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  3. KCNH2
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Short 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

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Definitive for autosomal dominant short QT syndrome by ClinGen panel and PMID: 34557911. 18 SQTS probands reported with KCNH2 variants, 13 had one of 2 variants, 7 had p.(Thr618Ile) and 6 had p.(Asn588Lys). Gain of function mechanism reported.
Created: 11 Oct 2021, 2:09 a.m. | Last Modified: 11 Oct 2021, 2:09 a.m.
Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Short QT syndrome 1

Publications

Mode of pathogenicity
Other

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

Created: 11 Oct 2021, 2:09 a.m.
Last Modified: 11 Oct 2021, 2:09 a.m.
Panel version: 0.1

Details

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

History Filter Activity

11 Oct 2021, 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).

11 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNH2 were set to 34557911

11 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNH2 were set to 34557911

11 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNH2 were set to

11 Oct 2021, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: KCNH2 was changed from to Other

11 Oct 2021, 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 Short QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNH2 was set to Unknown