Epileptic encephalopathy
Gene: CSNK1G1EnsemblGeneIds (GRCh38): ENSG00000169118
EnsemblGeneIds (GRCh37): ENSG00000169118
OMIM: 606274, Gene2Phenotype
CSNK1G1 is in 4 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Publications
- Martin et al (2014) Hum Mol Genet 23(12).3200-3211
Natalie Trump (NHS - Great Ormond Street Hospital)
Publications
- Martin et al (2014) Hum Mol Genet 23(12).3200-3211
Manju Kurian (UCL-Institute of Child Health)
Publications
- Martin et al (2014) Hum Mol Genet 23(12).3200-3211
Richard Scott (North Thames GMC/UCL)
Publications
- Martin et al (2014) Hum Mol Genet 23(12).3200-3211
Ellen McDonagh (Genomics England Curator)
Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).Created: 12 Nov 2015, 3:57 p.m.
Details
- Sources
-
- Expert Review Red
- OMIM
- 606274
- Clinvar variants
- Variants in CSNK1G1
- Penetrance
- Complete
- Publications
-
- Martin et al (2014) Hum Mol Genet 23(12).3200-3211
- Panels with this gene
History Filter Activity
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)CSNK1G1 was added to Epileptic encephalopathypanel. Source: Expert Review Red
gel status update
GEL ()The Gel status was updated for this whole panel
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Richard Scott (North Thames GMC/UCL)CSNK1G1 was added to Epileptic encephalopathypanel. Sources: Expert Review
Created
Richard Scott (North Thames GMC/UCL)CSNK1G1 was created by Reviewer_03