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VPS50

VPS50 subunit of EARP/GARPII complex

HCNC Approved Symbol
VPS50 (HGNC:25956)
Genomic Coordinates
7:93,232,366 - 93,361,123 (7q21.2-q21.3)
Synonyms
KIAA1861, FLJ20097, DKFZp313I2429, VPS54L, CCDC132
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
619685AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the VPS50 gene.

Frequently observed phenotypes

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

No Results