Arthrogryposis
Gene: VIPAS39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
arthrogryposis, renal dysfunction and cholestasis syndrome (ARC)
Publications
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.
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.
VIPAS39 was added to Arthrogryposispanel. Source: Expert list
This gene has been classified as Green List (High Evidence).
Phenotypes for VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, 613404; arthrogryposis, renal dysfunction and cholestasis syndrome (ARC)
Publications for VIPAS39 were set to PMID: 20190753
This gene has been classified as Green List (High Evidence).
Mode of inheritance for VIPAS39 was changed to BIALLELIC, autosomal or pseudoautosomal
VIPAS39 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen