Epileptic encephalopathy
Gene: KCNB1EnsemblGeneIds (GRCh38): ENSG00000158445
EnsemblGeneIds (GRCh37): ENSG00000158445
OMIM: 600397, Gene2Phenotype
KCNB1 is in 4 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- Torkamani et al (2014) Ann. Neurol. 76: 529-540, 2014
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
- Torkamani et al (2014) Ann. Neurol. 76: 529-540, 2014
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
- Torkamani et al (2014) Ann. Neurol. 76: 529-540, 2014
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
- Torkamani et al (2014) Ann. Neurol. 76: 529-540, 2014
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Epileptic encephalopathy, early infantile, 26
- OMIM
- 600397
- Clinvar variants
- Variants in KCNB1
- Penetrance
- Complete
- Publications
-
- Torkamani et al (2014) Ann. Neurol. 76: 529-540, 2014
- Panels with this gene
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 KCNB1 were set to Epileptic encephalopathy, early infantile, 26
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KCNB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KCNB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)KCNB1 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)KCNB1 was added to Epileptic encephalopathypanel. Sources: Expert Review
Created
Richard Scott (North Thames GMC/UCL)KCNB1 was created by Reviewer_03