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  2. Intellectual disability syndromic and non-syndromic
  3. KCNH5
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Intellectual disability syndromic and non-syndromic

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 112, MIM# 620537

Publications

Created: 14 Oct 2023, 7:26 a.m.
Last Modified: 14 Oct 2023, 7:26 a.m.
Panel version: 0.5576

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Happ (2022), preprint: Screen of 893 patients with DEE found 17 patients with missense variants (16/17 de novo, 1/17 inherited). GOF mechanism suggested.
Patient phenotypes included focal/generalized seizures, Cognitive outcome for the ten individuals >5 years ranged from normal (3/10) to mild (3/10), moderate (2/10), severe (1/10) and profound (1/10) intellectual disability (ID)

p.Arg327His (7 probands), p.Arg333His (4 probands) were recurring
Sources: Literature
Created: 5 May 2022, 1:24 a.m.

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

Phenotypes
Neurodevelopmental disorder MONDO#0700092, KCNH5-related

Publications

  • https://www.medrxiv.org/content/10.1101/2022.04.26.22274147v1

Mode of pathogenicity
Other

Created: 5 May 2022, 1:24 a.m.

Panel version: 0.4736

Details

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

History Filter Activity

14 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNH5 were changed from Neurodevelopmental disorder MONDO#0700092, KCNH5-related to Developmental and epileptic encephalopathy 112, MIM# 620537

14 Oct 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNH5 were set to https://www.medrxiv.org/content/10.1101/2022.04.26.22274147v1

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: kcnh5 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: kcnh5 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: kcnh5 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: kcnh5 has been classified as Red List (Low Evidence).

5 May 2022, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: KCNH5 was added gene: KCNH5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: KCNH5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNH5 were set to https://www.medrxiv.org/content/10.1101/2022.04.26.22274147v1 Phenotypes for gene: KCNH5 were set to Neurodevelopmental disorder MONDO#0700092, KCNH5-related Mode of pathogenicity for gene: KCNH5 was set to Other Review for gene: KCNH5 was set to GREEN