Epileptic encephalopathy
Gene: KCNA2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for KCNA2 were set to Epileptic encephalopathy, early infantile, 32; EPILEPTIC ENCEPHALOPATHY
The Gel status was updated for this whole panel
KCNA2 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
This proposed gene was validated and added to this panel
KCNA2 was added to Epileptic encephalopathypanel. Sources: Expert Review
KCNA2 was created by Reviewer_03