cholestasis
- Likely inborn error of metabolism
- CAKUT
- Bleeding and platelet disorders
- Renal tubulopathies
- Undiagnosed metabolic disorders
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- Ichthyosis and erythrokeratoderma
- Unexplained kidney failure in young people
- Intellectual disability
- Proteinuric renal disease
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
History Filter Activity
30 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Helen Stuart: This gene is associated with t
20 Dec 2018, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
20 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: VIPAS39 was added gene: VIPAS39 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, 613404