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
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Choreoacanthocytosis, OMIM:200150
Green
in Adult onset neurodegenerative disorder
Component of the following Super Panels:
  • - Adult-onset neurological disorders
R-numbers: R58
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Choreoacanthocytosis, OMIM:200150
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Choreoacanthocytosis 200150, complex parkinsonism