Neonatal cholestasis
Gene: VIPAS39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARC syndrome; arthrogryposis-renal-cholestasis syndrome
majority of pathogenic variants are nonsense but also some missenses; no patients with a genetic diagnosis in VIPAS39 in our cohort of ~150 patients tested.Created: 4 Jun 2018, 11:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
This panel has been subjected to extensive internal and external review.
Gene: vipas39 has been classified as Green List (High Evidence).
Phenotypes for gene: VIPAS39 were set to Neonatal and Adult Cholestasis; Arthrogryposis, renal dysfunction, and cholestasis 2, 613404; Arthrogryposis, Renal Dysfunction, and Cholestasis 2; ARC syndrome; Arthrogryposis-renal-cholestasis syndrome
Victorian Clinical Genetics Services was added to VIPAS39. Panel: Cholestasis
UKGTN was added to VIPAS39. Panel: Cholestasis Model of inheritance for gene VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene VIPAS39 were set to Neonatal and Adult Cholestasis, Arthrogryposis, renal dysfunction, and cholestasis 2, 613404, Arthrogryposis, Renal Dysfunction, and Cholestasis 2
Radboud University Medical Center, Nijmegen was added to VIPAS39. Panel: Cholestasis Phenotypes for gene VIPAS39 were set to Neonatal and Adult Cholestasis, Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
VIPAS39 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
VIPAS39 was created by Ellen McDonagh