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Epileptic encephalopathy

Gene: KCNA2

Green List (high evidence)

KCNA2 (potassium voltage-gated channel subfamily A member 2)
EnsemblGeneIds (GRCh38): ENSG00000177301
EnsemblGeneIds (GRCh37): ENSG00000177301
OMIM: 176262, Gene2Phenotype
KCNA2 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

  • Syrbe et al (2015) Nat Genet 47(4): 393-9

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

  • Syrbe et al (2015) Nat Genet 47(4): 393-9

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

  • Syrbe et al (2015) Nat Genet 47(4): 393-9

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

  • Syrbe et al (2015) Nat Genet 47(4): 393-9

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Loss of function and gain of function variants within this gene can cause epileptic encephalopathy (G2P database).
20 Jan 2016, 12:12 p.m.
Comment on phenotypes: Sourced from OMIM and G2P.
20 Jan 2016, 12:11 p.m.
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, 4:14 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 32
  • EPILEPTIC ENCEPHALOPATHY
OMIM
176262
Clinvar variants
Variants in KCNA2
Penetrance
Complete
Publications
  • Syrbe et al (2015) Nat Genet 47(4): 393-9
Panels with this gene

History Filter Activity

20 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).

20 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for KCNA2 were set to Epileptic encephalopathy, early infantile, 32; EPILEPTIC ENCEPHALOPATHY

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)

KCNA2 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

Added New Source

Richard Scott (North Thames GMC/UCL)

KCNA2 was added to Epileptic encephalopathypanel. Sources: Expert Review

12 Nov 2015, Gel status: 0

Created

Richard Scott (North Thames GMC/UCL)

KCNA2 was created by Reviewer_03