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  3. KCNJ5
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Long QT Syndrome

Gene: KCNJ5

Red List (low evidence)
KCNJ5 (potassium voltage-gated channel subfamily J member 5)
EnsemblGeneIds (GRCh38): ENSG00000120457
EnsemblGeneIds (GRCh37): ENSG00000120457
OMIM: 600734, Gene2Phenotype
KCNJ5 is in 7 panels

1 review

Ivan Macciocca (Victorian Clinical Genetics Services)

Red List (low evidence)

disputed as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group
Created: 31 May 2020, 2:09 p.m. | Last Modified: 31 May 2020, 2:09 p.m.
Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
long QT syndrome

Publications

Created: 31 May 2020, 2:09 p.m.
Last Modified: 31 May 2020, 2:09 p.m.
Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Long QT syndrome 13, MIM# 613485
Tags
disputed
OMIM
600734
Clinvar variants
Variants in KCNJ5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnj5 has been classified as Red List (Low Evidence).

1 Jun 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNJ5 were changed from to Long QT syndrome 13, MIM# 613485

1 Jun 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNJ5 were set to

1 Jun 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNJ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Jun 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: KCNJ5.

1 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnj5 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: KCNJ5 was added gene: KCNJ5 was added to Long QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNJ5 was set to Unknown