This Panel is marked as Retired
Epilepsy Plus
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
0 reviews
Details
- Sources
-
- Expert
- Expert Review Red
- OMIM
- 300172
- Clinvar variants
- Variants in CASK
- Penetrance
- Complete
- Panels with this gene
-
- Non-syndromic familial congenital anorectal malformations
- Cerebellar hypoplasia
- Severe microcephaly
- Clefting
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Malformations of cortical development
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- Albinism or congenital nystagmus
- Hereditary ataxia
- Fetal anomalies
- DDG2P
History Filter Activity
8 Sep 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CASK was added to Epilepsy Pluspanel. Sources: Expert,Expert Review Red
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CASK was created by ellenmcdonagh