Epileptic encephalopathy
Gene: HCN1EnsemblGeneIds (GRCh38): ENSG00000164588
EnsemblGeneIds (GRCh37): ENSG00000164588
OMIM: 602780, Gene2Phenotype
HCN1 is in 4 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- Nava et al (2014) Nature Genet 46(6). 640-648
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
Publications
- Nava et al (2014) Nature Genet 46(6). 640-648
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
Publications
- Nava et al (2014) Nature Genet 46(6). 640-648
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
Publications
- Nava et al (2014) Nature Genet 46(6). 640-648
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: All reviewers agree, and this is a confirmed DD gene for epileptic encephalopathy, early infantile.Created: 5 Jan 2016, 12:37 p.m.
Comment on phenotypes: Sources: OMIM, G2P.Created: 5 Jan 2016, 12:36 p.m.
Comment on mode of inheritance: Checked the imprinted gene list, G2P, OMIM.Created: 5 Jan 2016, 12:35 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Epileptic encephalopathy, early infantile, 24
- OMIM
- 602780
- Clinvar variants
- Variants in HCN1
- Penetrance
- Complete
- Publications
-
- Nava et al (2014) Nature Genet 46(6). 640-648
- 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 HCN1 were set to Epileptic encephalopathy, early infantile, 24
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for HCN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)HCN1 was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Created
Richard Scott (North Thames GMC/UCL)HCN1 was created by Reviewer_03
Added New Source
Richard Scott (North Thames GMC/UCL)HCN1 was added to Epileptic encephalopathypanel. Sources: Expert Review