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[
{
"created": "2024-05-01T12:54:28.727777Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "3.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "Panel version 3.11 has been signed off on 2024-05-01",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-01-22T16:16:51.842467Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2023-08-08T09:45:11.876948Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "3.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-08-08T09:44:55.715502Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "3.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-08-08T09:38:10.307979Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "3.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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).",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-08-01T14:59:39.053469Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "3.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-08-01T14:59:12.200839Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "3.5",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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).",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-08-01T14:26:57.180600Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "3.5",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-08-01T14:01:59.076068Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "3.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: SLC22A5 were set to 7254270; 7131143; 26190315; 29198778",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-08-01T13:56:12.487525Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "3.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-08-01T13:46:48.144780Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "3.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: SLC22A5: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-08-01T13:46:26.139743Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "3.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-08-01T12:44:12.103574Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "3.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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).",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-08-01T12:44:12.080379Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "3.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-03-22T15:37:27.330458Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "3.2",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version 3.1 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T14:30:07.198293Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "3.1",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T14:29:08.149606Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "3.0",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-06-19T17:44:21.252592Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.14",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "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",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-06-19T17:43:54.900190Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.13",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "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",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:04:59.188953Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: CACNA1C.",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:04:51.950153Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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.",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:04:29.099523Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CACNA1C: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-03-01T15:59:51.803187Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2022-01-20T12:55:27.913878Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2021-10-28T14:05:35.918730Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.9",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "removed gene:ALG10 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-10-28T13:58:25.239825Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Entity copied from Cardiac arrhythmias - previous panel v1.5",
"entity_name": "ALG10B",
"entity_type": "gene"
},
{
"created": "2021-10-28T13:58:25.170841Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ALG10B was added\ngene: ALG10B was added to Short QT syndrome. Sources: Other\nMode of inheritance for gene: ALG10B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ALG10B were set to 15280551\nPhenotypes for gene: ALG10B were set to {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688",
"entity_name": "ALG10B",
"entity_type": "gene"
},
{
"created": "2021-10-28T10:25:29.632252Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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).",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2021-10-28T10:20:30.886874Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: ALG10: The correct gene name is: ALG10B OMIM:603313",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2021-10-26T16:18:01.349186Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: ALG10.",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2020-12-24T14:38:55.511552Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-08-20T14:00:11.459282Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.6",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-13T12:00:48.284478Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: CACNA1C.",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2020-07-03T10:47:11.088937Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2020-02-19T16:21:57.983618Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-13T12:36:05.024937Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.1",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-09T14:30:52.815936Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.0",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-09T14:29:23.602524Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.27",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-04T10:02:25.630293Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.26",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-27T13:14:02.635622Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SLC4A3 as Amber List (moderate evidence)",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2019-11-27T13:14:02.630676Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Green to Amber based on the previously submitted review.",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2019-11-27T13:14:02.604501Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: slc4a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2019-11-27T13:10:57.216616Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SLC22A5 as Red List (low evidence)",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-11-27T13:10:57.213380Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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.",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-11-27T13:10:57.194681Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: slc22a5 has been classified as Red List (Low Evidence).",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-11-27T12:17:49.373468Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.23",
"user_name": "Juan Pablo Kaski",
"item_type": "entity",
"text": "reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26190315, 29198778, 31472821; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:46:25.025776Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: SLC22A5: Changed rating: RED",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:46:14.858214Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:45:31.159809Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:45:11.456654Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:45:01.404825Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:43:23.746652Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:43:18.795243Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:43:08.522578Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:42:55.380568Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-09-30T12:24:45.539969Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: MOI was corrected.",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2019-09-30T12:24:45.522434Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2019-09-30T12:24:37.729819Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: MOI was corrected.",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-09-30T12:24:37.698901Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA2D1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-09-30T12:24:17.035889Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Phenotype changed due to expert reviews.",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-09-30T12:24:17.016173Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-09-27T13:56:54.026793Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: SLC22A5: Rating: RED; Mode of pathogenicity: None; Publications: 26190315; Phenotypes: Carnitine deficiency, systemic primary 212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-09-25T13:31:33.103702Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "James Eden",
