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| Short QT syndrome v2.7 | KCNJ2 | Arina Puzriakova Phenotypes for gene: KCNJ2 were changed from Atrial fibrillation, familial, 9 (613980); Short QT syndrome 3 609622; Short QT syndrome 3 (609622); Andersen syndrome (170390); ventricular tacyarrhythmia; short qt; atrial fibrillation to Short QT syndrome 3, OMIM:609622; Short QT syndrome type 3, MONDO:0012314; Atrial fibrillation, familial, 9, OMIM:613980; Atrial fibrillation, familial, 9, MONDO:0013513; Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.23 | KCNJ2 | Ivone Leong edited their review of gene: KCNJ2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.20 | KCNJ2 | Ivone Leong Source West Midlands, Oxford and Wessex GLH was added to KCNJ2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.18 | KCNJ2 | Ivone Leong Publications for gene: KCNJ2 were set to 16226079; 16301704 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.14 | KCNJ2 | Ivone Leong Added comment: Comment on mode of inheritance: Changed from Unknown back to Monoallelic after discussion with Anna de Burca (Genomics England). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.14 | KCNJ2 | Ivone Leong Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.10 | KCNJ2 | Rebecca Whittington commented on gene: KCNJ2: Short QT syndrome 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.9 | KCNJ2 | Rebecca Whittington commented on gene: KCNJ2: 1 report associated with LQT. 28609477 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.8 | KCNJ2 | Rebecca Whittington reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.7 | KCNJ2 |
Ellen McDonagh Source South West GLH was added to KCNJ2. Mode of inheritance for gene KCNJ2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown |
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| Short QT syndrome v1.6 | KCNJ2 | Ellen McDonagh reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.5 | KCNJ2 | Ellen McDonagh Source London South GLH was added to KCNJ2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.4 | KCNJ2 | James Eden reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16226079, 16301704; Phenotypes: Andersen syndrome (170390), Atrial fibrillation, familial, 9 (613980), Short QT syndrome 3 (609622); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.3 | KCNJ2 |
Ellen McDonagh Source North West GLH was added to KCNJ2. Added phenotypes Atrial fibrillation, familial, 9 (613980); Andersen syndrome (170390); Short QT syndrome 3 (609622) for gene: KCNJ2 Publications for gene KCNJ2 were changed from 15761194; 22155372; 23440193; 24794859; 22311718; 22308236; 19285083; 19710529; 25691870 to 16226079; 16301704 |
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| Short QT syndrome v1.2 | KCNJ2 | Oxford Medical Genetics Laboratory reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.30 | KCNJ2 | Louise Daugherty Publications for gene: KCNJ2 were set to PMID: 15761194; 22155372; 23440193; 24794859; 22311718; 22308236; 19285083; 19710529; 25691870 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.4 | KCNJ2 | Sarah Leigh reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.2 | KCNJ2 |
Sarah Leigh Source Emory Genetics Laboratory was added to KCNJ2. Source Long QT syndrome (Version 1.5) was added to KCNJ2. Source Expert Review Green was added to KCNJ2. Source UKGTN was added to KCNJ2. Source Radboud University Medical Center, Nijmegen was added to KCNJ2. Added phenotypes Short QT syndrome 3 609622 for gene: KCNJ2 Rating Changed from No List (delete) to Green List (high evidence) |
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| Short QT syndrome v0.1 | ABCC9 |
Jules Hancox gene: ABCC9 was added gene: ABCC9 was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: ABCC9 was set to Unknown Publications for gene: ABCC9 were set to 21383000; 15569843; 27283775 Phenotypes for gene: ABCC9 were set to short qt; ventricular tachycardia; atrial fibrillation Mode of pathogenicity for gene: ABCC9 was set to Other Review for gene: ABCC9 was set to RED Added comment: Would likely be gain of function mutations. The rationale for including this is that whilst mutations have not yet been detected, it is a candidate gene. ABCC9 encodes Sur2A and Sur2B which are components of the K(ATP) channel. Templin et al (PMID: 21383000) included it in a SQTS panel as a candidate gene along with KCNJ2 (another component of the KATP channel. A number of experimental studies have shown that K(ATP) channel activation gives a SQTS phenotype. Sources: Literature |
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| Short QT syndrome v0.1 | KCNJ2 |
Jules Hancox gene: KCNJ2 was added gene: KCNJ2 was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ2 were set to PMID: 15761194; 22155372; 23440193; 24794859; 22311718; 22308236; 19285083; 19710529; 25691870 Phenotypes for gene: KCNJ2 were set to short qt; atrial fibrillation; ventricular tacyarrhythmia Mode of pathogenicity for gene: KCNJ2 was set to Other Review for gene: KCNJ2 was set to GREEN Added comment: KCNJ2 encodes Kir2.1 protein which is a key component of cardiac inward rectifier potassium current. KCNJ2 was 3rd gene implicated in SQTS, responsible for SQTS variant 3 (SQT3) mutations are gain of function. Sources: Literature |
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