Genomics England

VIPAS39

VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404, arthrogryposis, renal dysfunction and cholestasis syndrome (ARC)
Green in Bleeding and platelet disorders R-numbers: R90 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 613404 Arthrogryposis, renal dysfunction, and cholestasis 2
Green in Cholestasis R-numbers: R171 Signed-off version 3.0	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 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 613404
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Inherited bleeding disorders, 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 2, OMIM:613404
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 2, OMIM:613404