"item_type": "entity",
"text": "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.",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-09-25T13:31:03.568763Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "James Eden",
"item_type": "entity",
"text": "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.",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2019-09-25T13:30:51.489161Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: SCN5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 19862833, 30420954, 16301704; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-09-25T13:28:42.540916Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "James Eden",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-09-25T13:24:08.608871Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "James Eden",
"item_type": "entity",
"text": "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.",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2019-09-25T13:23:48.228370Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "James Eden",
"item_type": "entity",
"text": "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.",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-09-25T13:22:17.900790Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: SLC4A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 18382206, 19862833, 30420954; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2019-09-25T13:20:43.625986Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: SCN5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 19862833, 30420954, 16301704; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-09-25T13:20:13.194548Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "James Eden",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-09-25T13:19:37.726318Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19862833, 30420954, 16301704; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2019-09-25T13:16:06.927699Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "James Eden",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2019-09-25T13:15:33.046306Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: CACNA2D1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18382206, 19862833, 30420954; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-09-25T13:11:46.383516Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "James Eden",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-09-18T13:55:58.489615Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-09-18T13:49:20.296937Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2019-09-18T13:48:34.371872Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: CACNA2D1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-09-13T11:43:32.578208Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source West Midlands, Oxford and Wessex GLH was added to SLC4A3.",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2019-09-13T11:43:32.509400Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source West Midlands, Oxford and Wessex GLH was added to SLC22A5.",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-09-13T11:43:32.438932Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source West Midlands, Oxford and Wessex GLH was added to KCNQ1.",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-09-13T11:43:32.368552Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source West Midlands, Oxford and Wessex GLH was added to KCNJ2.",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-09-13T11:43:32.295459Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source West Midlands, Oxford and Wessex GLH was added to KCNH2.",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-09-13T11:43:32.219995Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source West Midlands, Oxford and Wessex GLH was added to CACNA1C.",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-09-12T13:22:25.270616Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: KCNQ1 were set to 16226079; 16301704",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-09-12T13:22:06.305569Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: KCNJ2 were set to 16226079; 16301704",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-09-12T13:21:47.117282Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: KCNH2 were set to 16226079; 16301704",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-09-12T13:21:25.063123Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CACNA1C were set to 24291113; 16301704",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-09-09T16:11:09.268828Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.15",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "List of related panels changed from to R130",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-03T08:41:18.656122Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Changed from Unknown back to Monoallelic after discussion with Anna de Burca (Genomics England).",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-09-03T08:41:18.633123Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-09-03T08:40:51.878021Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Changed from Unknown back to Monoallelic after discussion with Anna de Burca (Genomics England).",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2019-09-03T08:40:51.859424Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC4A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:41.025149Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.10",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: SCN5A: Various (not SQT)",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:41.013098Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.10",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CACNB2: Brugada syndrome 4 611876",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:41.001225Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.10",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CACNA2D1: No associated phenotype on OMIM",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:40.987543Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.10",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: SLC4A3: No associated phenotype on OMIM",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:40.976545Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.10",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: SLC22A5: Carnitine deficiency, systemic primary 212140",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:40.965527Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.10",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNQ1: Short QT syndrome 2 ",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:40.952406Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.10",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNJ2: Short QT syndrome 3 ",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:40.940296Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.10",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNH2: Short QT syndrome 2 (609621)",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:40.928404Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.10",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CACNA1C: Timothy syndrome (601005); Brugada syndrome 3 (611875)",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:47.197156Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.9",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: SCN5A: Does not appear to be associated with SQT on OMIM and HGMD",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:47.185874Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.9",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CACNB2: 1 variant reported associated with SQT on HGMD 29016797, functional evidence questions pathogenicity 25527503",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:47.173760Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.9",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CACNA2D1: 1 variant associated with SQT on HGMD. Also reported in controls 22840528. Some functional characterisation 29016797",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:47.162608Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.9",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: