Epileptic encephalopathy
Gene: SIK1EnsemblGeneIds (GRCh38): ENSG00000142178
EnsemblGeneIds (GRCh37): ENSG00000142178
OMIM: 605705, Gene2Phenotype
SIK1 is in 5 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- Hansen et al (2015) Am J Hum Genet 96(4): 682-90
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- Hansen et al (2015) Am J Hum Genet 96(4): 682-90
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- Hansen et al (2015) Am J Hum Genet 96(4): 682-90
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- Hansen et al (2015) Am J Hum Genet 96(4): 682-90
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Mechanism may be activating (G2P), but truncating or missense mutations still relevant.Created: 29 Jan 2016, 5:06 p.m.
Comment on phenotypes: Sourced from G2P and OMIMCreated: 21 Jan 2016, 1:08 p.m.
Comment on mode of inheritance: Confirmed and not on imprinted gene list.Created: 21 Jan 2016, 1:01 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- NEONATAL EPILEPSY SPECTRUM
- Epileptic encephalopathy, early infantile, 30
- OMIM
- 605705
- Clinvar variants
- Variants in SIK1
- Penetrance
- Complete
- Publications
-
- PMID: 25839329
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SIK1 were set to NEONATAL EPILEPSY SPECTRUM; Epileptic encephalopathy, early infantile, 30
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SIK1 were set to PMID: 25839329
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SIK1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)SIK1 was added to Epileptic encephalopathypanel. Source: Expert Review Green
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
Created
Richard Scott (North Thames GMC/UCL)SIK1 was created by Reviewer_03
Added New Source
Richard Scott (North Thames GMC/UCL)SIK1 was added to Epileptic encephalopathypanel. Sources: Expert Review