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  3. HCN4
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Progressive cardiac conduction disease

Gene: HCN4

Green List (high evidence)
HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4)
EnsemblGeneIds (GRCh38): ENSG00000138622
EnsemblGeneIds (GRCh37): ENSG00000138622
OMIM: 605206, Gene2Phenotype
HCN4 is in 4 panels

4 reviews

Kate Thomson (Oxford University Hospitals Foundation Trust)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.
Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.
Panel Version: 0.46
Created: 9 Dec 2019, 1:19 p.m.
Last Modified: 9 Dec 2019, 1:19 p.m.
Panel version: 0.46

Ivone Leong (Genomics England Curator)

I don't know

Comment on phenotypes: This gene is also associated with Brugada syndrome 8 613123
Created: 2 Mar 2021, 3:34 p.m. | Last Modified: 2 Mar 2021, 3:34 p.m.
Panel Version: 1.11
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 2 Dec 2019, 10:38 a.m. | Last Modified: 2 Dec 2019, 10:38 a.m.
Panel Version: 0.30
Created: 2 Dec 2019, 10:38 a.m.
Last Modified: 2 Dec 2019, 10:38 a.m.
Panel version: 0.30

James Eden (Manchester)

Green List (high evidence)

Associated with sinus node bradycardia in OMIM and HGMD.
Created: 25 Sep 2019, 2:16 p.m. | Last Modified: 25 Sep 2019, 2:16 p.m.
Panel Version: 0.28

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Brugada syndrome 8 613123; Sick sinus syndrome 2 163800

Publications

Created: 25 Sep 2019, 2:16 p.m.
Last Modified: 25 Sep 2019, 2:16 p.m.
Panel version: 0.28

Rebecca Whittington (South West GLH)

Green List (high evidence)

Sick sinus syndrome 2 (163800)
Created: 25 Mar 2019, 4:30 p.m.
Atrial fibrillation, Bradycardia & left ventricular noncompaction cardiomyopathy; Sick Sinus Syndrome on HGMD, numerous reports. Pubmed - 28104484
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 0.18

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Sick sinus syndrome 2, OMIM:163800
OMIM
605206
Clinvar variants
Variants in HCN4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HCN4 were changed from Brugada syndrome 8 613123; Sick sinus syndrome 2 163800 to Sick sinus syndrome 2, OMIM:163800

9 Dec 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to HCN4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

2 Dec 2019, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HCN4 were changed from to Brugada syndrome 8 613123; Sick sinus syndrome 2 163800

2 Dec 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: HCN4 were set to

4 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: hcn4 has been classified as Amber List (Moderate Evidence).

21 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: HCN4 was added gene: HCN4 was added to Progressive cardiac conduction disease. Sources: South West GLH Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted