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 0.427 Component of the following Super Panels: Neuromuscular Superpanel	1 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 1.62	1 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 1.5 Component of the following Super Panels: Liverome Superpanel	1 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	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autosomal recessive keratoderma-ichthyosis-deafness
Green VPS33B in Mendeliome Version 1.3499	1 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	2 reviews	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 1.23 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 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 1.238	1 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 1.398	1 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	0 reviews	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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Arthrogryposis renal dysfunction cholestasis syndrome
Green VPS33B in Fetal anomalies Version 1.465	2 reviews	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 2.14	1 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 1.140	1 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 1.22 Component of the following Super Panels: Kidneyome_SuperPanel	1 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 Level 2: Screening Version 0.20	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085