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  3. CSNK1G1
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Early onset or syndromic epilepsy

Gene: CSNK1G1

Amber List (moderate evidence)
CSNK1G1 (casein kinase 1 gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000169118
EnsemblGeneIds (GRCh37): ENSG00000169118
OMIM: 606274, Gene2Phenotype
CSNK1G1 is in 4 panels

8 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: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
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)

Red List (low evidence)

OMIM - VUS reported Martin et al, 2014 - child from Bangledesh with EIEE and microcephaly - de novo het missense variant no functional studies done.
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
severe early-onset epilepsy

Publications

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: NHS Genomic Medicine Service review of CSNK1G1 on the Intellectual disability panel, recommended that CSNK1G1 should be made amber on the Genetic epilepsy syndromes panel; as epilepsy was seen in 2/5 reported cases (PMID: 33009664).
Created: 3 Feb 2022, 3:06 p.m. | Last Modified: 3 Feb 2022, 3:11 p.m.
Panel Version: 2.489
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. Only one variant reported to date in a single case of early infantile epileptic encephalopathy and microcephaly, no functional data was provided (PMID 24463883)
Created: 9 Apr 2018, 5 p.m.
Created: 9 Apr 2018, 5 p.m.
Last Modified: 3 Feb 2022, 3:11 p.m.
Panel version: 0.72

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Publications

  • Martin et al (2014) Hum Mol Genet 23(12).3200-3211

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Publications

  • Martin et al (2014) Hum Mol Genet 23(12).3200-3211

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Publications

  • Martin et al (2014) Hum Mol Genet 23(12).3200-3211

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Publications

  • Martin et al (2014) Hum Mol Genet 23(12).3200-3211

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

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.
Created: 12 Nov 2015, 3:57 p.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
Tags
gene-checked
OMIM
606274
Clinvar variants
Variants in CSNK1G1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2022, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag gene-checked tag was added to gene: CSNK1G1.

3 Feb 2022, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CSNK1G1 were set to 24463883

3 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: csnk1g1 has been classified as Amber List (Moderate Evidence).

21 Dec 2020, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: CSNK1G1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CSNK1G1.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CSNK1G1.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Gene added in expert review of

26 Sep 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CSNK1G1 were set to 24463883

26 Sep 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CSNK1G1 were set to Martin et al (2014) Hum Mol Genet 23(12).3200-3211

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CSNK1G1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert Review

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CSNK1G1 was created by Sarah Leigh