Genomics England
GMS Panels
Panels
Genes and Entities

ARFGEF3

ARFGEF family member 3
OMIM: 617411
PanelMode of inheritanceDetails
1 panel
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
early-onset generalized dystonia, MONDO:0100016