SLC4A3: 1 variant associated with SQT on HGMD",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:47.137815Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.9",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: SLC22A5: Not associated with SQT",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:47.126848Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.9",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNQ1: 2 reported variants on HGMD 15159330 , with functional studies 26168993, 28814790 ",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:47.114202Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.9",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNJ2: 1 report associated with LQT. 28609477",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:47.101552Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.9",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNH2: Multiple DM variants on HGMD with functional studies. ",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:47.089271Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.9",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CACNA1C: Not associated with SQT",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:55.501790Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.8",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:55.491237Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.8",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: CACNB2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:55.480361Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.8",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: CACNA2D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:55.467044Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.8",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: SLC4A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:55.455225Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.8",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: SLC22A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:55.443613Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.8",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:55.429827Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.8",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:55.416848Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.8",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:55.404543Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.8",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:15:53.606039Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: CACNA2D1 as ready",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:15:53.602122Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "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.",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:15:53.580771Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cacna2d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:15:18.519299Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: KCNQ1 as ready",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:15:18.516344Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "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.",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:15:18.489622Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: kcnq1 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:45.115765Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to SCN5A.",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:45.033856Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to CACNB2.\nMode of inheritance for gene CACNB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:44.961058Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to CACNA2D1.\nMode of inheritance for gene CACNA2D1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:44.887887Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to SLC4A3.\nMode of inheritance for gene SLC4A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:44.814906Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to SLC22A5.\nMode of inheritance for gene SLC22A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:44.734539Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to KCNQ1.\nMode 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",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:44.649942Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to KCNJ2.\nMode of inheritance for gene KCNJ2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:44.573286Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to KCNH2.\nMode of inheritance for gene KCNH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:44.492857Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to CACNA1C.",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.769154Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.6",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.756108Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.6",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: CACNA2D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.743319Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.6",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: SLC22A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.729886Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.6",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.716617Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.6",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.703260Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.6",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: KCNH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.689908Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.6",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:09.401690Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to CACNB2.",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:09.331934Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to CACNA2D1.",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:09.260743Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to SLC22A5.",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:09.189149Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to KCNQ1.",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:09.118384Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to KCNJ2.",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:09.048012Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to KCNH2.",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:08.974681Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to CACNA1C.",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.325295Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.312448Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.299724Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.286212Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.271667Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.257206Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.242713Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.229133Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.215990Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.202396Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.189163Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.176578Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.162928Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.149132Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "KCNE3",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.135064Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.121343Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.107065Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.070292Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:41.030927Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:40.985600Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:40.970459Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:40.956512Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:40.941982Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:40.928313Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "AKAP9",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:40.911803Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.4",
"user_name": "James Eden",
"item_type": "entity",
"text": "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",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:16.067164Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to TRPM4.\nAdded phenotypes Progressive familial heart block, type IB (604559) for gene: TRPM4\nPublications for gene TRPM4 were changed from to 30420954; 19862833; 16301704",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:15.987003Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to SNTA1.\nAdded phenotypes Long QT syndrome 12 (612955) for gene: SNTA1\nPublications for gene SNTA1 were changed from to 30420954; 19862833; 16301704",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:15.903795Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to SCN5A.\nAdded 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\nPublications for gene SCN5A were changed from 22490985; 29697308 to 16301704; 30420954; 22490985",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:15.826208Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to SCN4B.\nPublications for gene SCN4B were changed from to 30420954; 19862833; 16301704",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:15.746792Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to SCN3B.\nPublications for gene SCN3B were changed from to 30420954; 19862833; 16301704",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:15.677663Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to SCN1B.\nAdded 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\nPublications for gene SCN1B were changed from to 30420954; 19862833; 16301704",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:15.608082Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to SCN10A.\nAdded phenotypes Episodic pain syndrome, familial, 2 (615551) for gene: SCN10A\nPublications for gene SCN10A were changed from 30177317; 29016797 to 30420954; 19862833; 16301704",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:15.537162Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to RYR2.\nMode of inheritance for gene RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) for gene: RYR2\nPublications for gene RYR2 were changed from to 30420954; 19862833; 16301704",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:15.468597Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to PKP2.\nMode of inheritance for gene PKP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Arrhythmogenic right ventricular dysplasia 9 (609040) for gene: PKP2\nPublications for gene PKP2 were changed from 24352520; 26888179 to 30420954; 19862833; 16301704",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:15.392546Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to KCNQ1.\nMode 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\nAdded 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\nPublications for gene KCNQ1 were changed from 15159330; 16109388; 26168993; 26346102; 25974115; 29697308 to 16226079; 16301704",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:15.313297Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to KCNJ5.\nAdded phenotypes Hyperaldosteronism, familial, type III (613677); Long QT syndrome 13 (613485) for gene: KCNJ5\nPublications for gene KCNJ5 were changed from to 30420954; 19862833; 16301704",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:15.239743Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to KCNJ2.\nAdded phenotypes Atrial fibrillation, familial, 9 (613980); Andersen syndrome (170390); Short QT syndrome 3 (609622) for gene: KCNJ2\nPublications for gene KCNJ2 were changed from 15761194; 22155372; 23440193; 24794859; 22311718; 22308236; 19285083; 19710529; 25691870 to 16226079; 16301704",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:15.149738Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to KCNH2.\nAdded phenotypes Short QT syndrome 1 (609620); Long QT syndrome-2 (613688) for gene: KCNH2\nPublications for gene KCNH2 were changed from 14676148; 15828882; 19340359; 18692916; 21130771; 25974115; 29016797; 29759541; 16011830; 19439805; 22194679; 16039272; 29085299 to 16226079; 16301704",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:15.069269Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to KCNE3.\nAdded phenotypes ?Brugada syndrome 6 (613119) for gene: KCNE3\nPublications for gene KCNE3 were changed from to 16301704",
"entity_name": "KCNE3",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:14.981892Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to KCNE2.\nAdded phenotypes Long QT syndrome-6 (613693); Atrial fibrillation, familial, 4 (611493) for gene: KCNE2\nPublications for gene KCNE2 were changed from to 16301704",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:14.911877Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to KCNE1.\nAdded phenotypes Long QT syndrome-5 (613695); Jervell and Lange-Nielsen syndrome 2 (612347) for gene: KCNE1\nPublications for gene KCNE1 were changed from to 16301704; 26168993",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:14.844150Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to HCN4.\nAdded phenotypes Sick sinus syndrome 2 (163800); Brugada syndrome 8 (613123) for gene: HCN4\nPublications for gene HCN4 were changed from to 30420954; 19862833; 16301704",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:14.772378Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to GPD1L.\nAdded phenotypes Brugada syndrome 2 (611777) for gene: GPD1L\nPublications for gene GPD1L were changed from to 30420954; 19862833; 16301704",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:14.703391Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to CALM1.\nAdded phenotypes Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916) for gene: CALM1\nPublications for gene CALM1 were changed from to 30420954; 19862833; 16301704",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:14.619234Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to CACNB2.\nAdded phenotypes Brugada syndrome 4 (611876) for gene: CACNB2\nPublications for gene CACNB2 were changed from 17224476; 30027834; 29759541 to 30420954; 19862833; 16301704",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:14.549768Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to CACNA2D1.\nPublications for gene CACNA2D1 were changed from 21383000; 29759541; 29697308 to 30420954; 19862833; 16301704",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:14.480902Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to CACNA1C.\nAdded phenotypes Brugada syndrome 3 (611875); Timothy syndrome (601005) for gene: CACNA1C\nPublications for gene CACNA1C were changed from 17224476; 28427417; 28490369; 29759541; 29697308 to 24291113; 16301704",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:14.411773Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to ANK2.\nAdded phenotypes Cardiac arrhythmia, ankyrin-B-related (600919); Long QT syndrome 4 (600919) for gene: ANK2\nPublications for gene ANK2 were changed from to 30420954; 19862833; 16301704",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:14.341857Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to AKAP9.\nAdded phenotypes Long QT syndrome-11 (611820) for gene: AKAP9\nPublications for gene AKAP9 were changed from to 30420954; 19862833; 16301704",
"entity_name": "AKAP9",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:27:14.268705Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to ABCC9.\nAdded phenotypes Cardiomyopathy, dilated, 1O (608569); Atrial fibrillation, familial, 12 (614050) for gene: ABCC9\nPublications for gene ABCC9 were changed from 21383000; 15569843; 27283775 to 30420954; 19862833; 16301704",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2019-01-25T12:52:22.254812Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.2",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "reviewed gene: SLC4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2019-01-25T12:52:22.242887Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.2",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "reviewed gene: SLC22A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-01-25T12:52:22.230224Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.2",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-01-25T12:52:22.217589Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.2",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-01-25T12:52:22.202417Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.2",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "reviewed gene: KCNH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-01-25T12:52:22.188520Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.2",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2018-11-20T12:23:05.524491Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "1.0",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:03:21.948002Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.35",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:55:21.592669Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.34",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: CACNA2D1 as Amber List (moderate evidence)",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:55:21.584128Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.34",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: cacna2d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:55:00.723527Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: CACNA2D1.",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:54:36.482725Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: CACNA2D1 as Amber List (moderate evidence)",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:54:36.479919Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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.",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:54:36.459948Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: cacna2d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:43:47.111492Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Marked gene: CACNB2 as ready",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:43:47.101958Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: cacnb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:43:36.215579Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: CACNB2.",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:43:26.036282Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: CACNB2 as Amber List (moderate evidence)",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:43:26.032752Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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.",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:43:26.010684Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: cacnb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:38:54.498016Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.31",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: CACNB2 as Amber List (moderate evidence)",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:38:54.488175Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.31",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: cacnb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:26:49.337118Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: KCNJ2 were set to PMID: 15761194; 22155372; 23440193; 24794859; 22311718; 22308236; 19285083; 19710529; 25691870",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:26:35.747345Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:26:35.726960Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: KCNQ1 were set to 15159330",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:24:30.618105Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: KCNJ8 were set to 21383000; 15569843; 27283775",
"entity_name": "KCNJ8",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:16:42.169156Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CACNB2 were set to PMID: 17224476; 30027834; 29759541",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:16:22.505306Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: KCNH2 were set to PMID:14676148; 15828882; 19340359; 18692916; 21130771; 25974115; 29016797; 29759541; 16011830; 19439805; 22194679; 16039272; 29085299",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:15:59.986130Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: KCNJ8 were set to PMID: 21383000; 15569843; 27283775",
"entity_name": "KCNJ8",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:13:47.612560Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on publications: removed inclusion of PMID",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:13:47.574624Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CACNA1C were set to PMID: 17224476; 28427417; 28490369; 29759541; 29697308",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:09:14.218063Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.22",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: SCN5A as Amber List (moderate evidence)",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:09:14.213772Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.22",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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.",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2018-11-19T12:09:14.180453Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.22",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: scn5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:44:46.428569Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PKP2 were set to 24352520; 26888179",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:21:59.484335Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PKP2 were set to ",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:14:17.749373Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.18",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: SCN10A were set to PMID:30177317",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:25.572370Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.17",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Marked gene: SLC4A3 as ready",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:25.569273Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.17",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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).",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:25.541583Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.17",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: slc4a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2018-11-19T10:55:46.170231Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.17",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2018-11-19T10:55:09.352283Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.16",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: SLC22A5 were set to PMID: 7254270; 7131143; 26190315; 29198778",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2018-11-19T10:53:31.329820Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.15",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Marked gene: SCN5A as ready",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2018-11-19T10:53:31.322781Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.15",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: scn5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2018-11-19T10:53:16.954764Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.15",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: SCN5A.",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2018-11-19T10:48:41.734746Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.15",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: SCN5A as Amber List (moderate evidence)",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2018-11-19T10:48:41.726477Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.15",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: scn5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2018-11-19T10:40:26.975148Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: SCN5A were set to PMID: 22490985; 29697308",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2018-11-19T10:38:39.977315Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: SCN5A were changed from short qt; Brugada; family history of sudden death to Brugada syndrome 1 601144",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2018-11-19T10:22:29.298229Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: LRP5 were set to PMID: 30309679",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2018-11-19T10:22:17.905539Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: LRP5 as Red List (low evidence)",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2018-11-19T10:22:17.888366Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: lrp5 has been classified as Red List (Low Evidence).",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2018-11-16T14:19:39.883588Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.10",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-15T17:40:56.135114Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.9",
"user_name": "Jules Hancox",
"item_type": "entity",
"text": "gene: LRP5 was added\ngene: LRP5 was added to Short QT syndrome. Sources: Literature\nMode of inheritance for gene: LRP5 was set to Unknown\nPublications for gene: LRP5 were set to PMID: 30309679\nPhenotypes for gene: LRP5 were set to short qt\nMode of pathogenicity for gene: LRP5 was set to Other\nReview for gene: LRP5 was set to RED\nAdded 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. \nSources: Literature",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2018-11-15T14:06:59.984435Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.9",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "List of related panels changed from to ",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-15T13:41:24.932736Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.8",
"user_name": "Olivia Niblock",
"item_type": "entity",
