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Epileptic encephalopathy

Gene: HCN1

Green List (high evidence)

HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1)
EnsemblGeneIds (GRCh38): ENSG00000164588
EnsemblGeneIds (GRCh37): ENSG00000164588
OMIM: 602780, Gene2Phenotype
HCN1 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

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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.
5 Jan 2016, 12:37 p.m.
Comment on phenotypes: Sources: OMIM, G2P.
5 Jan 2016, 12:36 p.m.
Comment on mode of inheritance: Checked the imprinted gene list, G2P, OMIM.
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

5 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

5 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for HCN1 were set to Epileptic encephalopathy, early infantile, 24

5 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for HCN1 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

Added New Source

Ellen McDonagh (Genomics England Curator)

HCN1 was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 0

gel status update

GEL ()

The Gel status was updated for this whole panel

12 Nov 2015, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

12 Nov 2015, Gel status: 0

Created

Richard Scott (North Thames GMC/UCL)

HCN1 was created by Reviewer_03

12 Nov 2015, Gel status: 0

Added New Source

Richard Scott (North Thames GMC/UCL)

HCN1 was added to Epileptic encephalopathypanel. Sources: Expert Review