Epileptic encephalopathy
Gene: CHRNB2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, nocturnal frontal lobe, 3
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, nocturnal frontal lobe, 3
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, nocturnal frontal lobe, 3
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
Causes a different seizure phenotypeCreated: 12 Nov 2015, 2:58 p.m.
Phenotypes
Epilepsy, nocturnal frontal lobe, 3
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Red List (Low Evidence).
Phenotypes for CHRNB2 were set to Epilepsy, nocturnal frontal lobe, 3
Publications for CHRNB2 were set to De Fusco et al (2001) Nature Genet 26: 275-276
This gene has been classified as Red List (Low Evidence).
The Gel status was updated for this whole panel
CHRNB2 was added to Epileptic encephalopathypanel. Source: Expert Review Red
The Gel status was updated for this whole panel
Model of inheritance for gene CHRNB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CHRNB2 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
CHRNB2 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert