Genomics England
GMS Panels
Panels
Genes and Entities

CACNA1A

calcium voltage-gated channel subunit alpha1 A
OMIM: 601011
PanelMode of inheritanceDetails
9 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic ataxia, type 2, OMIM:108500, Migraine, familial hemiplegic, 1, OMIM:141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Green
in Albinism or congenital nystagmus
R-numbers: R39
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic ataxia, type 2, OMIM:108500
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 42, OMIM:617106, developmental and epileptic encephalopathy, 42, MONDO:0014917, Episodic ataxia, type 2, OMIM:108500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic ataxia, type 2, OMIM:108500
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EPILEPTIC ENCEPHALOPATHY
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 42, OMIM:617106, developmental and epileptic encephalopathy, 42, MONDO:0014917, Episodic ataxia, type 2, OMIM:108500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic ataxia, type 2, OMIM:108500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 9.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Developemental and epileptic encephalopathy 42, OMIM:617106, developmental and epileptic encephalopathy, 42, MONDO:0014917
Green
in Paroxysmal central nervous system disorders
R-numbers: R66
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Episodic ataxia, type 2, OMIM:108500, Migraine, familial hemiplegic, 1, OMIM:141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500