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Epileptic encephalopathy

Gene: CHD2

Green List (high evidence)

CHD2 (chromodomain helicase DNA binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000173575
EnsemblGeneIds (GRCh37): ENSG00000173575
OMIM: 602119, Gene2Phenotype
CHD2 is in 5 panels

6 reviews

Donavan Cheng (Illumina)

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

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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

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

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

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

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

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

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

Ellen McDonagh (Genomics England Curator)

Comment on phenotypes: Sourced from gene2phenotype
17 Dec 2015, 3:03 p.m.
Comment on mode of inheritance: Checked the imprinted gene list.
17 Dec 2015, 3:02 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
OMIM
602119
Clinvar variants
Variants in CHD2
Penetrance
Complete
Panels with this gene

History Filter Activity

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

17 Dec 2015, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CHD2 were set to EPILEPTIC ENCEPHALOPATHY

17 Dec 2015, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CHD2 were set to EPILEPTIC ENCEPHALOPATHY

17 Dec 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CHD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

CHD2 was added to Epileptic encephalopathypanel. Sources: Expert Review Green

1 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CHD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

1 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CHD2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert

1 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CHD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

1 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CHD2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CHD2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert