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Genetic epilepsy syndromes

Gene: KCNC1

Green List (high evidence)

KCNC1 (potassium voltage-gated channel subfamily C member 1)
EnsemblGeneIds (GRCh38): ENSG00000129159
EnsemblGeneIds (GRCh37): ENSG00000129159
OMIM: 176258, Gene2Phenotype
KCNC1 is in 5 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: 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 progressive myoclonic epilepsy 7 - characterised by onset of severe progressive myoclonis and infrequent tonic clonic seizures in the 1st or 2nd decades of life. Muona et al, 2015 - 13 unrelated patients (presented between 6 and 14 years of age). Found to have arisen de novo in 12 probands, In the other proband she had an aff sib and two aff children who all carried the variant (of note probands parents both unaff and mutation neg and mosaicism not suggested). The same de novo variant ws identifed in all (R320H). In vitro functional expression studies showed that the mutation caused a loss of channel function wih dom neg effect. Of note two other variants in this gene reported on pubmed in assoc with ID and no epilepsy.
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
Epilepsy, progressive myoclonic, 616187

Publications

Sarah Leigh (Genomics England Curator)

Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. One variants reported in at least 11 unrelated cases from different ethnic backgrounds.
Created: 10 Apr 2018, 9:46 a.m.

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Publications

  • Muona et al (2015) Nat Genet 47(1): 39-46

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Publications

  • Muona et al (2015) Nat Genet 47(1): 39-46

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Publications

  • Muona et al (2015) Nat Genet 47(1): 39-46

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Publications

  • Muona et al (2015) Nat Genet 47(1): 39-46

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, 4:16 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review
Phenotypes
  • Epilepsy, progressive myoclonic 7 616187
OMIM
176258
Clinvar variants
Variants in KCNC1
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 KCNC1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to KCNC1.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Gene added in expert review of

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to KCNC1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to KCNC1. Panel: Genetic Epilepsy Syndromes

10 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

10 Apr 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for KCNC1 were set to Epilepsy, progressive myoclonic 7 616187

10 Apr 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for KCNC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

10 Apr 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for KCNC1 were set to 25401298; 28145425

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

KCNC1 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)

KCNC1 was created by Sarah Leigh