VPS33B

VPS33B, late endosome and lysosome associated
OMIM: 608552, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green VPS33B in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Neonatal and Adult Cholestasis Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 Arthrogryposis, Renal Dysfunction, And Cholestasis 1 Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome ARC syndrome arthrogryposis-renal-cholestasis syndrome
Green VPS33B in Nephrocalcinosis or nephrolithiasis Level 2: Renal Version 5.5 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085
Green VPS33B in Cholestasis Level 2: Gastrohepatology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS 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 VPS33B in Palmoplantar keratodermas Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis syndrome
Green VPS33B in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.182	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 2)
Green VPS33B in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.124	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 208085
Green VPS33B in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Arthrogryposis, Renal Dysfunction, And Cholestasis 1 arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
Red VPS33B in Congenital myopathy Level 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London South GLH Expert Review Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085
Green VPS33B in Bleeding and platelet disorders Level 2: Haematology Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 208085 Arthrogryposis, renal dysfunction, and cholestasis 1
Red VPS33B in CAKUT Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 1.181	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 Arthrogryposis, renal dysfunction, and cholestasis
Green VPS33B in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ARC Syndrome (Other metabolic disorders) Arthrogryposis CAKUT Inherited bleeding disorders Unexplained kidney failure in young people
Green VPS33B in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Inherited bleeding disorders Unexplained kidney failure in young people CAKUT ARC Syndrome (Other metabolic disorders) Arthrogryposis
Green VPS33B in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
Green VPS33B in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 319164
Green VPS33B in Renal tubulopathies Level 2: Renal Version 5.11 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085
Amber VPS33B in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
Red VPS33B in Proteinuric renal disease Level 2: Renal Version 5.7 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	Not set	Sources NHS GMS Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 #208085
Red VPS33B in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH