VPS13B - Gene browser

VPS13B

vacuolar protein sorting 13 homolog B

HCNC Approved Symbol: VPS13B (HGNC:2183)
Genomic Coordinates: 8:99,013,274 - 99,877,580 (8q22.2)
Synonyms: BLTP5B, CHS1, COH1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

35Patients

In total, 35 patients were diagnosed with a variant in the VPS13B gene.

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

035
Patient count

Microcephaly: 12 (34.3%)
Patient Count: 12 (34.3%)
% of total patients presenting each phenotype is shown in parentheses.
12 (34.3%)
Global developmental delay: 8 (22.9%)
Patient Count: 8 (22.9%)
% of total patients presenting each phenotype is shown in parentheses.
8 (22.9%)
Intellectual disability: 6 (17.1%)
Patient Count: 6 (17.1%)
% of total patients presenting each phenotype is shown in parentheses.
6 (17.1%)
Night blindness: 5 (14.3%)
Patient Count: 5 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (14.3%)
Failure to thrive: 4 (11.4%)
Patient Count: 4 (11.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (11.4%)