Genomics England
GMS Panels
Panels
Genes and Entities

VPS13A

vacuolar protein sorting 13 homolog A
OMIM: 605978
PanelMode of inheritanceDetails
3 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Choreoacanthocytosis, OMIM:200150
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Choreoacanthocytosis, OMIM:200150
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Choreoacanthocytosis 200150, complex parkinsonism