Epileptic encephalopathy
Gene: KCNA2EnsemblGeneIds (GRCh38): ENSG00000177301
EnsemblGeneIds (GRCh37): ENSG00000177301
OMIM: 176262, Gene2Phenotype
KCNA2 is in 10 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
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)
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)
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)
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).Created: 20 Jan 2016, 12:12 p.m.
Comment on phenotypes: Sourced from OMIM and G2P.Created: 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).Created: 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
-
- Intellectual disability
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- Childhood onset hereditary spastic paraplegia
- DDG2P
- Hereditary neuropathy or pain disorder
- Adult onset hereditary spastic paraplegia
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for KCNA2 were set to Epileptic encephalopathy, early infantile, 32; EPILEPTIC ENCEPHALOPATHY
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)KCNA2 was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Richard Scott (North Thames GMC/UCL)KCNA2 was added to Epileptic encephalopathypanel. Sources: Expert Review
Created
Richard Scott (North Thames GMC/UCL)KCNA2 was created by Reviewer_03