VPS33B - Gene browser

VPS33B

VPS33B late endosome and lysosome associated

HCNC Approved Symbol: VPS33B (HGNC:12712)
Genomic Coordinates: 15:90,998,416 - 91,022,621 (15q26.1)
Synonyms: FLJ14848
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

10Patients

In total, 10 patients were diagnosed with a variant in the VPS33B gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

010
Patient count

Cholestasis: 6 (60.0%)
Patient Count: 6 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (60.0%)
Congenital vertical talus: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Hepatomegaly: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Microcephaly: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Arthrogryposis: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)