Incidentalome

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 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported with variants in this gene and sick sinus syndrome.
Created: 10 Aug 2022, 4:27 a.m. | Last Modified: 10 Aug 2022, 4:27 a.m.
Panel Version: 0.106

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sick sinus syndrome 2, MIM# 163800

Publications

Bryony Thompson (Royal Melbourne Hospital)

I don't know

PMID: 27173043 - Dilation of the ascending aorta was detected in 20 of 26 (77%) HCN4 mutation-positive cases from 7 unrelated families in whom images could be obtained to assess the ascending aorta.
PMID: 30071989 - Classified as Limited by the HTAAD GCEP, downgraded from Moderate due to the absence of aortic dissection and lack of longitudinal data on aortic growth. Categorised as uncertain, because it is a recently reported gene-disease association.
Sources: ClinGen
Created: 13 Jul 2020, 5:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sick sinus syndrome 2 with cardiac noncompaction and ascending aorta dilation

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
  • Victorian Clinical Genetics Services
Phenotypes
  • Sick sinus syndrome 2, MIM# 163800
  • Aortopathy
Tags
cardiac
OMIM
605206
Clinvar variants
Variants in HCN4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Aug 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag cardiac tag was added to gene: HCN4.

10 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hcn4 has been classified as Green List (High Evidence).

10 Aug 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HCN4 were changed from to Sick sinus syndrome 2, MIM# 163800; Aortopathy

10 Aug 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HCN4 were set to

10 Aug 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HCN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HCN4 was added gene: HCN4 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HCN4 was set to Unknown