This Panel is marked as Retired
Epileptic encephalopathy
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
4 reviews
Amy McTague (UCL Institute of Child Health)
Natalie Trump (NHS - Great Ormond Street Hospital)
Manju Kurian (UCL-Institute of Child Health)
Richard Scott (North Thames GMC/UCL)
Details
- Sources
-
- Expert Review Red
- Expert
- OMIM
- 601011
- Clinvar variants
- Variants in CACNA1A
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Hereditary spastic paraplegia, childhood onset
- Familial Meniere Disease
- Hereditary ataxia, adult onset
- Hereditary spastic paraplegia, adult onset
- Dystonia, chorea or related movement disorder, adult onset
- Early onset or syndromic epilepsy
- Infantile nystagmus
- Congenital myaesthenic syndrome
- Hereditary ataxia
- Ataxia and cerebellar anomalies - childhood onset
- Skeletal muscle channelopathy
- Paroxysmal central nervous system disorders
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Hereditary spastic paraplegia
- Albinism or congenital nystagmus
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Familial cerebral small vessel disease
History Filter Activity
13 Nov 2015, Gel status: 1
gel status update
GEL ()The Gel status was updated for this whole panel
13 Nov 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CACNA1A was added to Epileptic encephalopathypanel. Source: Expert Review Red
13 Nov 2015, Gel status: 0
gel status update
GEL ()The Gel status was updated for this whole panel
1 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CACNA1A was added to Epileptic encephalopathypanel. Sources: Expert