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Epileptic encephalopathy

Gene: CHRNB2

Red List (low evidence)

CHRNB2 (cholinergic receptor nicotinic beta 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000160716
EnsemblGeneIds (GRCh37): ENSG00000160716
OMIM: 118507, Gene2Phenotype
CHRNB2 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, 3

Publications

  • De Fusco et al (2001) Nature Genet 26: 275-276

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, 3

Publications

  • De Fusco et al (2001) Nature Genet 26: 275-276

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, 3

Publications

  • De Fusco et al (2001) Nature Genet 26: 275-276

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: The reviewers agreed later by email that this gene should be red as it is related to frontal lobe epilepsy.
29 Jan 2016, 11:43 a.m.

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Causes a different seizure phenotype
12 Nov 2015, 2:58 p.m.

Phenotypes
Epilepsy, nocturnal frontal lobe, 3

Publications

  • De Fusco et al (2001) Nature Genet 26: 275-276

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, 3
OMIM
118507
Clinvar variants
Variants in CHRNB2
Penetrance
Complete
Publications
  • De Fusco et al (2001) Nature Genet 26: 275-276
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 CHRNB2 were set to Epilepsy, nocturnal frontal lobe, 3

29 Jan 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CHRNB2 were set to De Fusco et al (2001) Nature Genet 26: 275-276

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)

CHRNB2 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 CHRNB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CHRNB2 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CHRNB2 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert