Genomics England

VIPAS39

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

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 10.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404, ARC syndrome
Green in Bleeding and platelet disorders R-numbers: R90 Signed-off version 4.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404, ARC syndrome
Green in Cholestasis R-numbers: R171 Signed-off version 4.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404, ARC syndrome
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 613404
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404, ARC syndrome
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404, ARC syndrome
Green in Nephrocalcinosis or nephrolithiasis Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R256 Signed-off version 6.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404
Green in Proteinuric renal disease Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R195 Signed-off version 6.13	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 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404