"text": "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",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2018-11-15T13:39:27.803544Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.8",
"user_name": "Reviewer Test",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:43:47.717309Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: KCNE5: Changed rating: RED",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:43:36.446584Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: KCNE5 were changed from to atrial fibrillation; Brugada syndrome",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:43:20.239986Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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.",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:43:20.224613Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: KCNE5 were set to ",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:14:34.329398Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: CACNA2D1 as Red List (low evidence)",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:14:34.322481Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: cacna2d1 has been classified as Red List (Low Evidence).",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:14:21.349410Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.5",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CACNA2D1 were set to PMID: 21383000; 29759541; 29697308",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:29.257669Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: RANGRF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RANGRF",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:29.237257Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: PKP2: Rating: RED; Mode of pathogenicity: ; Publications: 24352520, 26888179; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:29.216738Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: NOS1AP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:29.197424Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:29.164739Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: KCNJ8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCNJ8",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:29.142597Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:29.124824Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:29.107558Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:29.090639Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: KCNE5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:29.073350Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: KCNE3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KCNE3",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:29.055125Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: KCNE2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:29.038314Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:29.016601Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: KCND3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:28.995602Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: HCN4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:28.969018Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: GPD1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:28.950560Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: DLG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DLG1",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:28.932838Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:28.904297Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: CALM3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:28.879379Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: CALM2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:28.857595Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: CALM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:28.831043Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 17224476; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:28.814130Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: ; Publications: 21383000; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:28.796931Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 30027834, 30279520; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:28.779464Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:28.762888Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: ALG10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:28.745775Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: AKAP9: Rating: RED; Mode of pathogenicity: ; Publications: 18093912; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "AKAP9",
"entity_type": "gene"
},
{
"created": "2018-11-15T12:10:28.705068Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2018-11-15T11:28:30.454793Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: SLC4A3 were set to PMID: 29167417; 29697308",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:22.024008Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to SLC4A3.\nMode of inheritance for gene SLC4A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nRating Changed from No List (delete) to Green List (high evidence)",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:21.942776Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to SLC22A5.\nMode of inheritance for gene SLC22A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nRating Changed from No List (delete) to Green List (high evidence)",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:21.877254Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: TRPM4 was added\ngene: TRPM4 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)\nMode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:21.807526Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SNTA1 was added\ngene: SNTA1 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory\nMode of inheritance for gene: SNTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:21.722362Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SLMAP was added\ngene: SLMAP was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)\nMode of inheritance for gene: SLMAP was set to ",
"entity_name": "SLMAP",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:21.641907Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Emory Genetics Laboratory was added to SCN5A.\nSource Long QT syndrome (Version 1.5) was added to SCN5A.\nSource Expert Review Green was added to SCN5A.\nSource Brugada syndrome (Version 1.7) was added to SCN5A.\nMode of inheritance for gene SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nRating Changed from No List (delete) to Green List (high evidence)",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:21.556348Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SCN4B was added\ngene: SCN4B was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory\nMode of inheritance for gene: SCN4B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:21.482098Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SCN3B was added\ngene: SCN3B was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)\nMode of inheritance for gene: SCN3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:21.413919Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SCN2B was added\ngene: SCN2B was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)\nMode of inheritance for gene: SCN2B was set to ",
"entity_name": "SCN2B",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:21.351662Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: SCN1B was added\ngene: SCN1B was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)\nMode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:21.262627Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Brugada syndrome (Version 1.7) was added to SCN10A.\nSource Expert Review Red was added to SCN10A.\nMode of inheritance for gene SCN10A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nRating Changed from No List (delete) to Red List (low evidence)",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:21.199229Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: RYR2 was added\ngene: RYR2 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5)\nMode of inheritance for gene: RYR2 was set to Unknown",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:21.140882Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: RANGRF was added\ngene: RANGRF was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)\nMode of inheritance for gene: RANGRF was set to ",
