This Panel is marked as Retired
Epileptic encephalopathy
Gene: CASK
CASK (calcium/calmodulin dependent serine protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000147044
EnsemblGeneIds (GRCh37): ENSG00000147044
OMIM: 300172, Gene2Phenotype
CASK is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000147044
EnsemblGeneIds (GRCh37): ENSG00000147044
OMIM: 300172, Gene2Phenotype
CASK is in 15 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
- 300172
- Clinvar variants
- Variants in CASK
- Penetrance
- Complete
- Panels with this gene
-
- Severe microcephaly
- Hereditary ataxia, adult onset
- Cerebellar hypoplasia
- Non-syndromic familial congenital anorectal malformations
- Early onset or syndromic epilepsy
- Intellectual disability
- Hereditary ataxia
- Ataxia and cerebellar anomalies - childhood onset
- Neurodegenerative disorders, adult onset
- Fetal anomalies
- Albinism or congenital nystagmus
- Dystonia, chorea or related movement disorder, childhood onset
- DDG2P
- Clefting
- Malformations of cortical development
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)CASK 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)CASK was added to Epileptic encephalopathypanel. Sources: Expert