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Short QT syndrome v3.12 Achchuthan Shanmugasundram Panel version 3.11 has been signed off on 2024-05-01
Short QT syndrome v3.10 SCN1B Arina Puzriakova Phenotypes for gene: SCN1B were changed from Cardiac conduction defect, nonspecific (612838); Atrial fibrillation, familial, 13 (615377); Brugada syndrome 5 (612838); Epileptic encephalopathy, early infantile, 52 (617350); Epilepsy, generalized, with febrile seizures plus, type 1 (604233) to Cardiac conduction defect, nonspecific, OMIM:612838; Brugada syndrome 5, OMIM:612838; Atrial fibrillation, familial, 13, OMIM:615377
Short QT syndrome v3.7 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Short QT syndrome v3.6 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Short QT syndrome v3.6 SLC22A5 Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Short QT syndrome v3.6 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Short QT syndrome v3.5 SLC22A5 Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few instances have been reported in cases carrying heterozygous SLC22A5 variants (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).
Short QT syndrome v3.5 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from arrhythmia; short QT; cardiomyopathy; primary carnitine deficiency; Carnitine deficiency, systemic primary 212140 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Short QT syndrome v3.4 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to 7254270; 7131143; 26190315; 29198778
Short QT syndrome v3.3 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Added comment: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few instances have been reported in cases carrying heterozygous SLC22A5 variants (PMID: 10545605; 11261427).; Changed publications to: 10545605, 11261427
Short QT syndrome v3.3 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Short QT syndrome v3.3 SLC22A5 Sarah Leigh Deleted their comment
Short QT syndrome v3.3 SLC22A5 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance is being changed from Monoallelic to Biallelic, as there is no published evidence for monoallelic inheritance of conditions associated with variants in SLC22A5 (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen).
Short QT syndrome v3.3 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Short QT syndrome v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2023-03-22
Short QT syndrome v3.1 Catherine Snow Panel version 3.0 has been signed off on 2022-11-30
Short QT syndrome v3.0 Catherine Snow promoted panel to version 3.0
Short QT syndrome v2.14 CACNA1C Eleanor Williams Phenotypes for gene: CACNA1C were changed from Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; Short QT; CACNA1C-related disorder
Short QT syndrome v2.13 CACNA1C Eleanor Williams Phenotypes for gene: CACNA1C were changed from Brugada syndrome 3 611875; syncope; brugada syndrome; scd; Brugada syndrome 3 (611875); short qt; Timothy syndrome (601005) to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder
Short QT syndrome v2.12 CACNA1C Ivone Leong Tag for-review was removed from gene: CACNA1C.
Short QT syndrome v2.12 CACNA1C Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Short QT syndrome v2.12 CACNA1C Ivone Leong commented on gene: CACNA1C: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Short QT syndrome v2.11 KCNE1 Arina Puzriakova Phenotypes for gene: KCNE1 were changed from Long QT syndrome-5 (613695); Jervell and Lange-Nielsen syndrome 2 (612347) to Jervell and Lange-Nielsen syndrome 2, OMIM:612347; Long QT syndrome 5, OMIM:613695
Short QT syndrome v2.10 KCNQ1 Sarah Leigh Phenotypes for gene: KCNQ1 were changed from Short QT syndrome 2 609621; Long QT syndrome-1 (192500); Atrial fibrillation, familial, 3 (607554); Short QT syndrome 2 (609621); Idiopathic Ventricular Fibrillation; Short QT-interval syndrome; Jervell and Lange-Nielsen syndrome (220400) to Short QT syndrome 2, OMIM:609621; Long QT syndrome-1, OMIM:192500; Atrial fibrillation, familial, 3, OMIM:607554
Short QT syndrome v2.9 Sarah Leigh removed gene:ALG10 from the panel
Short QT syndrome v2.8 ALG10B Sarah Leigh Entity copied from Cardiac arrhythmias - previous panel v1.5
Short QT syndrome v2.8 ALG10B Sarah Leigh gene: ALG10B was added
gene: ALG10B was added to Short QT syndrome. Sources: Other
Mode of inheritance for gene: ALG10B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ALG10B were set to 15280551
Phenotypes for gene: ALG10B were set to {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688
Short QT syndrome v2.7 ALG10 Sarah Leigh changed review comment from: Not associated with Short QT phenotype in OMIM or in Gen2Phen.; to: ALG10 OMIM:618355 is not associated with Short QT phenotype in OMIM or in Gen2Phen. However, ALG10B OMIM:603313 is associated with Long QT syndrome, acquired, reduced susceptibility to OMIM:613688 (PMID:15280551).
Short QT syndrome v2.7 ALG10 Sarah Leigh commented on gene: ALG10: The correct gene name is: ALG10B OMIM:603313
Short QT syndrome v2.7 ALG10 Sarah Leigh Tag new-gene-name tag was added to gene: ALG10.
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 v2.6 Ivone Leong Panel version has been signed off
Short QT syndrome v2.3 CACNA1C Ivone Leong Tag for-review tag was added to gene: CACNA1C.
Short QT syndrome v2.3 CACNA1C Zornitza Stark reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v2.3 Sarah Leigh Panel version has been signed off
Short QT syndrome v2.1 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Short QT syndrome v2.0 Ivone Leong promoted panel to version 2.0
Short QT syndrome v1.27 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Short QT syndrome v1.26 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Short QT syndrome v1.25 SLC4A3 Ivone Leong Classified gene: SLC4A3 as Amber List (moderate evidence)
Short QT syndrome v1.25 SLC4A3 Ivone Leong Added comment: Comment on list classification: Demoted from Green to Amber based on the previously submitted review.
Short QT syndrome v1.25 SLC4A3 Ivone Leong Gene: slc4a3 has been classified as Amber List (Moderate Evidence).
Short QT syndrome v1.24 SLC22A5 Ivone Leong Classified gene: SLC22A5 as Red List (low evidence)
Short QT syndrome v1.24 SLC22A5 Ivone Leong Added comment: Comment on list classification: Demoted from Green to Red as the GMS Cardiology specialist group feels that this gene should not be on this panel.
Short QT syndrome v1.24 SLC22A5 Ivone Leong Gene: slc22a5 has been classified as Red List (Low Evidence).
Short QT syndrome v1.23 SLC22A5 Juan Pablo Kaski reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26190315, 29198778, 31472821; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Short QT syndrome v1.23 SLC22A5 Ivone Leong edited their review of gene: SLC22A5: Changed rating: RED
Short QT syndrome v1.23 SLC22A5 Ivone Leong edited their review of gene: SLC22A5: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: AMBER
Short QT syndrome v1.23 SLC4A3 Ivone Leong edited their review of gene: SLC4A3: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Short QT syndrome v1.23 CACNB2 Ivone Leong edited their review of gene: CACNB2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Short QT syndrome v1.23 CACNA2D1 Ivone Leong edited their review of gene: CACNA2D1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Short QT syndrome v1.23 KCNQ1 Ivone Leong reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
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 v1.23 KCNH2 Ivone Leong reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Short QT syndrome v1.23 CACNA1C Ivone Leong reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Short QT syndrome v1.23 CACNB2 Ivone Leong Added comment: Comment on mode of inheritance: MOI was corrected.
Short QT syndrome v1.23 CACNB2 Ivone Leong Mode of inheritance for gene: CACNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v1.22 CACNA2D1 Ivone Leong Added comment: Comment on mode of inheritance: MOI was corrected.
Short QT syndrome v1.22 CACNA2D1 Ivone Leong Mode of inheritance for gene: CACNA2D1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v1.21 SLC22A5 Ivone Leong Added comment: Comment on mode of inheritance: Phenotype changed due to expert reviews.
Short QT syndrome v1.21 SLC22A5 Ivone Leong Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Short QT syndrome v1.20 SLC22A5 James Eden reviewed gene: SLC22A5: Rating: RED; Mode of pathogenicity: None; Publications: 26190315; Phenotypes: Carnitine deficiency, systemic primary 212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Short QT syndrome v1.20 CACNA2D1 James Eden changed review comment from: See table 1/figure 3 of Campuzano 2018, gene associated with Short QT syndrome.; to: See table 1/figure 3 of Campuzano 2018, gene associated with Short QT syndrome. Only one patient with Short QT syndrome tested to date in Manchester.
Short QT syndrome v1.20 CACNB2 James Eden changed review comment from: See table 1/figure 3 of Campuzano 2018, gene associated with Short QT syndrome.; to: See table 1/figure 3 of Campuzano 2018, gene associated with Short QT syndrome. Only one patient with Short QT syndrome tested to date in Manchester.
Short QT syndrome v1.20 SCN5A James Eden reviewed gene: SCN5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 19862833, 30420954, 16301704; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v1.20 SCN5A James Eden Deleted their review
Short QT syndrome v1.20 CACNB2 James Eden changed review comment from: See figure 3 of Campuzano 2018, gene associated with Short QT syndrome.; to: See table 1/figure 3 of Campuzano 2018, gene associated with Short QT syndrome.
Short QT syndrome v1.20 CACNA2D1 James Eden changed review comment from: See figure 3 of Campuzano 2018, gene associated with Short QT syndrome.; to: See table 1/figure 3 of Campuzano 2018, gene associated with Short QT syndrome.
Short QT syndrome v1.20 SLC4A3 James Eden reviewed gene: SLC4A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 18382206, 19862833, 30420954; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v1.20 SCN5A James Eden reviewed gene: SCN5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 19862833, 30420954, 16301704; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v1.20 SCN5A James Eden Deleted their review
Short QT syndrome v1.20 CACNB2 James Eden reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19862833, 30420954, 16301704; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v1.20 CACNB2 James Eden Deleted their review
Short QT syndrome v1.20 CACNA2D1 James Eden reviewed gene: CACNA2D1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18382206, 19862833, 30420954; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v1.20 CACNA2D1 James Eden Deleted their review
Short QT syndrome v1.20 SCN5A Matthew Edwards reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Short QT syndrome v1.20 CACNB2 Matthew Edwards reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Short QT syndrome v1.20 CACNA2D1 Matthew Edwards reviewed gene: CACNA2D1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Short QT syndrome v1.20 SLC4A3 Ivone Leong Source West Midlands, Oxford and Wessex GLH was added to SLC4A3.
Short QT syndrome v1.20 SLC22A5 Ivone Leong Source West Midlands, Oxford and Wessex GLH was added to SLC22A5.
Short QT syndrome v1.20 KCNQ1 Ivone Leong Source West Midlands, Oxford and Wessex GLH was added to KCNQ1.
Short QT syndrome v1.20 KCNJ2 Ivone Leong Source West Midlands, Oxford and Wessex GLH was added to KCNJ2.
Short QT syndrome v1.20 KCNH2 Ivone Leong Source West Midlands, Oxford and Wessex GLH was added to KCNH2.
Short QT syndrome v1.20 CACNA1C Ivone Leong Source West Midlands, Oxford and Wessex GLH was added to CACNA1C.
Short QT syndrome v1.19 KCNQ1 Ivone Leong Publications for gene: KCNQ1 were set to 16226079; 16301704
Short QT syndrome v1.18 KCNJ2 Ivone Leong Publications for gene: KCNJ2 were set to 16226079; 16301704
Short QT syndrome v1.17 KCNH2 Ivone Leong Publications for gene: KCNH2 were set to 16226079; 16301704
Short QT syndrome v1.16 CACNA1C Ivone Leong Publications for gene: CACNA1C were set to 24291113; 16301704
Short QT syndrome v1.15 Ivone Leong List of related panels changed from to R130
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 v1.13 SLC4A3 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 v1.13 SLC4A3 Ivone Leong Mode of inheritance for gene: SLC4A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v1.10 SCN5A Rebecca Whittington commented on gene: SCN5A: Various (not SQT)
Short QT syndrome v1.10 CACNB2 Rebecca Whittington commented on gene: CACNB2: Brugada syndrome 4 611876
Short QT syndrome v1.10 CACNA2D1 Rebecca Whittington commented on gene: CACNA2D1: No associated phenotype on OMIM
Short QT syndrome v1.10 SLC4A3 Rebecca Whittington commented on gene: SLC4A3: No associated phenotype on OMIM
Short QT syndrome v1.10 SLC22A5 Rebecca Whittington commented on gene: SLC22A5: Carnitine deficiency, systemic primary 212140
Short QT syndrome v1.10 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: Short QT syndrome 2
Short QT syndrome v1.10 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: Short QT syndrome 3
Short QT syndrome v1.10 KCNH2 Rebecca Whittington commented on gene: KCNH2: Short QT syndrome 2 (609621)
Short QT syndrome v1.10 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Timothy syndrome (601005); Brugada syndrome 3 (611875)
Short QT syndrome v1.9 SCN5A Rebecca Whittington commented on gene: SCN5A: Does not appear to be associated with SQT on OMIM and HGMD
Short QT syndrome v1.9 CACNB2 Rebecca Whittington commented on gene: CACNB2: 1 variant reported associated with SQT on HGMD 29016797, functional evidence questions pathogenicity 25527503
Short QT syndrome v1.9 CACNA2D1 Rebecca Whittington commented on gene: CACNA2D1: 1 variant associated with SQT on HGMD. Also reported in controls 22840528. Some functional characterisation 29016797
Short QT syndrome v1.9 SLC4A3 Rebecca Whittington commented on gene: SLC4A3: 1 variant associated with SQT on HGMD
Short QT syndrome v1.9 SLC22A5 Rebecca Whittington commented on gene: SLC22A5: Not associated with SQT
Short QT syndrome v1.9 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: 2 reported variants on HGMD 15159330 , with functional studies 26168993, 28814790
Short QT syndrome v1.9 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: 1 report associated with LQT. 28609477
Short QT syndrome v1.9 KCNH2 Rebecca Whittington commented on gene: KCNH2: Multiple DM variants on HGMD with functional studies.
Short QT syndrome v1.9 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Not associated with SQT
Short QT syndrome v1.8 SCN5A Rebecca Whittington reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.8 CACNB2 Rebecca Whittington reviewed gene: CACNB2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Short QT syndrome v1.8 CACNA2D1 Rebecca Whittington reviewed gene: CACNA2D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Short QT syndrome v1.8 SLC4A3 Rebecca Whittington reviewed gene: SLC4A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Short QT syndrome v1.8 SLC22A5 Rebecca Whittington reviewed gene: SLC22A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Short QT syndrome v1.8 KCNQ1 Rebecca Whittington reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v1.8 KCNH2 Rebecca Whittington reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v1.8 CACNA1C Rebecca Whittington reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v1.7 CACNA2D1 Ellen McDonagh Marked gene: CACNA2D1 as ready
Short QT syndrome v1.7 CACNA2D1 Ellen McDonagh Added comment: Comment when marking as ready: Confirmed in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 that this gene should remain Amber.
Short QT syndrome v1.7 CACNA2D1 Ellen McDonagh Gene: cacna2d1 has been classified as Amber List (Moderate Evidence).
Short QT syndrome v1.7 KCNQ1 Ellen McDonagh Marked gene: KCNQ1 as ready
Short QT syndrome v1.7 KCNQ1 Ellen McDonagh Added comment: Comment when marking as ready: Confirmed in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 that this gene should be Green.
Short QT syndrome v1.7 KCNQ1 Ellen McDonagh Gene: kcnq1 has been classified as Green List (High Evidence).
Short QT syndrome v1.7 SCN5A Ellen McDonagh Source South West GLH was added to SCN5A.
Short QT syndrome v1.7 CACNB2 Ellen McDonagh Source South West GLH was added to CACNB2.
Mode of inheritance for gene CACNB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
Short QT syndrome v1.7 CACNA2D1 Ellen McDonagh Source South West GLH was added to CACNA2D1.
Mode of inheritance for gene CACNA2D1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
Short QT syndrome v1.7 SLC4A3 Ellen McDonagh Source South West GLH was added to SLC4A3.
Mode of inheritance for gene SLC4A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
Short QT syndrome v1.7 SLC22A5 Ellen McDonagh Source South West GLH was added to SLC22A5.
Mode of inheritance for gene SLC22A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Short QT syndrome v1.7 KCNQ1 Ellen McDonagh Source South West GLH was added to KCNQ1.
Mode of inheritance for gene KCNQ1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Short QT syndrome v1.7 KCNH2 Ellen McDonagh Source South West GLH was added to KCNH2.
Mode of inheritance for gene KCNH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v1.7 CACNA1C Ellen McDonagh Source South West GLH was added to CACNA1C.
Short QT syndrome v1.6 CACNB2 Ellen McDonagh reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.6 CACNA2D1 Ellen McDonagh reviewed gene: CACNA2D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.6 SLC22A5 Ellen McDonagh reviewed gene: SLC22A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.6 KCNQ1 Ellen McDonagh reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.6 KCNJ2 Ellen McDonagh reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.6 KCNH2 Ellen McDonagh reviewed gene: KCNH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.6 CACNA1C Ellen McDonagh reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.5 CACNB2 Ellen McDonagh Source London South GLH was added to CACNB2.
Short QT syndrome v1.5 CACNA2D1 Ellen McDonagh Source London South GLH was added to CACNA2D1.
Short QT syndrome v1.5 SLC22A5 Ellen McDonagh Source London South GLH was added to SLC22A5.
Short QT syndrome v1.5 KCNQ1 Ellen McDonagh Source London South GLH was added to KCNQ1.
Short QT syndrome v1.5 KCNJ2 Ellen McDonagh Source London South GLH was added to KCNJ2.
Short QT syndrome v1.5 KCNH2 Ellen McDonagh Source London South GLH was added to KCNH2.
Short QT syndrome v1.5 CACNA1C Ellen McDonagh Source London South GLH was added to CACNA1C.
Short QT syndrome v1.4 TRPM4 James Eden reviewed gene: TRPM4: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Progressive familial heart block, type IB (604559); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 SNTA1 James Eden reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Long QT syndrome 12 (612955); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Short QT syndrome v1.4 SCN5A James Eden reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 22490985, 30420954, 16301704; Phenotypes: Atrial fibrillation, familial, 10 (614022), Brugada syndrome 1 (601144), Cardiomyopathy, dilated, 1E (601154), Heart block, nonprogressive (113900), Heart block, progressive, type IA (113900), Long QT syndrome-3 (603830), Sick sinus syndrome 1 (608567), Ventricular fibrillation, familial, 1 (603829), {Sudden infant death syndrome, susceptibility to} (272120); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 SCN4B James Eden reviewed gene: SCN4B: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 SCN3B James Eden reviewed gene: SCN3B: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 SCN1B James Eden reviewed gene: SCN1B: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Atrial fibrillation, familial, 13 (615377), Brugada syndrome 5 (612838), Cardiac conduction defect, nonspecific (612838), Epilepsy, generalized, with febrile seizures plus, type 1 (604233), Epileptic encephalopathy, early infantile, 52 (617350); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 SCN10A James Eden reviewed gene: SCN10A: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Episodic pain syndrome, familial, 2 (615551); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 RYR2 James Eden reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Arrhythmogenic right ventricular dysplasia 2 (600996), Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 PKP2 James Eden reviewed gene: PKP2: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Arrhythmogenic right ventricular dysplasia 9 (609040); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 KCNQ1 James Eden reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16226079, 16301704; Phenotypes: Long QT syndrome-1 (192500), Short QT syndrome 2 (609621), Jervell and Lange-Nielsen syndrome (220400), Atrial fibrillation, familial, 3 (607554); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Short QT syndrome v1.4 KCNJ5 James Eden reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Long QT syndrome 13 (613485), Hyperaldosteronism, familial, type III (613677); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
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 v1.4 KCNH2 James Eden reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16226079, 16301704; Phenotypes: Long QT syndrome-2 (613688), Short QT syndrome 1 (609620); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 KCNE3 James Eden reviewed gene: KCNE3: Rating: AMBER; Mode of pathogenicity: ; Publications: 16301704; Phenotypes: ?Brugada syndrome 6 (613119); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 KCNE2 James Eden reviewed gene: KCNE2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16301704; Phenotypes: Long QT syndrome-6 (613693), Atrial fibrillation, familial, 4 (611493); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Short QT syndrome v1.4 KCNE1 James Eden reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26168993, 16301704; Phenotypes: Jervell and Lange-Nielsen syndrome 2 (612347), Long QT syndrome-5 (613695); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Short QT syndrome v1.4 HCN4 James Eden reviewed gene: HCN4: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Brugada syndrome 8 (613123), Sick sinus syndrome 2 (163800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 GPD1L James Eden reviewed gene: GPD1L: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Brugada syndrome 2 (611777); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 CALM1 James Eden reviewed gene: CALM1: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Long QT syndrome 14 (616247), Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Short QT syndrome v1.4 CACNB2 James Eden reviewed gene: CACNB2: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Brugada syndrome 4 (611876); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 CACNA2D1 James Eden reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 CACNA1C James Eden reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 24291113, 16301704; Phenotypes: Brugada syndrome 3 (611875), Timothy syndrome (601005); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Short QT syndrome v1.4 ANK2 James Eden reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Cardiac arrhythmia, ankyrin-B-related (600919), Long QT syndrome 4 (600919); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Short QT syndrome v1.4 AKAP9 James Eden reviewed gene: AKAP9: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Long QT syndrome-11 (611820); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 ABCC9 James Eden reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Atrial fibrillation, familial, 12 (614050), Cardiomyopathy, dilated, 1O (608569); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.3 TRPM4 Ellen McDonagh Source North West GLH was added to TRPM4.
Added phenotypes Progressive familial heart block, type IB (604559) for gene: TRPM4
Publications for gene TRPM4 were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 SNTA1 Ellen McDonagh Source North West GLH was added to SNTA1.
Added phenotypes Long QT syndrome 12 (612955) for gene: SNTA1
Publications for gene SNTA1 were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 SCN5A Ellen McDonagh Source North West GLH was added to SCN5A.
Added phenotypes Ventricular fibrillation, familial, 1 (603829); Brugada syndrome 1 (601144); Heart block, nonprogressive (113900); Heart block, progressive, type IA (113900); {Sudden infant death syndrome, susceptibility to} (272120); Sick sinus syndrome 1 (608567); Long QT syndrome-3 (603830); Cardiomyopathy, dilated, 1E (601154); Atrial fibrillation, familial, 10 (614022) for gene: SCN5A
Publications for gene SCN5A were changed from 22490985; 29697308 to 16301704; 30420954; 22490985
Short QT syndrome v1.3 SCN4B Ellen McDonagh Source North West GLH was added to SCN4B.
Publications for gene SCN4B were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 SCN3B Ellen McDonagh Source North West GLH was added to SCN3B.
Publications for gene SCN3B were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 SCN1B Ellen McDonagh Source North West GLH was added to SCN1B.
Added phenotypes Cardiac conduction defect, nonspecific (612838); Atrial fibrillation, familial, 13 (615377); Epileptic encephalopathy, early infantile, 52 (617350); Brugada syndrome 5 (612838); Epilepsy, generalized, with febrile seizures plus, type 1 (604233) for gene: SCN1B
Publications for gene SCN1B were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 SCN10A Ellen McDonagh Source North West GLH was added to SCN10A.
Added phenotypes Episodic pain syndrome, familial, 2 (615551) for gene: SCN10A
Publications for gene SCN10A were changed from 30177317; 29016797 to 30420954; 19862833; 16301704
Short QT syndrome v1.3 RYR2 Ellen McDonagh Source North West GLH was added to RYR2.
Mode of inheritance for gene RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) for gene: RYR2
Publications for gene RYR2 were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 PKP2 Ellen McDonagh Source North West GLH was added to PKP2.
Mode of inheritance for gene PKP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Arrhythmogenic right ventricular dysplasia 9 (609040) for gene: PKP2
Publications for gene PKP2 were changed from 24352520; 26888179 to 30420954; 19862833; 16301704
Short QT syndrome v1.3 KCNQ1 Ellen McDonagh Source North West GLH was added to KCNQ1.
Mode of inheritance for gene KCNQ1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes Atrial fibrillation, familial, 3 (607554); Jervell and Lange-Nielsen syndrome (220400); Long QT syndrome-1 (192500); Short QT syndrome 2 (609621) for gene: KCNQ1
Publications for gene KCNQ1 were changed from 15159330; 16109388; 26168993; 26346102; 25974115; 29697308 to 16226079; 16301704
Short QT syndrome v1.3 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 30420954; 19862833; 16301704
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
Short QT syndrome v1.3 KCNH2 Ellen McDonagh Source North West GLH was added to KCNH2.
Added phenotypes Short QT syndrome 1 (609620); Long QT syndrome-2 (613688) for gene: KCNH2
Publications for gene KCNH2 were changed from 14676148; 15828882; 19340359; 18692916; 21130771; 25974115; 29016797; 29759541; 16011830; 19439805; 22194679; 16039272; 29085299 to 16226079; 16301704
Short QT syndrome v1.3 KCNE3 Ellen McDonagh Source North West GLH was added to KCNE3.
Added phenotypes ?Brugada syndrome 6 (613119) for gene: KCNE3
Publications for gene KCNE3 were changed from to 16301704
Short QT syndrome v1.3 KCNE2 Ellen McDonagh Source North West GLH was added to KCNE2.
Added phenotypes Long QT syndrome-6 (613693); Atrial fibrillation, familial, 4 (611493) for gene: KCNE2
Publications for gene KCNE2 were changed from to 16301704
Short QT syndrome v1.3 KCNE1 Ellen McDonagh Source North West GLH was added to KCNE1.
Added phenotypes Long QT syndrome-5 (613695); Jervell and Lange-Nielsen syndrome 2 (612347) for gene: KCNE1
Publications for gene KCNE1 were changed from to 16301704; 26168993
Short QT syndrome v1.3 HCN4 Ellen McDonagh Source North West GLH was added to HCN4.
Added phenotypes Sick sinus syndrome 2 (163800); Brugada syndrome 8 (613123) for gene: HCN4
Publications for gene HCN4 were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 GPD1L Ellen McDonagh Source North West GLH was added to GPD1L.
Added phenotypes Brugada syndrome 2 (611777) for gene: GPD1L
Publications for gene GPD1L were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 CALM1 Ellen McDonagh Source North West GLH was added to CALM1.
Added phenotypes Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916) for gene: CALM1
Publications for gene CALM1 were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 CACNB2 Ellen McDonagh Source North West GLH was added to CACNB2.
Added phenotypes Brugada syndrome 4 (611876) for gene: CACNB2
Publications for gene CACNB2 were changed from 17224476; 30027834; 29759541 to 30420954; 19862833; 16301704
Short QT syndrome v1.3 CACNA2D1 Ellen McDonagh Source North West GLH was added to CACNA2D1.
Publications for gene CACNA2D1 were changed from 21383000; 29759541; 29697308 to 30420954; 19862833; 16301704
Short QT syndrome v1.3 CACNA1C Ellen McDonagh Source North West GLH was added to CACNA1C.
Added phenotypes Brugada syndrome 3 (611875); Timothy syndrome (601005) for gene: CACNA1C
Publications for gene CACNA1C were changed from 17224476; 28427417; 28490369; 29759541; 29697308 to 24291113; 16301704
Short QT syndrome v1.3 ANK2 Ellen McDonagh Source North West GLH was added to ANK2.
Added phenotypes Cardiac arrhythmia, ankyrin-B-related (600919); Long QT syndrome 4 (600919) for gene: ANK2
Publications for gene ANK2 were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 AKAP9 Ellen McDonagh Source North West GLH was added to AKAP9.
Added phenotypes Long QT syndrome-11 (611820) for gene: AKAP9
Publications for gene AKAP9 were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 ABCC9 Ellen McDonagh Source North West GLH was added to ABCC9.
Added phenotypes Cardiomyopathy, dilated, 1O (608569); Atrial fibrillation, familial, 12 (614050) for gene: ABCC9
Publications for gene ABCC9 were changed from 21383000; 15569843; 27283775 to 30420954; 19862833; 16301704
Short QT syndrome v1.2 SLC4A3 Oxford Medical Genetics Laboratory reviewed gene: SLC4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.2 SLC22A5 Oxford Medical Genetics Laboratory reviewed gene: SLC22A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.2 KCNQ1 Oxford Medical Genetics Laboratory reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 v1.2 KCNH2 Oxford Medical Genetics Laboratory reviewed gene: KCNH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.2 CACNA1C Oxford Medical Genetics Laboratory reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.0 Sarah Leigh promoted panel to version 1.0
Short QT syndrome v0.35 KCNQ1 Sarah Leigh Phenotypes for gene: KCNQ1 were changed from b; Idiopathic Ventricular Fibrillation; Short QT-interval syndrome; Short QT syndrome 2 609621 to Idiopathic Ventricular Fibrillation; Short QT-interval syndrome; Short QT syndrome 2 609621
Short QT syndrome v0.34 CACNA2D1 Sarah Leigh Classified gene: CACNA2D1 as Amber List (moderate evidence)
Short QT syndrome v0.34 CACNA2D1 Sarah Leigh Gene: cacna2d1 has been classified as Amber List (Moderate Evidence).
Short QT syndrome v0.33 CACNA2D1 Sarah Leigh Tag watchlist tag was added to gene: CACNA2D1.
Short QT syndrome v0.33 CACNA2D1 Sarah Leigh Classified gene: CACNA2D1 as Amber List (moderate evidence)
Short QT syndrome v0.33 CACNA2D1 Sarah Leigh Added comment: Comment on list classification: Taking into consideration the Expert review green, this gene is rated amber rather than red, awaiting further reports of Short QT syndrome 6.
Short QT syndrome v0.33 CACNA2D1 Sarah Leigh Gene: cacna2d1 has been classified as Amber List (Moderate Evidence).
Short QT syndrome v0.32 CACNB2 Sarah Leigh Marked gene: CACNB2 as ready
Short QT syndrome v0.32 CACNB2 Sarah Leigh Gene: cacnb2 has been classified as Amber List (Moderate Evidence).
Short QT syndrome v0.32 CACNB2 Sarah Leigh Tag watchlist tag was added to gene: CACNB2.
Short QT syndrome v0.32 CACNB2 Sarah Leigh Classified gene: CACNB2 as Amber List (moderate evidence)
Short QT syndrome v0.32 CACNB2 Sarah Leigh Added comment: Comment on list classification: Taking into consideration the Expert review green, this gene is rated amber rather than red, awaiting further reports of Short QT syndrome 5 associated with Brugada syndrome 4.
Short QT syndrome v0.32 CACNB2 Sarah Leigh Gene: cacnb2 has been classified as Amber List (Moderate Evidence).
Short QT syndrome v0.31 CACNB2 Sarah Leigh Classified gene: CACNB2 as Amber List (moderate evidence)
Short QT syndrome v0.31 CACNB2 Sarah Leigh Gene: cacnb2 has been classified as Amber List (Moderate Evidence).
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 v0.29 KCNQ1 Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Short QT syndrome v0.29 KCNQ1 Louise Daugherty Publications for gene: KCNQ1 were set to 15159330
Short QT syndrome v0.27 KCNJ8 Louise Daugherty Publications for gene: KCNJ8 were set to 21383000; 15569843; 27283775
Short QT syndrome v0.26 CACNB2 Louise Daugherty Publications for gene: CACNB2 were set to PMID: 17224476; 30027834; 29759541
Short QT syndrome v0.25 KCNH2 Louise Daugherty Publications for gene: KCNH2 were set to PMID:14676148; 15828882; 19340359; 18692916; 21130771; 25974115; 29016797; 29759541; 16011830; 19439805; 22194679; 16039272; 29085299
Short QT syndrome v0.24 KCNJ8 Louise Daugherty Publications for gene: KCNJ8 were set to PMID: 21383000; 15569843; 27283775
Short QT syndrome v0.23 CACNA1C Louise Daugherty Added comment: Comment on publications: removed inclusion of PMID
Short QT syndrome v0.23 CACNA1C Louise Daugherty Publications for gene: CACNA1C were set to PMID: 17224476; 28427417; 28490369; 29759541; 29697308
Short QT syndrome v0.22 SCN5A Sarah Leigh Classified gene: SCN5A as Amber List (moderate evidence)
Short QT syndrome v0.22 SCN5A Sarah Leigh Added comment: Comment on list classification: Although this gene has been given an Expert review Green, to date there is only one case reported with short QT, hence the "watchlist" tag has been added and an Amber rating has been assigned.
Short QT syndrome v0.22 SCN5A Sarah Leigh Gene: scn5a has been classified as Amber List (Moderate Evidence).
Short QT syndrome v0.20 PKP2 Sarah Leigh Publications for gene: PKP2 were set to 24352520; 26888179
Short QT syndrome v0.19 PKP2 Sarah Leigh Publications for gene: PKP2 were set to
Short QT syndrome v0.18 SCN10A Sarah Leigh Publications for gene: SCN10A were set to PMID:30177317
Short QT syndrome v0.17 SLC4A3 Sarah Leigh Marked gene: SLC4A3 as ready
Short QT syndrome v0.17 SLC4A3 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. One variant was identified in two unrelated families. The variant segregates with short QT in both families and an Slc4a3 knockdown in zebrafish causes increased cardiac pHi, short QTc, and reduced systolic duration, which was rescued by wildtype SLC4A3, but not by the variant (PMID: 29167417).
Short QT syndrome v0.17 SLC4A3 Sarah Leigh Gene: slc4a3 has been classified as Green List (High Evidence).
