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  3. KCNJ18
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Skeletal Muscle Channelopathies

Gene: KCNJ18

Red List (low evidence)
KCNJ18 (potassium voltage-gated channel subfamily J member 18)
EnsemblGeneIds (GRCh38): ENSG00000260458
OMIM: 613236, Gene2Phenotype
KCNJ18 is in 4 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single case reported with hypokalemic periodic paralysis without hyperthyroidism with G169R. Unsure, if this variant is specific to KCNJ18 due to high homology with KCNJ12 in this region.
Sources: Expert list
Created: 30 Nov 2020, 5:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypokalemic periodic paralysis; {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239

Publications

Created: 30 Nov 2020, 5:46 a.m.

Panel version: 0.16

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Six variants reported in original publication, however note lack of segregation data and limited functional data. Subsequently, concerns raised about high nucleotide sequence homology between multiple potassium channel genes, with variant misattribution.
Sources: Expert Review
Created: 29 Nov 2020, 8:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239

Publications

Created: 29 Nov 2020, 8:34 a.m.

Panel version: Imported from Mendeliome panel version 0.5500

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Expert Review
Phenotypes
  • Hypokalemic periodic paralysis
  • {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239
OMIM
613236
Clinvar variants
Variants in KCNJ18
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnj18 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: KCNJ18 was added gene: KCNJ18 was added to Skeletal Muscle Channelopathies. Sources: Expert list Mode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ18 were set to 25882930; 27178871; 20074522; 27008341 Phenotypes for gene: KCNJ18 were set to Hypokalemic periodic paralysis; {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239 Review for gene: KCNJ18 was set to RED