Early onset or syndromic epilepsy

Gene: CHRNA4

I don't know

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

Green List (high evidence)

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

• 29454195
• 21753767

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 panel

Created: 9 Apr 2018, 9:18 a.m.

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Epilepsy, nocturnal frontal lobe, 1

Publications

• Steinlein et al (1995) Nature Genet 11: 201-203

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Epilepsy, nocturnal frontal lobe, 1

Publications

• Steinlein et al (1995) Nature Genet 11: 201-203

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Epilepsy, nocturnal frontal lobe, 1

Publications

• Steinlein et al (1995) Nature Genet 11: 201-203

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
600513

Publications

• 7550350

Comment on list classification: Reviewers later agreed that this gene should be red.

Created: 29 Jan 2016, 11:46 a.m.

Red List (low evidence)

Causes a different seizure phenotype

Created: 12 Nov 2015, 2:57 p.m.

Phenotypes
Epilepsy, nocturnal frontal lobe, 1

Publications

• Steinlein et al (1995) Nature Genet 11: 201-203

Variants in this GENE are reported as part of current diagnostic practice