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  3. KCNJ5
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Short 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 6 panels

2 reviews

James Eden (Manchester)

Red List (low evidence)

Gene currently tested by alternative panel, very few short QT referrals to date. 16 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: gene not curated (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Long QT syndrome 13 (613485); Hyperaldosteronism, familial, type III (613677)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 1.4

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Not associated with Short QT phenotype in OMIM or in Gen2Phen. Listed on the Long QT syndrome panel (Version 1.5).
Created: 15 Nov 2018, 12:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 15 Nov 2018, 12:10 p.m.

Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • North West GLH
  • Long QT syndrome (Version 1.5)
Phenotypes
  • Hyperaldosteronism, familial, type III (613677)
  • Long QT syndrome 13 (613485)
OMIM
600734
Clinvar variants
Variants in KCNJ5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Feb 2019, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to KCNJ5. Added phenotypes Hyperaldosteronism, familial, type III (613677); Long QT syndrome 13 (613485) for gene: KCNJ5 Publications for gene KCNJ5 were changed from to 30420954; 19862833; 16301704

20 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Not associated with Short QT p

15 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

gene: KCNJ5 was added gene: KCNJ5 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5) Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted