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Genetic epilepsy syndromes

Gene: KCNH5

Red List (low evidence)

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

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Kept rating as Red based on Red post-Webex review from Helen Lord.
Created: 9 Sep 2019, 10:24 a.m. | Last Modified: 9 Sep 2019, 10:24 a.m.
Panel Version: 1.315
Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was added to the Genetic epilepsy syndromes panel after the initial panel was reviewed by West Midlands, Oxford and Wessex GLH: this gene was therefore reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Created: 5 Sep 2019, 2:26 p.m. | Last Modified: 5 Sep 2019, 2:26 p.m.
Panel Version: 1.262

Helen Lord (Oxford Medical Genetics Laboratories)

Red List (low evidence)

1 case reported on OMIM - missense change R327H in a boy who developed intractable tonic clonic seizures - Veeramah et al, 2013 (23647072). Structural modelling by Yang et al, 2013 (24133262) suggests it would destabilise the resting and early activation states of the KCNH5 channel by weakening ionic interactions and this favouring channel opening (GLF) - OMIM say it is a VUS as its contribution to epileptic encephalpathy is not confirmed. No other cases in HGMDPro.
Created: 5 Sep 2019, 2:22 p.m. | Last Modified: 5 Sep 2019, 2:22 p.m.
Panel Version: 1.261

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

Catherine Snow (Genomics England)

There is currently only one paper implicating KCNH5 in epilepsy, but it is included on a diagnostic panel (Amplexa CHE-114 epilepsy panel ). Veeramah et al (PMID:23647072) identified an individual with a hetrozygous denovo missense mutation (c.980G>A or p.R327H). However no further disease gene implications have been reported since.
Created: 4 Jul 2019, 12:30 p.m. | Last Modified: 8 Jul 2019, 2:47 p.m.
Panel Version: 0.62

Deb Pal (King's College London)

Red List (low evidence)

Amplexa CHE-114 epilepsy panel
Sources: Expert list
Created: 21 Feb 2019, 2:05 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
epilepsy

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Red
  • Expert Review
Phenotypes
  • epilepsy
OMIM
605716
Clinvar variants
Variants in KCNH5
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to KCNH5.

17 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to KCNH5.

9 Sep 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: KCNH5 were set to 23647072

22 Jul 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Catherine Snow (Genomics England)

Source Expert Review Red was added to KCNH5. Mode of inheritance for gene KCNH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes epilepsy for gene: KCNH5 Rating Changed from No List (delete) to Red List (low evidence)

21 Feb 2019, Gel status: 0

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

Deb Pal (King's College London)

gene: KCNH5 was added gene: KCNH5 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: KCNH5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNH5 were set to 23647072 Phenotypes for gene: KCNH5 were set to epilepsy Penetrance for gene: KCNH5 were set to unknown Review for gene: KCNH5 was set to RED gene: KCNH5 was marked as current diagnostic