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Intellectual disability syndromic and non-syndromic

Gene: HCN2

Amber List (moderate evidence)

HCN2 (hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2)
EnsemblGeneIds (GRCh38): ENSG00000099822
EnsemblGeneIds (GRCh37): ENSG00000099822
OMIM: 602781, Gene2Phenotype
HCN2 is in 3 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

ICG 2023 conference
- cohort of 20 individuals where >80% had a form of intellectual disability (half were severe) and/or seizures. Some had isolated intellectual disability, especially those with a recurring de novo p.E478del.
- Patients were both mono- and biallelic.
- Monoallelic individuals had de novo missense and an inframe deletion. Biallelic individuals had a mix of missense and PTC
Sources: Other
Created: 21 Jul 2023, 4:33 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Febrile seizures, familial, 2 MIM#602477; Generalized epilepsy with febrile seizures plus, type 11 MIM#602477; {Epilepsy, idiopathic generalized, susceptibility to, 17} MIM#602477; Neurodevelopmental disorder (MONDO#0700092), HCN2-related

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), HCN2-related
OMIM
602781
Clinvar variants
Variants in HCN2
Penetrance
None
Panels with this gene

History Filter Activity

25 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hcn2 has been classified as Amber List (Moderate Evidence).

25 Jul 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HCN2 were changed from Febrile seizures, familial, 2 MIM#602477; Generalized epilepsy with febrile seizures plus, type 11 MIM#602477; {Epilepsy, idiopathic generalized, susceptibility to, 17} MIM#602477; Neurodevelopmental disorder (MONDO#0700092), HCN2-related to Neurodevelopmental disorder (MONDO#0700092), HCN2-related

25 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hcn2 has been classified as Amber List (Moderate Evidence).

21 Jul 2023, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: HCN2 was added gene: HCN2 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: HCN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HCN2 were set to Febrile seizures, familial, 2 MIM#602477; Generalized epilepsy with febrile seizures plus, type 11 MIM#602477; {Epilepsy, idiopathic generalized, susceptibility to, 17} MIM#602477; Neurodevelopmental disorder (MONDO#0700092), HCN2-related Review for gene: HCN2 was set to AMBER