Early onset or syndromic epilepsy
Gene: CHRNA4
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 1. Scheffer et al 1995, Phillips et al, 1995 & Steinlein et al 1995 - a large Australian kindred with 27 affected individuals over 6 generations - mutation identifed.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, 1,600513; {Nicotine addiction, susceptibility to},188890
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 CHRNA4 to be green on this merged panelCreated: 9 Apr 2018, 9:18 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, nocturnal frontal lobe, 1
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, 1
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, 1
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
600513
Publications
Comment on list classification: Reviewers later agreed that this gene should be red.Created: 29 Jan 2016, 11:46 a.m.
Causes a different seizure phenotypeCreated: 12 Nov 2015, 2:57 p.m.
Phenotypes
Epilepsy, nocturnal frontal lobe, 1
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to CHRNA4.
Source NHS GMS was added to CHRNA4.
Richard Scott: Causes a different seizure phe
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to CHRNA4. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to CHRNA4. Panel: Genetic Epilepsy Syndromes
Phenotypes for CHRNA4 were set to Epilepsy, nocturnal frontal lobe, 1 600513
Publications for CHRNA4 were set to 7550350; 14623738
This gene has been classified as Green List (High Evidence).
CHRNA4 was added to Genetic Epilepsy Syndromes panel. Sources: Expert,UKGTN,Expert Review Red
CHRNA4 was created by Sarah Leigh