Genomics England
GMS Panels
Panels
Genes and Entities

ATXN3_CAG

ataxin 3
OMIM: 607047
PanelMode of inheritanceDetails
4 panels
Green
in Dystonia, chorea or related movement disorder, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Machado-Joseph disease, OMIM:109150
Green
in Hereditary ataxia, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Machado-Joseph disease, OMIM:109150
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 8.30
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Machado-Joseph disease, OMIM:109150
Green
in Hereditary spastic paraplegia, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Machado-Joseph disease, OMIM:109150