Epileptic encephalopathy
Gene: KCNB1
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: Missense/in frame variants in this gene cause this disorder (G2P).Created: 20 Jan 2016, 12:19 p.m.
Comment on phenotypes: Sourced from OMIM.Created: 20 Jan 2016, 12:16 p.m.
Comment on mode of inheritance: Monoallelic confirmed in G2P. Not on the imprinted gene list.Created: 20 Jan 2016, 12:15 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, 4:16 p.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for KCNB1 were set to Epileptic encephalopathy, early infantile, 26
Mode of inheritance for KCNB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for KCNB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
The Gel status was updated for this whole panel
KCNB1 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
KCNB1 was added to Epileptic encephalopathypanel. Sources: Expert Review
KCNB1 was created by Reviewer_03