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Genetic epilepsy syndromes

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 5 panels

7 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

de novo missense variants, thought to cause a gain of function (PMID: 24747641). AD EIEE 24. Nava et al, 2014 - 6 unrelated patients of European descent - 6 diff het missnese mutations. 5 confirmed de novo. Electrophysiological patch-clamp studies in CHO cells showed divergent effects of the mutations. Some had a major effect on channel gating resulting in a GOF, whereas no current was recorded for others. Marini et al, 2018 - cohort of 33 unpuplisahed patients with novel pathogenic or likely pathogenic variants. 19 probands carrying 14 diff de novo variants and 4 families with dom inherited variants segregating with epilepsy in 14 individuals, but not penetrant in 6 individuals. Functional analysis on 3 variants undertaken.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 24,615871

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

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.
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
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 24
OMIM
602780
Clinvar variants
Variants in HCN1
Penetrance
None
Publications
  • Nava et al (2014) Nature Genet 46(6). 640-648
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to HCN1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to HCN1.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to HCN1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to HCN1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

HCN1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

HCN1 was created by Sarah Leigh