"entity_name": "RANGRF",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:21.088725Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: PKP2 was added\ngene: PKP2 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)\nMode of inheritance for gene: PKP2 was set to Unknown",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:21.018773Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: NOS1AP was added\ngene: NOS1AP was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5)\nMode of inheritance for gene: NOS1AP was set to ",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:20.941338Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Emory Genetics Laboratory was added to KCNQ1.\nSource Long QT syndrome (Version 1.5) was added to KCNQ1.\nSource Expert Review Green was added to KCNQ1.\nSource UKGTN was added to KCNQ1.\nSource Radboud University Medical Center, Nijmegen was added to KCNQ1.\nAdded phenotypes Short QT syndrome 2 609621 for gene: KCNQ1\nRating Changed from No List (delete) to Green List (high evidence)",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:20.842968Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Brugada syndrome (Version 1.7) was added to KCNJ8.\nSource Expert Review Red was added to KCNJ8.\nRating Changed from No List (delete) to Red List (low evidence)",
"entity_name": "KCNJ8",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:20.779599Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: KCNJ5 was added\ngene: KCNJ5 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5)\nMode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:20.702682Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Emory Genetics Laboratory was added to KCNJ2.\nSource Long QT syndrome (Version 1.5) was added to KCNJ2.\nSource Expert Review Green was added to KCNJ2.\nSource UKGTN was added to KCNJ2.\nSource Radboud University Medical Center, Nijmegen was added to KCNJ2.\nAdded phenotypes Short QT syndrome 3 609622 for gene: KCNJ2\nRating Changed from No List (delete) to Green List (high evidence)",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:20.610455Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source UKGTN was added to KCNH2.\nSource Radboud University Medical Center, Nijmegen was added to KCNH2.\nSource Emory Genetics Laboratory was added to KCNH2.\nSource Expert Review Green was added to KCNH2.\nSource Brugada syndrome (Version 1.7) was added to KCNH2.\nSource Long QT syndrome (Version 1.5) was added to KCNH2.\nMode of inheritance for gene KCNH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Short QT syndrome 1 609620 for gene: KCNH2\nRating Changed from No List (delete) to Green List (high evidence)",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:20.523461Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: KCNE5 was added\ngene: KCNE5 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)\nMode of inheritance for gene: KCNE5 was set to ",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:20.471905Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: KCNE3 was added\ngene: KCNE3 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Brugada syndrome (Version 1.7)\nMode of inheritance for gene: KCNE3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KCNE3",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:20.417178Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: KCNE2 was added\ngene: KCNE2 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory\nMode of inheritance for gene: KCNE2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:20.358915Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: KCNE1 was added\ngene: KCNE1 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory\nMode of inheritance for gene: KCNE1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:20.298400Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: KCND3 was added\ngene: KCND3 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)\nMode of inheritance for gene: KCND3 was set to ",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:20.241601Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: HCN4 was added\ngene: HCN4 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)\nMode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:20.170162Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: GPD1L was added\ngene: GPD1L was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)\nMode of inheritance for gene: GPD1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:20.072304Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: DLG1 was added\ngene: DLG1 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)\nMode of inheritance for gene: DLG1 was set to ",
"entity_name": "DLG1",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:19.978228Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: CAV3 was added\ngene: CAV3 was added to Short QT syndrome. Sources: Emory Genetics Laboratory,Long QT syndrome (Version 1.5),Brugada syndrome (Version 1.7)\nMode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:19.916942Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: CALM3 was added\ngene: CALM3 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5)\nMode of inheritance for gene: CALM3 was set to ",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:19.850826Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: CALM2 was added\ngene: CALM2 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5)\nMode of inheritance for gene: CALM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:19.802807Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: CALM1 was added\ngene: CALM1 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory\nMode of inheritance for gene: CALM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:19.720649Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Brugada syndrome (Version 1.7) was added to CACNB2.\nSource Expert Review Green was added to CACNB2.\nSource UKGTN was added to CACNB2.\nMode of inheritance for gene CACNB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Brugada syndrome 4 611876; Short QT syndrome 5 for gene: CACNB2\nRating Changed from No List (delete) to Green List (high evidence)",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:19.628805Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Brugada syndrome (Version 1.7) was added to CACNA2D1.\nSource Expert Review Green was added to CACNA2D1.\nSource UKGTN was added to CACNA2D1.\nMode of inheritance for gene CACNA2D1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Short QT syndrome 6 for gene: CACNA2D1\nRating Changed from No List (delete) to Green List (high evidence)",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:19.534865Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Emory Genetics Laboratory was added to CACNA1C.\nSource Long QT syndrome (Version 1.5) was added to CACNA1C.\nSource Expert Review Green was added to CACNA1C.\nSource UKGTN was added to CACNA1C.\nSource Brugada syndrome (Version 1.7) was added to CACNA1C.\nAdded phenotypes Brugada syndrome 3 611875 for gene: CACNA1C\nRating Changed from No List (delete) to Green List (high evidence)",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:19.411130Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ANK2 was added\ngene: ANK2 was added to Short QT syndrome. Sources: Emory Genetics Laboratory,Long QT syndrome (Version 1.5),Brugada syndrome (Version 1.7)\nMode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANK2 were set to Cardiac arrhythmia, ankyrin-B-related 600919; Long QT syndrome 4 600919",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:19.354547Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ALG10 was added\ngene: ALG10 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5)\nMode of inheritance for gene: ALG10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ALG10 were set to {Long QT syndrome, acquired, reduced susceptibility to} 613688",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:19.305103Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: AKAP9 was added\ngene: AKAP9 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory\nMode of inheritance for gene: AKAP9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: AKAP9 were set to ?Long QT syndrome-11 611820",
"entity_name": "AKAP9",
"entity_type": "gene"
},
{
"created": "2018-11-15T09:34:18.903416Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Brugada syndrome (Version 1.7) was added to ABCC9.\nSource Expert Review Red was added to ABCC9.\nMode of inheritance for gene ABCC9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nRating Changed from No List (delete) to Red List (low evidence)",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2018-10-26T11:15:43.072624Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.1",
"user_name": "Jules Hancox",
"item_type": "entity",
