Genomics England
GMS Panels
Panels
Genes and Entities

CACNA1A_CAG

calcium voltage-gated channel subunit alpha1 A
OMIM: 601011
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
Spinocerebellar ataxia 6, OMIM:183086
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
Spinocerebellar ataxia 6, OMIM:183086
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
Spinocerebellar ataxia 6, OMIM:183086
Green
in Neurodegenerative disorders, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 6, OMIM:183086, spinocerebellar ataxia type 6, MONDO:0008457