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Long QT syndrome v1.44 KCNJ5 Ivone Leong reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Long QT syndrome v1.38 KCNJ5 James Eden reviewed gene: KCNJ5: Rating: AMBER; Mode of pathogenicity: None; Publications: 23872692; Phenotypes: Long QT syndrome 13 (613485), Hyperaldosteronism, familial, type III (613677); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.38 KCNJ5 James Eden Deleted their review
Long QT syndrome v1.38 KCNJ5 Matthew Edwards changed review comment from: Gene currently on Royal Brompton diagnostic pane, only a few VUS reported. Low literature evidence based on small number of cases (mainly Wang et al. (2013) Heart Rhythm 10:1500-1506). However in view of some evidence, should be amber rather than red.; to: Gene currently on Royal Brompton diagnostic panel, only a few VUS reported. Low literature evidence based on small number of cases (mainly Wang et al. (2013) Heart Rhythm 10:1500-1506).
Long QT syndrome v1.26 KCNJ5 Rebecca Whittington commented on gene: KCNJ5: Hyperaldosteronism, familial, type III (OMIM 613677), Long QT syndrome 13 (OMIM 613485).
Long QT syndrome v1.25 KCNJ5 Rebecca Whittington commented on gene: KCNJ5: Literature evidence includes a large Chinese Pedigree. PMID:20560207. PMID:25322277. PMID: 24574546.
Long QT syndrome v1.24 KCNJ5 Rebecca Whittington reviewed gene: KCNJ5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.23 KCNJ5 Matthew Edwards reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Long QT syndrome v1.22 KCNJ5 Ellen McDonagh Marked gene: KCNJ5 as ready
Long QT syndrome v1.22 KCNJ5 Ellen McDonagh Gene: kcnj5 has been classified as Red List (Low Evidence).
Long QT syndrome v1.22 KCNJ5 Ellen McDonagh Classified gene: KCNJ5 as Red List (low evidence)
Long QT syndrome v1.22 KCNJ5 Ellen McDonagh Added comment: Comment on list classification: Due to limited evidence for causation of Long QT syndrome, the decision was made to demote this gene from Green to Red in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019.
Long QT syndrome v1.22 KCNJ5 Ellen McDonagh Gene: kcnj5 has been classified as Red List (Low Evidence).
Long QT syndrome v1.16 KCNJ5 Ellen McDonagh Source South West GLH was added to KCNJ5.
Long QT syndrome v1.15 KCNJ5 Ellen McDonagh edited their review of gene: KCNJ5: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Long QT syndrome v1.14 KCNJ5 Ellen McDonagh Source London South GLH was added to KCNJ5.
Long QT syndrome v1.13 KCNJ5 James Eden reviewed gene: KCNJ5: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; Phenotypes: Long QT syndrome 13 (613485), Hyperaldosteronism, familial, type III (613677); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.12 KCNJ5 Ellen McDonagh 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 19716085
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.10 KCNJ5 Oxford Medical Genetics Laboratory commented on gene: KCNJ5: This gene is linked to LQTS based on a large Chinese family with the p.Gly387Arg variant (Wang et al. (2013) HeartRhythm 10:1500_1506 Yang et al. 2010 American Journal of Human Genetics 86:872-880). However this variant is present in 47 out of 9424 South Asians in GnomAD (0.5 percent). Oxford lab classify as VUS. Therefore no evidence to support that variants in this gene cause LQTS.