VPS33B:Ensemblv115

VPS33B late endosome and lysosome associated
OMIM: 608552, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green VPS33B in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Green VPS33B in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085
Green VPS33B in Cholestasis Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Green VPS33B in Ichthyosis and Porokeratosis Level 2: Dermatological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Autosomal recessive keratoderma-ichthyosis-deafness
Green VPS33B in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome Tags founder
Green VPS33B in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085
Green VPS33B in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Autosomal recessive keratoderma-ichthyosis-deafness
Green VPS33B in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)
Green VPS33B in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Arthrogryposis renal dysfunction cholestasis syndrome
Green VPS33B in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Genomics England PanelApp Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Green VPS33B in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 MIM#208085 Cholestasis, progressive familial intrahepatic, 12 MIM#620010 Keratoderma-ichthyosis-deafness syndrome, autosomal recessive MIM#620009
Green VPS33B in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources KidGen_Tubulopathies v38.1.0 Expert Review Green KidGen_Tubulopathies v38.1.0 Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Green VPS33B in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085