1. Panels
  2. Long QT Syndrome
  3. KCNH2
STRs in panel
Prev Next
Regions in panel
Prev Next

Long QT Syndrome

Gene: KCNH2

Green List (high evidence)
KCNH2 (potassium voltage-gated channel subfamily H member 2)
EnsemblGeneIds (GRCh38): ENSG00000055118
EnsemblGeneIds (GRCh37): ENSG00000055118
OMIM: 152427, Gene2Phenotype
KCNH2 is in 9 panels

1 review

Ivan Macciocca (Victorian Clinical Genetics Services)

Green List (high evidence)

Deinitive as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group
Created: 31 May 2020, 1:56 p.m. | Last Modified: 31 May 2020, 1:56 p.m.
Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
long QT syndrome

Publications

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

Created: 31 May 2020, 1:56 p.m.
Last Modified: 31 May 2020, 1:56 p.m.
Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • long QT syndrome
OMIM
152427
Clinvar variants
Variants in KCNH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnh2 has been classified as Green List (High Evidence).

1 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNH2 were changed from to long QT syndrome

1 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNH2 were set to

1 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNH2 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: KCNH2 was added gene: KCNH2 was added to Long QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNH2 was set to Unknown