Rebecca Foulger Added comment: Comment 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.
Eleanor Williams Phenotypes for gene: VPS33B were changed from Arthrogryposis, renal dysfunction, and cholestasis 1 208085 to Arthrogryposis, renal dysfunction, and cholestasis 1 208085