Genomics England

VPS33B

VPS33B, late endosome and lysosome associated

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 7.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Arthrogryposis, Renal Dysfunction, And Cholestasis 1, arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
Green in Bleeding and platelet disorders R-numbers: R90 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 208085 Arthrogryposis, renal dysfunction, and cholestasis 1
Green in Cholestasis R-numbers: R171 Signed-off version 3.0	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 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 319164
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Inherited bleeding disorders, Unexplained kidney failure in young people, CAKUT, ARC Syndrome (Other metabolic disorders), Arthrogryposis
Green in Nephrocalcinosis or nephrolithiasis Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R256 Signed-off version 4.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085
Green in Palmoplantar keratodermas R-numbers: R166 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Arthrogryposis, renal dysfunction, and cholestasis syndrome
Green in Renal tubulopathies Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R198 Signed-off version 4.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085