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Epileptic encephalopathy

Gene: SIK1

Green List (high evidence)

SIK1 (salt inducible kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000142178
EnsemblGeneIds (GRCh37): ENSG00000142178
OMIM: 605705, Gene2Phenotype
SIK1 is in 5 panels

5 reviews

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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 OMIM
Created: 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
Panels with this gene

History Filter Activity

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SIK1 were set to NEONATAL EPILEPSY SPECTRUM; Epileptic encephalopathy, early infantile, 30

21 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SIK1 were set to PMID: 25839329

21 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SIK1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SIK1 was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 0

gel status update

GEL ()

The Gel status was updated for this whole panel

12 Nov 2015, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

12 Nov 2015, Gel status: 0

Created

Richard Scott (North Thames GMC/UCL)

SIK1 was created by Reviewer_03

12 Nov 2015, Gel status: 0

Added New Source

Richard Scott (North Thames GMC/UCL)

SIK1 was added to Epileptic encephalopathypanel. Sources: Expert Review