Epileptic encephalopathy
Gene: HCN1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for HCN1 were set to Epileptic encephalopathy, early infantile, 24
Mode of inheritance for HCN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
HCN1 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
This proposed gene was validated and added to this panel
HCN1 was created by Reviewer_03
HCN1 was added to Epileptic encephalopathypanel. Sources: Expert Review