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Epileptic encephalopathy

Gene: CHRNA4

Red List (low evidence)

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

5 reviews

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

Ellen McDonagh (Genomics England Curator)

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

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Causes a different seizure phenotype
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
  • Expert Review Red
  • Expert
  • UKGTN
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 1
OMIM
118504
Clinvar variants
Variants in CHRNA4
Penetrance
Complete
Publications
  • Steinlein et al (1995) Nature Genet 11: 201-203
Panels with this gene

History Filter Activity

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Jan 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

29 Jan 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CHRNA4 were set to Steinlein et al (1995) Nature Genet 11: 201-203

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CHRNA4 was added to Epileptic encephalopathypanel. Source: Expert Review Red

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CHRNA4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CHRNA4 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CHRNA4 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert