Early onset or syndromic epilepsy
Gene: CHRNB2
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
To date, missense variants have been reported to cause ADNFLE. AD Nocturnal frontal lobe epilepsy 3. On HGMD Pro - several variants associated with this phenotype. Paper by Hoda et al, 2008, states that almost all the causative variants in CHRNA4 and CHRNB2 are located in TM2 - the major ion poreforming domain of the receptor. Nichols et al 2016 - functional work done.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy, nocturnal frontal lobe, 3,605375
Publications
Mode of pathogenicity
loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Comment on list classification: Appropriate for CHRNB2 to be green on this broad epilepsy panelCreated: 9 Apr 2018, 9:32 a.m.
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
Upgraded to green following the expert review (Prof. Sisodiya) and literature revision: two families described with Epilepsy, nocturnal frontal lobe, and good functional evidence in murine models carrying the mutationCreated: 12 Jun 2017, 9:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy, nocturnal frontal lobe, 3 605375
Publications
Insufficient data currentlyCreated: 8 Feb 2016, 2:48 a.m.
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
Source Wessex and West Midlands GLH was added to CHRNB2.
Source NHS GMS was added to CHRNB2.
Richard Scott: Causes a different seizure phe
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to CHRNB2. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to CHRNB2. Panel: Genetic Epilepsy Syndromes
This gene has been classified as Green List (High Evidence).
Phenotypes for CHRNB2 were set to Epilepsy, nocturnal frontal lobe, 3 605375
Publications for CHRNB2 were set to 11062464; 11104662
CHRNB2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert,UKGTN
CHRNB2 was created by Sarah Leigh