VPS33B

VPS33B, late endosome and lysosome associated
OMIM: 608552
PanelMode of inheritanceDetails
8 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, Renal Dysfunction, And Cholestasis 1, arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
R-numbers: R90
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
208085 Arthrogryposis, renal dysfunction, and cholestasis 1
Green
in Cholestasis
R-numbers: R171
Signed-off version 1.21
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
arthrogryposis-renal-cholestasis syndrome, Arthrogryposis, renal dysfunction, and cholestasis 1, 208085, Arthrogryposis, Renal Dysfunction, and Cholestasis 1, Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome, ARC syndrome, Neonatal and Adult Cholestasis, Arthrogryposis, Renal Dysfunction, And Cholestasis 1
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 1 319164
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
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, Unexplained kidney failure in young people, CAKUT, ARC Syndrome (Other metabolic disorders), Arthrogryposis
R-numbers: R166
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis syndrome
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome, Arthrogryposis, renal dysfunction, and cholestasis 1, Arthrogryposis, renal dysfunction, and cholestasis 1, 208085, Arthrogryposis, renal dysfunction, and cholestasis