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Genetic epilepsy syndromes

Gene: CHRNA4

Green List (high evidence)

CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit)
EnsemblGeneIds (GRCh38): ENSG00000101204
EnsemblGeneIds (GRCh37): ENSG00000101204
OMIM: 118504, Gene2Phenotype
CHRNA4 is in 5 panels

9 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Mode of pathogenicity
loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Sarah Leigh (Genomics England Curator)

Comment on list classification: Appropriate for CHRNA4 to be green on this merged panel
Created: 9 Apr 2018, 9:18 a.m.

Amy McTague (UCL Institute of Child Health)

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

Natalie Trump (NHS - Great Ormond Street Hospital)

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

Manju Kurian (UCL-Institute of Child Health)

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

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
600513

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Reviewers later agreed that this gene should be red.
Created: 29 Jan 2016, 11:46 a.m.

Richard Scott (North Thames GMC/UCL)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • UKGTN
  • Expert
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 1 600513
OMIM
118504
Clinvar variants
Variants in CHRNA4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CHRNA4.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CHRNA4.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Richard Scott: Causes a different seizure phe

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to CHRNA4. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to CHRNA4. Panel: Genetic Epilepsy Syndromes

9 Apr 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CHRNA4 were set to Epilepsy, nocturnal frontal lobe, 1 600513

9 Apr 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CHRNA4 were set to 7550350; 14623738

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CHRNA4 was added to Genetic Epilepsy Syndromes panel. Sources: Expert,UKGTN,Expert Review Red

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CHRNA4 was created by Sarah Leigh