Fetal anomalies
Gene: HCN1

HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1)
EnsemblGeneIds (GRCh38): ENSG00000164588
EnsemblGeneIds (GRCh37): ENSG00000164588
OMIM: 602780, Gene2Phenotype
HCN1 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HCN1 gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.

DDG2P rating in original PAGE list: Confirmed for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
Created: 11 Dec 2018, 9:05 a.m.

In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.134

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
PAGE DD-Gene2Phenotype

Phenotypes

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

OMIM

602780

Clinvar variants

Variants in HCN1

Penetrance

None

Panels with this gene

History Filter Activity

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to HCN1. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: HCN1 was added gene: HCN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HCN1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

Fetal anomalies Gene: HCN1