Genomics England
GMS Panels
Panels
Genes and Entities

VPS50

VPS50, EARP/GARPII complex subunit
OMIM: 616465
PanelMode of inheritanceDetails
1 panel
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder with microcephaly, seizures and neonatal cholestasis, OMIM:619685