"text": "gene: ABCC9 was added\ngene: ABCC9 was added to Short QT syndrome. Sources: Literature\nMode of inheritance for gene: ABCC9 was set to Unknown\nPublications for gene: ABCC9 were set to 21383000; 15569843; 27283775\nPhenotypes for gene: ABCC9 were set to short qt; ventricular tachycardia; atrial fibrillation\nMode of pathogenicity for gene: ABCC9 was set to Other\nReview for gene: ABCC9 was set to RED\nAdded comment: Would likely be gain of function mutations.\r\n\r\nThe 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. \r\n\r\nTemplin et al (PMID: 21383000) included it in a SQTS panel as a candidate gene along with KCNJ2 (another component of the KATP channel.\r\n\r\nA number of experimental studies have shown that K(ATP) channel activation gives a SQTS phenotype. \nSources: Literature",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2018-10-26T11:10:27.436382Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.1",
"user_name": "Jules Hancox",
"item_type": "entity",
"text": "gene: KCNJ8 was added\ngene: KCNJ8 was added to Short QT syndrome. Sources: Literature\nMode of inheritance for gene: KCNJ8 was set to Unknown\nPublications for gene: KCNJ8 were set to PMID: 21383000; 15569843; 27283775\nPhenotypes for gene: KCNJ8 were set to short qt; ventricular tachycardia; atrial fibrillation\nMode of pathogenicity for gene: KCNJ8 was set to Other\nReview for gene: KCNJ8 was set to RED\nAdded comment: Would be gain of function mutations.\r\n\r\nThe 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. \r\n\r\nTemplin et al (PMID: 21383000) included it in a SQTS panel as a candidate gene along with SUR2A (another component of the KATP channel.\r\n\r\nA number of experimental studies have shown that K(ATP) channel activation gives a SQTS phenotype. \nSources: Literature",
"entity_name": "KCNJ8",
"entity_type": "gene"
},
{
"created": "2018-10-17T22:08:47.730344Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.1",
"user_name": "Jules Hancox",
"item_type": "entity",
"text": "gene: SLC4A3 was added\ngene: SLC4A3 was added to Short QT syndrome. Sources: Literature\nMode of inheritance for gene: SLC4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC4A3 were set to PMID: 29167417; 29697308\nPhenotypes for gene: SLC4A3 were set to short QT; ventricular fibrillation; cardiac arrest\nReview for gene: SLC4A3 was set to GREEN\nAdded 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. \nSources: Literature",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2018-10-17T21:47:09.503998Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.1",
"user_name": "Jules Hancox",
"item_type": "entity",
"text": "gene: SLC22A5 was added\ngene: SLC22A5 was added to Short QT syndrome. Sources: Literature\nMode of inheritance for gene: SLC22A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC22A5 were set to PMID: 7254270; 7131143; 26190315; 29198778\nPhenotypes for gene: SLC22A5 were set to arrhythmia; short QT; cardiomyopathy; primary carnitine deficiency\nReview for gene: SLC22A5 was set to GREEN\nAdded comment: SLC22A5 loss of function mutations lead to defective OCTN2, which leads to primary carnitine deficiency.\r\n\r\nPCD 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.\r\n\r\nAdditional case report: https://www.hindawi.com/journals/cric/2018/3232105/ \nSources: Literature",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2018-10-17T21:26:34.400927Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.1",
"user_name": "Jules Hancox",
"item_type": "entity",
"text": "gene: SCN10A was added\ngene: SCN10A was added to Short QT syndrome. Sources: Literature\nMode of inheritance for gene: SCN10A was set to Unknown\nPublications for gene: SCN10A were set to PMID:30177317\nPhenotypes for gene: SCN10A were set to sudden death; J wave syndrome; short QT\nReview for gene: SCN10A was set to RED\nAdded 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.\r\n\r\nThere is growing evidence for role of SCN10A in heart\r\n\r\nDespite 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 \nSources: Literature",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2018-10-17T21:13:05.253133Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.1",
"user_name": "Jules Hancox",
"item_type": "entity",
"text": "gene: SCN5A was added\ngene: SCN5A was added to Short QT syndrome. Sources: Literature\nMode of inheritance for gene: SCN5A was set to Unknown\nPublications for gene: SCN5A were set to PMID: 22490985; 29697308\nPhenotypes for gene: SCN5A were set to short qt; Brugada; family history of sudden death\nReview for gene: SCN5A was set to GREEN\nAdded comment: Evidence of causality is there, but isolated case. Arguably \"amber\" evidence.\r\n\r\nLoss of function \nSources: Literature",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2018-10-17T21:02:47.612285Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.1",
"user_name": "Jules Hancox",
"item_type": "entity",
"text": "gene: CACNA2D1 was added\ngene: CACNA2D1 was added to Short QT syndrome. Sources: Literature\nMode of inheritance for gene: CACNA2D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA2D1 were set to PMID: 21383000; 29759541; 29697308\nPhenotypes for gene: CACNA2D1 were set to short qt; aborted sudden death; Brugada syndrome\nReview for gene: CACNA2D1 was set to GREEN\nAdded comment: Responsible for SQT6 variant of the SQTS.\r\n\r\nVariable expressivity/penetrance\r\n\r\nFunctional evidence for loss of function \nSources: Literature",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2018-10-17T20:48:25.318478Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.1",
"user_name": "Jules Hancox",
"item_type": "entity",
"text": "gene: CACNB2 was added\ngene: CACNB2 was added to Short QT syndrome. Sources: Literature\nMode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNB2 were set to PMID: 17224476; 30027834; 29759541\nPhenotypes for gene: CACNB2 were set to short qt; brugada syndrome\nReview for gene: CACNB2 was set to GREEN\nAdded comment: Mutations are to an accessory subunit for L-type Ca channels. Mixed SQTS and Brugada phenotype.\r\n\r\nLoss of function mutations. \nSources: Literature",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2018-10-17T20:38:56.925374Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.1",
"user_name": "Jules Hancox",
"item_type": "entity",
"text": "gene: CACNA1C was added\ngene: CACNA1C was added to Short QT syndrome. Sources: Literature\nMode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1C were set to PMID: 17224476; 28427417; 28490369; 29759541; 29697308\nPhenotypes for gene: CACNA1C were set to short qt; brugada syndrome; syncope; scd\nReview for gene: CACNA1C was set to GREEN\nAdded comment: Encodes alpha subunit of L-type Ca channels. Mutations are loss of function and lead to a mixed short QT/Brugada phenotype \nSources: Literature",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2018-10-17T19:23:34.106219Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.1",
"user_name": "Jules Hancox",
"item_type": "entity",
"text": "gene: KCNJ2 was added\ngene: KCNJ2 was added to Short QT syndrome. Sources: Literature\nMode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ2 were set to PMID: 15761194; 22155372; 23440193; 24794859; 22311718; 22308236; 19285083; 19710529; 25691870\nPhenotypes for gene: KCNJ2 were set to short qt; atrial fibrillation; ventricular tacyarrhythmia\nMode of pathogenicity for gene: KCNJ2 was set to Other\nReview for gene: KCNJ2 was set to GREEN\nAdded comment: KCNJ2 encodes Kir2.1 protein which is a key component of cardiac inward rectifier potassium current.\r\n\r\nKCNJ2 was 3rd gene implicated in SQTS, responsible for SQTS variant 3 (SQT3)\r\n\r\nmutations are gain of function. \nSources: Literature",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2018-10-17T19:06:40.586226Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.1",
"user_name": "Jules Hancox",
"item_type": "entity",
"text": "gene: KCNH2 was added\ngene: KCNH2 was added to Short QT syndrome. Sources: Literature\nMode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNH2 were set to PMID:14676148; 15828882; 19340359; 18692916; 21130771; 25974115; 29016797; 29759541; 16011830; 19439805; 22194679; 16039272; 29085299\nPhenotypes for gene: KCNH2 were set to short qt; atrial fibrillation; ventricular fibrillation; cardiac arrest; Brugada\nMode of pathogenicity for gene: KCNH2 was set to Other\nReview for gene: KCNH2 was set to GREEN\nAdded comment: Different mutations have different degrees of penetrance: N588K and T618I are 100% penetrant; some others have incomplete penetrance.\r\n\r\nThe mutations are gain-of-function mutations that increase cardiac I(Kr) and abbreviate cardiac action potential duration leading to shortened QT intervals\r\n\r\nKCNH2 aka hERG (human Ether-a-go-go-Related Gene). Gene product: hERG or Kv11.1 \nSources: Literature",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2018-10-17T18:49:02.517924Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.1",
"user_name": "Jules Hancox",
"item_type": "entity",
"text": "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",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2017-03-14T15:04:48.381000Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "approved panel",
"entity_name": null,
"entity_type": null
}
]