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  3. KCNE3
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Skeletal Muscle Channelopathies

Gene: KCNE3

Red List (low evidence)
KCNE3 (potassium voltage-gated channel subfamily E regulatory subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000175538
EnsemblGeneIds (GRCh37): ENSG00000175538
OMIM: 604433, Gene2Phenotype
KCNE3 is in 5 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

The originally reported missense (R38H) that segregated with periodic paralysis in 2 families, is too common in gnomAD v2.1 for a variant associated with dominant disease (AF 0.003, 7 homozygotes). Kcne3(-/-) mice do not display periodic paralysis or other obvious skeletal muscle abnormalities.
Sources: Expert list
Created: 30 Nov 2020, 4:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Periodic paralysis

Publications

Created: 30 Nov 2020, 4:38 a.m.

Panel version: 0.15

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Disputed by ClinGen
Created: 1 Jun 2020, 4:08 a.m. | Last Modified: 1 Jun 2020, 4:08 a.m.
Panel Version: 0.2932

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brugada syndrome

Publications

Created: 1 Jun 2020, 4:08 a.m.
Last Modified: 1 Jun 2020, 4:08 a.m.
Panel version: Imported from Mendeliome panel version 0.2932

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Periodic paralysis
OMIM
604433
Clinvar variants
Variants in KCNE3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kcne3 has been classified as Red List (Low Evidence).

30 Nov 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KCNE3 was added gene: KCNE3 was added to Skeletal Muscle Channelopathies. Sources: Expert list Mode of inheritance for gene: KCNE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNE3 were set to 14504341; 11207363; 16449802; 15037716; 20051516; 28356343 Phenotypes for gene: KCNE3 were set to Periodic paralysis Review for gene: KCNE3 was set to RED