Short QT syndrome v0.17 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from arrhythmia; short QT; cardiomyopathy; primary carnitine deficiency to arrhythmia; short QT; cardiomyopathy; primary carnitine deficiency; Carnitine deficiency, systemic primary 212140
Short QT syndrome v0.16 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to PMID: 7254270; 7131143; 26190315; 29198778
Short QT syndrome v0.15 SCN5A Sarah Leigh Marked gene: SCN5A as ready
Short QT syndrome v0.15 SCN5A Sarah Leigh Gene: scn5a has been classified as Amber List (Moderate Evidence).
Short QT syndrome v0.15 SCN5A Sarah Leigh Tag watchlist tag was added to gene: SCN5A.
Short QT syndrome v0.15 SCN5A Sarah Leigh Classified gene: SCN5A as Amber List (moderate evidence)
Short QT syndrome v0.15 SCN5A Sarah Leigh Gene: scn5a has been classified as Amber List (Moderate Evidence).
Short QT syndrome v0.14 SCN5A Sarah Leigh Publications for gene: SCN5A were set to PMID: 22490985; 29697308
Short QT syndrome v0.13 SCN5A Sarah Leigh Phenotypes for gene: SCN5A were changed from short qt; Brugada; family history of sudden death to Brugada syndrome 1 601144
Short QT syndrome v0.12 LRP5 Sarah Leigh Publications for gene: LRP5 were set to PMID: 30309679
Short QT syndrome v0.11 LRP5 Sarah Leigh Classified gene: LRP5 as Red List (low evidence)
Short QT syndrome v0.11 LRP5 Sarah Leigh Gene: lrp5 has been classified as Red List (Low Evidence).
Short QT syndrome v0.10 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease
Short QT syndrome v0.9 LRP5 Jules Hancox gene: LRP5 was added
gene: LRP5 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: LRP5 was set to Unknown
Publications for gene: LRP5 were set to PMID: 30309679
Phenotypes for gene: LRP5 were set to short qt
Mode of pathogenicity for gene: LRP5 was set to Other
Review for gene: LRP5 was set to RED
Added comment: The evidence here comes from animal model of LRP5 knockout, which results in a short QT interval via modulation of calcium channel degradation. So, in principle, this shows a novel modulator of repolarization that could be implicated in SQTS. Yet to be seen patients.
Sources: Literature
Short QT syndrome v0.9 Sarah Leigh List of related panels changed from to
Short QT syndrome v0.8 KCNQ1 Olivia Niblock reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15159330; Phenotypes: Idiopathic Ventricular Fibrillation, Short QT-interval syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.8 KCNQ1 Reviewer Test Deleted their review
Short QT syndrome v0.8 KCNE5 Sarah Leigh edited their review of gene: KCNE5: Changed rating: RED
Short QT syndrome v0.8 KCNE5 Sarah Leigh Phenotypes for gene: KCNE5 were changed from to atrial fibrillation; Brugada syndrome
Short QT syndrome v0.7 KCNE5 Sarah Leigh Added comment: Comment on publications: Report of a de novo variant in case of sudden cardiac death (female age 5), with atrial fibrillation and Brugada syndrome.
Short QT syndrome v0.7 KCNE5 Sarah Leigh Publications for gene: KCNE5 were set to
Short QT syndrome v0.6 CACNA2D1 Sarah Leigh Classified gene: CACNA2D1 as Red List (low evidence)
Short QT syndrome v0.6 CACNA2D1 Sarah Leigh Gene: cacna2d1 has been classified as Red List (Low Evidence).
Short QT syndrome v0.5 CACNA2D1 Sarah Leigh Publications for gene: CACNA2D1 were set to PMID: 21383000; 29759541; 29697308
Short QT syndrome v0.4 RANGRF Sarah Leigh reviewed gene: RANGRF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v0.4 PKP2 Sarah Leigh reviewed gene: PKP2: Rating: RED; Mode of pathogenicity: ; Publications: 24352520, 26888179; Phenotypes: ; Mode of inheritance: Unknown
Short QT syndrome v0.4 NOS1AP Sarah Leigh reviewed gene: NOS1AP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v0.4 KCNQ1 Sarah Leigh reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 KCNJ8 Sarah Leigh reviewed gene: KCNJ8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v0.4 KCNJ5 Sarah Leigh reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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 v0.4 KCNH2 Sarah Leigh reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 KCNE5 Sarah Leigh reviewed gene: KCNE5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v0.4 KCNE3 Sarah Leigh reviewed gene: KCNE3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 KCNE2 Sarah Leigh reviewed gene: KCNE2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.4 KCNE1 Sarah Leigh reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Short QT syndrome v0.4 KCND3 Sarah Leigh reviewed gene: KCND3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v0.4 HCN4 Sarah Leigh reviewed gene: HCN4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 GPD1L Sarah Leigh reviewed gene: GPD1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 DLG1 Sarah Leigh reviewed gene: DLG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v0.4 CAV3 Sarah Leigh reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.4 CALM3 Sarah Leigh reviewed gene: CALM3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v0.4 CALM2 Sarah Leigh reviewed gene: CALM2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.4 CALM1 Sarah Leigh reviewed gene: CALM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.4 CACNB2 Sarah Leigh reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 17224476; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 CACNA2D1 Sarah Leigh reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: ; Publications: 21383000; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 CACNA1C Sarah Leigh reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 30027834, 30279520; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.4 ANK2 Sarah Leigh reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.4 ALG10 Sarah Leigh reviewed gene: ALG10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 AKAP9 Sarah Leigh reviewed gene: AKAP9: Rating: RED; Mode of pathogenicity: ; Publications: 18093912; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 ABCC9 Sarah Leigh reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.3 SLC4A3 Sarah Leigh Publications for gene: SLC4A3 were set to PMID: 29167417; 29697308
Short QT syndrome v0.2 SLC4A3 Sarah Leigh Source Expert Review Green was added to SLC4A3.
Mode of inheritance for gene SLC4A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from No List (delete) to Green List (high evidence)
Short QT syndrome v0.2 SLC22A5 Sarah Leigh Source Expert Review Green was added to SLC22A5.
Mode of inheritance for gene SLC22A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from No List (delete) to Green List (high evidence)
Short QT syndrome v0.2 TRPM4 Sarah Leigh gene: TRPM4 was added
gene: TRPM4 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.2 SNTA1 Sarah Leigh gene: SNTA1 was added
gene: SNTA1 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory
Mode of inheritance for gene: SNTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.2 SLMAP Sarah Leigh gene: SLMAP was added
gene: SLMAP was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: SLMAP was set to
Short QT syndrome v0.2 SCN5A Sarah Leigh Source Emory Genetics Laboratory was added to SCN5A.
Source Long QT syndrome (Version 1.5) was added to SCN5A.
Source Expert Review Green was added to SCN5A.
Source Brugada syndrome (Version 1.7) was added to SCN5A.
