VPS13A

vacuolar protein sorting 13 homolog A
OMIM: 605978
PanelMode of inheritanceDetails
3 panels
R-numbers: R56
Signed-off version 1.121
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Choreoacanthocytosis, OMIM:200150
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Choreoacanthocytosis 200150, complex parkinsonism
R-numbers: R58
Signed-off version 2.178
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Choreoacanthocytosis, OMIM:200150