This Panel is marked as Retired
Epilepsy Plus
Gene: CACNA1A
CACNA1A (calcium voltage-gated channel subunit alpha1 A)
EnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 23 panels
0 reviews
Details
- Sources
-
- Expert
- Expert Review Red
- OMIM
- 601011
- Clinvar variants
- Variants in CACNA1A
- Penetrance
- Complete
- Panels with this gene
-
- Congenital myaesthenic syndrome
- Infantile nystagmus
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Skeletal muscle channelopathy
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Intellectual disability
- Hereditary spastic paraplegia
- Early onset or syndromic epilepsy
- Albinism or congenital nystagmus
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Brain channelopathy
- Adult onset hereditary spastic paraplegia
- Skeletal Muscle Channelopathies
- Familial cerebral small vessel disease
- Childhood onset hereditary spastic paraplegia
- Familial Meniere Disease
History Filter Activity
8 Sep 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CACNA1A was added to Epilepsy Pluspanel. Sources: Expert,Expert Review Red
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CACNA1A was created by ellenmcdonagh