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  3. KCNJ8
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Brugada syndrome

Gene: KCNJ8

Red List (low evidence)
KCNJ8 (potassium voltage-gated channel subfamily J member 8)
EnsemblGeneIds (GRCh38): ENSG00000121361
EnsemblGeneIds (GRCh37): ENSG00000121361
OMIM: 600935, Gene2Phenotype
KCNJ8 is in 5 panels

1 review

Ivan Macciocca (Victorian Clinical Genetics Services)

Red List (low evidence)

disputed by ClinGen (21/11/2017) and as reported in Circulation. 2018;138:1195–1205 (PMID: 29959160)
Created: 31 May 2020, 12:34 p.m. | Last Modified: 31 May 2020, 12:34 p.m.
Panel Version: 0.13

Publications

Created: 31 May 2020, 12:34 p.m.
Last Modified: 31 May 2020, 12:34 p.m.
Panel version: 0.13

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Brugada syndrome
Tags
disputed
OMIM
600935
Clinvar variants
Variants in KCNJ8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNJ8 were changed from to Brugada syndrome

1 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnj8 has been classified as Red List (Low Evidence).

1 Jun 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: KCNJ8.

1 Jun 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNJ8 were set to

1 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnj8 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNJ8 was added gene: KCNJ8 was added to Brugada syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNJ8 was set to Unknown