Unexplained kidney failure in young people
Gene: VIPAS39Comment on list classification: Updated rating from Red to Green following review by Zornitza Stark, and curation of PMID:20190753. Sufficient (>3) cases of ARC being caused by VIPAS39 variants in PMID:20190753. Although only one paper, the patients are from multiple ethnicities and functional studies support the phenotype: VIPAS39 & VPS33B form a complex, and have roles in apical junction formation. Variants in VPS33B cause 'Arthrogryposis, renal dysfunction, and cholestasis 1, MIM:208085', and VPS33B is Green on this panel. VIPAS39-ARC also has a Confirmed Disease confidence in Gene2Phenotype.Created: 19 Mar 2020, 4:57 p.m. | Last Modified: 19 Mar 2020, 4:57 p.m.
Panel Version: 1.84
PMID:20190753: Cullinane et al., 2010 identify biallelic (homozygous or compound het) variants in 7 probands from consanguineous families with ARC (MIM:613404) from various ethnic backgrounds (Turkish, Croation, Israeli Arab, Italian). Variants include Q179X, T250ArgfsX279, R220X, Q291X, M1R. The paper does not further discuss the kidney phenotype.Created: 19 Mar 2020, 4:53 p.m. | Last Modified: 19 Mar 2020, 4:53 p.m.
Panel Version: 1.83
A syndromic disorder with a prominent renal phenotype renal tubular acidosis and Fanconi syndrome. We also have this gene as part of our renal tubulopathies panel.Created: 23 Jan 2020, 4:03 a.m. | Last Modified: 23 Jan 2020, 4:03 a.m.
Panel Version: 1.82
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: VIPAS39.
Tag for-review tag was added to gene: VIPAS39.
Gene: vipas39 has been classified as Green List (High Evidence).
Publications for gene: VIPAS39 were set to
Promoted to version 1 17th August 2016
VIPAS39 was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
VIPAS39 was created by sleigh