Genomics England
GMS Panels
Panels
Genes and Entities

ANO3

anoctamin 3
OMIM: 610110
PanelMode of inheritanceDetails
2 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia 24 OMIM:615034, dystonia 24 MONDO:0014019
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia 24, 615034, familial form of cranio-cervical dystonia