VIPAS39

VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
OMIM: 613401
PanelMode of inheritanceDetails
6 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis 2, 613404, arthrogryposis, renal dysfunction and cholestasis syndrome (ARC)
R-numbers: R90
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
613404 Arthrogryposis, renal dysfunction, and cholestasis 2
Green
in Cholestasis
R-numbers: R171
Signed-off version 1.21
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, Renal Dysfunction, and Cholestasis 2, ARC syndrome, Arthrogryposis-renal-cholestasis syndrome, Neonatal and Adult Cholestasis, Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 613404
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Inherited bleeding disorders, ARC Syndrome (Other metabolic disorders), Arthrogryposis