Epileptic encephalopathy
Gene: CHD2EnsemblGeneIds (GRCh38): ENSG00000173575
EnsemblGeneIds (GRCh37): ENSG00000173575
OMIM: 602119, Gene2Phenotype
CHD2 is in 4 panels
6 reviews
Donavan Cheng (Illumina)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Amy McTague (UCL Institute of Child Health)
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)
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)
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)
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 gene2phenotypeCreated: 17 Dec 2015, 3:03 p.m.
Comment on mode of inheritance: Checked the imprinted gene list.Created: 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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CHD2 were set to EPILEPTIC ENCEPHALOPATHY
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CHD2 were set to EPILEPTIC ENCEPHALOPATHY
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CHD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
gel status update
GEL ()The Gel status was updated for this whole panel
Upload gene information
Ellen McDonagh (Genomics England Curator)CHD2 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
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
Added New Source
Ellen McDonagh (Genomics England Curator)CHD2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
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
Added New Source
Ellen McDonagh (Genomics England Curator)CHD2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)CHD2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert