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Genetic Epilepsy

Gene: KCNAB3

Red List (low evidence)
KCNAB3 (potassium voltage-gated channel subfamily A regulatory beta subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000170049
EnsemblGeneIds (GRCh37): ENSG00000170049
OMIM: 604111, Gene2Phenotype
KCNAB3 is in 2 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 37396552 - sudden cardiac death cohort, single Chinese proband with a de novo PTC. Functional studies showed transfected cells had delayed inactivation of currents and incomplete decay,

Some very common PTCs in gnomAD v4 (20-230 hets each)

PMID: 36345448 - Functional characterization of epilepsy variant (below) using an adult mouse model. Patch clamp suggests reduced total potassium currents

PMID: 32990398 - Missense variant identified in a single Han Chinese family with febrile seizures plus. Three affected carriers and one unaffected carrier. Patch clamp functional studies indicates that the variant accelerates the inactivation of the potassium channels.
Created: 11 Jan 2024, 11:38 p.m. | Last Modified: 11 Jan 2024, 11:38 p.m.
Panel Version: 0.2151

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

Phenotypes
Neurodevelopmental disorder (MONDO#0700092), KCNAB3-related

Publications

Created: 11 Jan 2024, 11:38 p.m.
Last Modified: 11 Jan 2024, 11:38 p.m.
Panel version: 0.2151

Daniel Flanagan (Victorian Clinical Genetics Services)

Red List (low evidence)

Missense variant identified in a single Han Chinese family with febrile seizures plus. Three affected carriers and one unaffected carrier. Patch clamp functional studies indicates that the variant accelerates the inactivation of the potassium channels.
Sources: Expert list
Created: 17 Oct 2021, 11:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
febrile seizures; afebrile seizure; genetic epilepsy with febrile seizures plus

Publications

Created: 17 Oct 2021, 11:38 p.m.

Panel version: 0.1317

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), KCNAB3-related
OMIM
604111
Clinvar variants
Variants in KCNAB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jan 2024, Gel status: 1

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: KCNAB3 were set to PMID: 32990398

11 Jan 2024, Gel status: 1

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: KCNAB3 were changed from febrile seizures; afebrile seizure; genetic epilepsy with febrile seizures plus to Neurodevelopmental disorder (MONDO#0700092), KCNAB3-related

18 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnab3 has been classified as Red List (Low Evidence).

18 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnab3 has been classified as Red List (Low Evidence).

17 Oct 2021, Gel status: 0

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

Daniel Flanagan (Victorian Clinical Genetics Services)

gene: KCNAB3 was added gene: KCNAB3 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: KCNAB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNAB3 were set to PMID: 32990398 Phenotypes for gene: KCNAB3 were set to febrile seizures; afebrile seizure; genetic epilepsy with febrile seizures plus Review for gene: KCNAB3 was set to RED