Mode of inheritance for gene SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from No List (delete) to Green List (high evidence)
Short QT syndrome v0.2 SCN4B Sarah Leigh gene: SCN4B was added
gene: SCN4B was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory
Mode of inheritance for gene: SCN4B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.2 SCN3B Sarah Leigh gene: SCN3B was added
gene: SCN3B was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: SCN3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.2 SCN2B Sarah Leigh gene: SCN2B was added
gene: SCN2B was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: SCN2B was set to
Short QT syndrome v0.2 SCN1B Sarah Leigh gene: SCN1B was added
gene: SCN1B was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.2 SCN10A Sarah Leigh Source Brugada syndrome (Version 1.7) was added to SCN10A.
Source Expert Review Red was added to SCN10A.
Mode of inheritance for gene SCN10A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from No List (delete) to Red List (low evidence)
Short QT syndrome v0.2 RYR2 Sarah Leigh gene: RYR2 was added
gene: RYR2 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5)
Mode of inheritance for gene: RYR2 was set to Unknown
Short QT syndrome v0.2 RANGRF Sarah Leigh gene: RANGRF was added
gene: RANGRF was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: RANGRF was set to
Short QT syndrome v0.2 PKP2 Sarah Leigh gene: PKP2 was added
gene: PKP2 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: PKP2 was set to Unknown
Short QT syndrome v0.2 NOS1AP Sarah Leigh gene: NOS1AP was added
gene: NOS1AP was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5)
Mode of inheritance for gene: NOS1AP was set to
Short QT syndrome v0.2 KCNQ1 Sarah Leigh Source Emory Genetics Laboratory was added to KCNQ1.
Source Long QT syndrome (Version 1.5) was added to KCNQ1.
Source Expert Review Green was added to KCNQ1.
Source UKGTN was added to KCNQ1.
Source Radboud University Medical Center, Nijmegen was added to KCNQ1.
Added phenotypes Short QT syndrome 2 609621 for gene: KCNQ1
Rating Changed from No List (delete) to Green List (high evidence)
Short QT syndrome v0.2 KCNJ8 Sarah Leigh Source Brugada syndrome (Version 1.7) was added to KCNJ8.
Source Expert Review Red was added to KCNJ8.
Rating Changed from No List (delete) to Red List (low evidence)
Short QT syndrome v0.2 KCNJ5 Sarah Leigh 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
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)
Short QT syndrome v0.2 KCNH2 Sarah Leigh Source UKGTN was added to KCNH2.
Source Radboud University Medical Center, Nijmegen was added to KCNH2.
Source Emory Genetics Laboratory was added to KCNH2.
Source Expert Review Green was added to KCNH2.
Source Brugada syndrome (Version 1.7) was added to KCNH2.
Source Long QT syndrome (Version 1.5) was added to KCNH2.
Mode of inheritance for gene KCNH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Short QT syndrome 1 609620 for gene: KCNH2
Rating Changed from No List (delete) to Green List (high evidence)
Short QT syndrome v0.2 KCNE5 Sarah Leigh gene: KCNE5 was added
gene: KCNE5 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: KCNE5 was set to
Short QT syndrome v0.2 KCNE3 Sarah Leigh gene: KCNE3 was added
gene: KCNE3 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Brugada syndrome (Version 1.7)
Mode of inheritance for gene: KCNE3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.2 KCNE2 Sarah Leigh gene: KCNE2 was added
gene: KCNE2 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory
Mode of inheritance for gene: KCNE2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.2 KCNE1 Sarah Leigh gene: KCNE1 was added
gene: KCNE1 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory
Mode of inheritance for gene: KCNE1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Short QT syndrome v0.2 KCND3 Sarah Leigh gene: KCND3 was added
gene: KCND3 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: KCND3 was set to
Short QT syndrome v0.2 HCN4 Sarah Leigh gene: HCN4 was added
gene: HCN4 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.2 GPD1L Sarah Leigh gene: GPD1L was added
gene: GPD1L was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: GPD1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.2 DLG1 Sarah Leigh gene: DLG1 was added
gene: DLG1 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: DLG1 was set to
Short QT syndrome v0.2 CAV3 Sarah Leigh gene: CAV3 was added
gene: CAV3 was added to Short QT syndrome. Sources: Emory Genetics Laboratory,Long QT syndrome (Version 1.5),Brugada syndrome (Version 1.7)
Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.2 CALM3 Sarah Leigh gene: CALM3 was added
gene: CALM3 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5)
Mode of inheritance for gene: CALM3 was set to
Short QT syndrome v0.2 CALM2 Sarah Leigh gene: CALM2 was added
gene: CALM2 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5)
Mode of inheritance for gene: CALM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.2 CALM1 Sarah Leigh gene: CALM1 was added
gene: CALM1 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory
Mode of inheritance for gene: CALM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.2 CACNB2 Sarah Leigh Source Brugada syndrome (Version 1.7) was added to CACNB2.
Source Expert Review Green was added to CACNB2.
Source UKGTN was added to CACNB2.
Mode of inheritance for gene CACNB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Brugada syndrome 4 611876; Short QT syndrome 5 for gene: CACNB2
Rating Changed from No List (delete) to Green List (high evidence)
Short QT syndrome v0.2 CACNA2D1 Sarah Leigh Source Brugada syndrome (Version 1.7) was added to CACNA2D1.
Source Expert Review Green was added to CACNA2D1.
Source UKGTN was added to CACNA2D1.
Mode of inheritance for gene CACNA2D1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Short QT syndrome 6 for gene: CACNA2D1
Rating Changed from No List (delete) to Green List (high evidence)
Short QT syndrome v0.2 CACNA1C Sarah Leigh Source Emory Genetics Laboratory was added to CACNA1C.
Source Long QT syndrome (Version 1.5) was added to CACNA1C.
Source Expert Review Green was added to CACNA1C.
Source UKGTN was added to CACNA1C.
Source Brugada syndrome (Version 1.7) was added to CACNA1C.
Added phenotypes Brugada syndrome 3 611875 for gene: CACNA1C
Rating Changed from No List (delete) to Green List (high evidence)
Short QT syndrome v0.2 ANK2 Sarah Leigh gene: ANK2 was added
gene: ANK2 was added to Short QT syndrome. Sources: Emory Genetics Laboratory,Long QT syndrome (Version 1.5),Brugada syndrome (Version 1.7)
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANK2 were set to Cardiac arrhythmia, ankyrin-B-related 600919; Long QT syndrome 4 600919
Short QT syndrome v0.2 ALG10 Sarah Leigh gene: ALG10 was added
gene: ALG10 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5)
Mode of inheritance for gene: ALG10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ALG10 were set to {Long QT syndrome, acquired, reduced susceptibility to} 613688
Short QT syndrome v0.2 AKAP9 Sarah Leigh gene: AKAP9 was added
gene: AKAP9 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory
Mode of inheritance for gene: AKAP9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKAP9 were set to ?Long QT syndrome-11 611820
Short QT syndrome v0.2 ABCC9 Sarah Leigh Source Brugada syndrome (Version 1.7) was added to ABCC9.
