Epileptic encephalopathy
Gene: CHRNB2EnsemblGeneIds (GRCh38): ENSG00000160716
EnsemblGeneIds (GRCh37): ENSG00000160716
OMIM: 118507, Gene2Phenotype
CHRNB2 is in 4 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, nocturnal frontal lobe, 3
Publications
- De Fusco et al (2001) Nature Genet 26: 275-276
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
Phenotypes
Epilepsy, nocturnal frontal lobe, 3
Publications
- De Fusco et al (2001) Nature Genet 26: 275-276
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
Phenotypes
Epilepsy, nocturnal frontal lobe, 3
Publications
- De Fusco et al (2001) Nature Genet 26: 275-276
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: The reviewers agreed later by email that this gene should be red as it is related to frontal lobe epilepsy.Created: 29 Jan 2016, 11:43 a.m.
Richard Scott (North Thames GMC/UCL)
Causes a different seizure phenotypeCreated: 12 Nov 2015, 2:58 p.m.
Phenotypes
Epilepsy, nocturnal frontal lobe, 3
Publications
- De Fusco et al (2001) Nature Genet 26: 275-276
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert
- UKGTN
- Phenotypes
-
- Epilepsy, nocturnal frontal lobe, 3
- OMIM
- 118507
- Clinvar variants
- Variants in CHRNB2
- Penetrance
- Complete
- Publications
-
- De Fusco et al (2001) Nature Genet 26: 275-276
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CHRNB2 were set to Epilepsy, nocturnal frontal lobe, 3
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CHRNB2 were set to De Fusco et al (2001) Nature Genet 26: 275-276
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)CHRNB2 was added to Epileptic encephalopathypanel. Source: Expert Review Red
gel status update
GEL ()The Gel status was updated for this whole panel
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CHRNB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)CHRNB2 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)CHRNB2 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert