Paroxysmal central nervous system disorders

Gene: KCNJ18

Red List (low evidence)

KCNJ18 (potassium voltage-gated channel subfamily J member 18)
EnsemblGeneIds (GRCh38): ENSG00000260458
OMIM: 613236, Gene2Phenotype
KCNJ18 is in 2 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Ensembl identifier not available for GRCh37(release 82)
Created: 8 Jul 2020, 12:59 p.m. | Last Modified: 8 Jul 2020, 12:59 p.m.
Panel Version: 1.3

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Not a CNS disorder
Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22

Mode of inheritance
Unknown

Phenotypes
Thyrotoxic periodic paralysis, susceptibility to, 2, 613239

Details

Sources
Phenotypes
  • Thyrotoxic periodic paralysis, susceptibility to, 2, 613239
  • Hypokalemic Periodic Paralysis, Type 1
Tags
ensembl_ids_known_missing
OMIM
613236
Clinvar variants
Variants in KCNJ18
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jul 2020, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag ensembl_ids_known_missing tag was added to gene: KCNJ18.

24 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: kcnj18 has been classified as Red List (Low Evidence).

24 Sep 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: KCNJ18 were changed from Hypokalemic Periodic Paralysis, Type 1 to Thyrotoxic periodic paralysis, susceptibility to, 2, 613239; Hypokalemic Periodic Paralysis, Type 1

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to KCNJ18.

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to KCNJ18.

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to KCNJ18.

3 Jan 2019, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Hypokalemic Periodic Paralysis, Type 1 for gene: KCNJ18

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: KCNJ18 was added gene: KCNJ18 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red Mode of inheritance for gene: KCNJ18 was set to Publications for gene: KCNJ18 were set to 20074522 Phenotypes for gene: KCNJ18 were set to Hypokalemic Periodic Paralysis, Type 1