Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Epileptic encephalopathy

Gene: KCNC1

Red List (low evidence)

KCNC1 (potassium voltage-gated channel subfamily C member 1)
EnsemblGeneIds (GRCh38): ENSG00000129159
EnsemblGeneIds (GRCh37): ENSG00000129159
OMIM: 176258, Gene2Phenotype
KCNC1 is in 4 panels

5 reviews

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).
12 Nov 2015, 4:16 p.m.

Details

Sources
  • Expert Review Red
OMIM
176258
Clinvar variants
Variants in KCNC1
Penetrance
Complete
Publications
  • Muona et al (2015) Nat Genet 47(1): 39-46
Panels with this gene

History Filter Activity

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNC1 was added to Epileptic encephalopathypanel. Source: Expert Review Red

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)

KCNC1 was created by Reviewer_03

12 Nov 2015, Gel status: 0

Added New Source

Richard Scott (North Thames GMC/UCL)

KCNC1 was added to Epileptic encephalopathypanel. Sources: Expert Review