This Panel is marked as Retired
Epileptic encephalopathy
Gene: CACNB4
CACNB4 (calcium voltage-gated channel auxiliary subunit beta 4)
EnsemblGeneIds (GRCh38): ENSG00000182389
EnsemblGeneIds (GRCh37): ENSG00000182389
OMIM: 601949, Gene2Phenotype
CACNB4 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000182389
EnsemblGeneIds (GRCh37): ENSG00000182389
OMIM: 601949, Gene2Phenotype
CACNB4 is in 14 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
- 601949
- Clinvar variants
- Variants in CACNB4
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Hereditary ataxia
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Paroxysmal central nervous system disorders
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)CACNB4 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)CACNB4 was added to Epileptic encephalopathypanel. Sources: Expert