VPS33B

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

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green VPS33B in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.424 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Green VPS33B in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.58	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085
Green VPS33B in Cholestasis Level 2: Gastroenterological disorders Version 1.4 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Green VPS33B in Ichthyosis Level 2: Dermatological disorders Version 1.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autosomal recessive keratoderma-ichthyosis-deafness
Green VPS33B in Mendeliome Version 1.3098	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Green VPS33B in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.136	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome Tags founder
Green VPS33B in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.22 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085
Green VPS33B in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.222	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autosomal recessive keratoderma-ichthyosis-deafness
Green VPS33B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.294	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM #208085
Green VPS33B in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)
Green VPS33B in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Arthrogryposis renal dysfunction cholestasis syndrome
Green VPS33B in Fetal anomalies Version 1.413	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Green VPS33B in Prepair 1000+ Level 2: Screening Version 2.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 MIM#208085 Cholestasis, progressive familial intrahepatic, 12 MIM#620010 Keratoderma-ichthyosis-deafness syndrome, autosomal recessive MIM#620009
Red VPS33B in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.137	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Arthrogryposis, renal dysfunction, and cholestasis MIM#208085
Green VPS33B in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.20 Component of the following Super Panels: Kidneyome_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 Expert Review Green KidGen_Tubulopathies v38.1.0 Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Green VPS33B in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.19	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085