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DDG2P

Gene: KCNH5

Green List (high evidence)
KCNH5 (potassium voltage-gated channel subfamily H member 5)
EnsemblGeneIds (GRCh38): ENSG00000140015
EnsemblGeneIds (GRCh37): ENSG00000140015
OMIM: 605716, Gene2Phenotype
KCNH5 is in 3 panels

3 reviews

Eleanor Williams (Genomics England Curator)

This gene currently no disease phenotype in OMIM, but checked this is the correct gene by cross checking the Ensembl ID in Gene2Phenotype and in PanelApp - they are the same so adding the gene-checked tag https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1130
Created: 16 Oct 2023, 5:31 p.m. | Last Modified: 16 Oct 2023, 5:31 p.m.
Panel Version: 3.73
Created: 16 Oct 2023, 5:31 p.m.
Last Modified: 16 Oct 2023, 5:31 p.m.
Panel version: 3.73

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for KCNH5-related epilepsy and epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMIDs: 23647072, 36307226). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00923.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease KCNH5-related epilepsy and epileptic encephalopathy is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMIDs: 23647072;36307226).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
KCNH5-related epilepsy and epileptic encephalopathy; MONDO:0957812; OMIM:620537.0

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Developmental and epileptic encephalopathy 112, OMIM:620537
OMIM
605716
Clinvar variants
Variants in KCNH5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: KCNH5 was changed from Other - please provide details in the comments to None

26 Oct 2023, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: KCNH5 were changed from INFANTILE EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 112, OMIM:620537

25 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked was removed from gene: KCNH5.

16 Oct 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: KCNH5.

4 Oct 2023, Gel status: 3

Added New Source, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to KCNH5. Publications for gene: KCNH5 were updated from 23647072 to 36307226; 23647072 Rating Changed from Red List (low evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: KCNH5 was added gene: KCNH5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNH5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNH5 were set to 23647072 Phenotypes for gene: KCNH5 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: KCNH5 was set to Other - please provide details in the comments