Source Expert Review Red was added to ABCC9.
Mode of inheritance for gene ABCC9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from No List (delete) to Red List (low evidence)
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
Short QT syndrome v0.1 KCNJ8 Jules Hancox gene: KCNJ8 was added
gene: KCNJ8 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: KCNJ8 was set to Unknown
Publications for gene: KCNJ8 were set to PMID: 21383000; 15569843; 27283775
Phenotypes for gene: KCNJ8 were set to short qt; ventricular tachycardia; atrial fibrillation
Mode of pathogenicity for gene: KCNJ8 was set to Other
Review for gene: KCNJ8 was set to RED
Added comment: Would be gain of function mutations.

The rationale for including this is that whilst mutations have not yet been detected, it is a candidate gene. KCNJ8 encodes Kir6.1 which is a component of the K(ATP) channel.

Templin et al (PMID: 21383000) included it in a SQTS panel as a candidate gene along with SUR2A (another component of the KATP channel.

A number of experimental studies have shown that K(ATP) channel activation gives a SQTS phenotype.
Sources: Literature
Short QT syndrome v0.1 SLC4A3 Jules Hancox gene: SLC4A3 was added
gene: SLC4A3 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: SLC4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC4A3 were set to PMID: 29167417; 29697308
Phenotypes for gene: SLC4A3 were set to short QT; ventricular fibrillation; cardiac arrest
Review for gene: SLC4A3 was set to GREEN
Added comment: The Nature Communications paper reporting this association presents strong evidence for causal link to SQTS. This variant of the SQTS was found from exome sequencing. Mutation leads to altered pHi and decrease in intracellular chloride, which in turn abbreviates repolarization. The final mediator(s) of these actions remain to be elucidated.
Sources: Literature
Short QT syndrome v0.1 SLC22A5 Jules Hancox gene: SLC22A5 was added
gene: SLC22A5 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: SLC22A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC22A5 were set to PMID: 7254270; 7131143; 26190315; 29198778
Phenotypes for gene: SLC22A5 were set to arrhythmia; short QT; cardiomyopathy; primary carnitine deficiency
Review for gene: SLC22A5 was set to GREEN
Added comment: SLC22A5 loss of function mutations lead to defective OCTN2, which leads to primary carnitine deficiency.

PCD has been recognised for a long time. Autosomal recessive, although some heterozygotes can display symptoms. PCD impairs carnitine uptake into cardiac myocytes, leads to impaired long chain fatty acid uptake into mitochondria. It leads to a cardiomyopathy (dilated) and there is an association with arrhytomogenesis. There is now good evidence that PCD produces a short QT phenoype in humans and in an animal model, though the precise mechanism is unknown. It is important to include SLC22A5 screening on a panel for SQTS, particularly where there is evidence for cardiomyopathy, because when it is identified it can be treated with dietary L-carnitine supplementation.

Additional case report: https://www.hindawi.com/journals/cric/2018/3232105/
Sources: Literature
Short QT syndrome v0.1 SCN10A Jules Hancox gene: SCN10A was added
gene: SCN10A was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: SCN10A was set to Unknown
Publications for gene: SCN10A were set to PMID:30177317
Phenotypes for gene: SCN10A were set to sudden death; J wave syndrome; short QT
Review for gene: SCN10A was set to RED
Added comment: This is a very recent report. The evidence that the index patient had short QT is high. Causality is inferred rather than demonstrated functionally through cellular electrophysiology.

There is growing evidence for role of SCN10A in heart

Despite the rating, I would recommend including this on the gene panel as the SQTS is rare and has a low success rate with targeted genotyping. It is possible that the association with SCN10A is stronger and so inclusion would be prudent
Sources: Literature
Short QT syndrome v0.1 SCN5A Jules Hancox gene: SCN5A was added
gene: SCN5A was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: SCN5A was set to Unknown
Publications for gene: SCN5A were set to PMID: 22490985; 29697308
Phenotypes for gene: SCN5A were set to short qt; Brugada; family history of sudden death
Review for gene: SCN5A was set to GREEN
Added comment: Evidence of causality is there, but isolated case. Arguably "amber" evidence.

Loss of function
Sources: Literature
Short QT syndrome v0.1 CACNA2D1 Jules Hancox gene: CACNA2D1 was added
gene: CACNA2D1 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: CACNA2D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA2D1 were set to PMID: 21383000; 29759541; 29697308
Phenotypes for gene: CACNA2D1 were set to short qt; aborted sudden death; Brugada syndrome
Review for gene: CACNA2D1 was set to GREEN
Added comment: Responsible for SQT6 variant of the SQTS.

Variable expressivity/penetrance

Functional evidence for loss of function
Sources: Literature
Short QT syndrome v0.1 CACNB2 Jules Hancox gene: CACNB2 was added
gene: CACNB2 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNB2 were set to PMID: 17224476; 30027834; 29759541
Phenotypes for gene: CACNB2 were set to short qt; brugada syndrome
Review for gene: CACNB2 was set to GREEN
Added comment: Mutations are to an accessory subunit for L-type Ca channels. Mixed SQTS and Brugada phenotype.

Loss of function mutations.
Sources: Literature
Short QT syndrome v0.1 CACNA1C Jules Hancox gene: CACNA1C was added
gene: CACNA1C was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1C were set to PMID: 17224476; 28427417; 28490369; 29759541; 29697308
Phenotypes for gene: CACNA1C were set to short qt; brugada syndrome; syncope; scd
Review for gene: CACNA1C was set to GREEN
Added comment: Encodes alpha subunit of L-type Ca channels. Mutations are loss of function and lead to a mixed short QT/Brugada phenotype
Sources: Literature
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
Short QT syndrome v0.1 KCNH2 Jules Hancox gene: KCNH2 was added
gene: KCNH2 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNH2 were set to PMID:14676148; 15828882; 19340359; 18692916; 21130771; 25974115; 29016797; 29759541; 16011830; 19439805; 22194679; 16039272; 29085299
Phenotypes for gene: KCNH2 were set to short qt; atrial fibrillation; ventricular fibrillation; cardiac arrest; Brugada
Mode of pathogenicity for gene: KCNH2 was set to Other
Review for gene: KCNH2 was set to GREEN
Added comment: Different mutations have different degrees of penetrance: N588K and T618I are 100% penetrant; some others have incomplete penetrance.

The mutations are gain-of-function mutations that increase cardiac I(Kr) and abbreviate cardiac action potential duration leading to shortened QT intervals

KCNH2 aka hERG (human Ether-a-go-go-Related Gene). Gene product: hERG or Kv11.1
Sources: Literature
Short QT syndrome v0.1 KCNQ1 Jules Hancox reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 15159330, 16109388, 26168993, 26346102, 25974115, 29697308; Phenotypes: short qt, atrial fibrillation, sinus bradycardia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome Ellen McDonagh approved panel