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  3. HCN4
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Aortopathy_Connective Tissue Disorders

Gene: HCN4

Amber List (moderate evidence)
HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4)
EnsemblGeneIds (GRCh38): ENSG00000138622
EnsemblGeneIds (GRCh37): ENSG00000138622
OMIM: 605206, Gene2Phenotype
HCN4 is in 8 panels

1 review

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

Created: 13 Jul 2020, 5:24 a.m.

Panel version: 0.153

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • Sick sinus syndrome 2 with cardiac noncompaction and ascending aorta dilation
OMIM
605206
Clinvar variants
Variants in HCN4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: HCN4 was added gene: HCN4 was added to Aortopathy_Connective Tissue Disorders. Sources: ClinGen Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HCN4 were set to 30071989; 27173043 Phenotypes for gene: HCN4 were set to Sick sinus syndrome 2 with cardiac noncompaction and ascending aorta dilation Review for gene: HCN4 was set to AMBER