Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

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

7 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD EIEE30. Hansen et al, 2015 - 6 unrelated children with early onset refractory epilepsy. 6 diifferent de novo het mutations identified - 3 missense, 3 truncating. In vitro functional expression studies showed all mutant proteins identified even truncating ones = normal kinase activity. Studies in HEK293 cells, showed that missense mutant proteins had normal punctate nucelar localistion, similar to wt, where as truncated proteins had a broader pattern of localisation in the nucleus and cytoplasm as well as increased stability compared to wild type. Further paper from this group - Proschel et al, 2017, functional work to support pathogenicity.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 616341

Publications

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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review
  • Expert Review Green
Phenotypes
  • NEONATAL EPILEPSY SPECTRUM
  • Epileptic encephalopathy, early infantile, 30
OMIM
605705
Clinvar variants
Variants in SIK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SIK1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SIK1.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SIK1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SIK1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

SIK1 was created by Sarah Leigh