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[
{
"created": "2024-05-01T12:29:29.231443Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "3.8",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel version 3.7 has been signed off on 2024-05-01",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-23T16:38:40.664130Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "3.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: KCNH2 were set to 19716085; 31358886; 26888179; 7889573; 9927399",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2023-03-22T15:33:21.682112Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"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": "2022-11-30T13:09:44.489194Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "3.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T13:07:28.806911Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "3.0",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-15T13:27:26.955320Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.34",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: CALM2 were changed from Long QT syndrome 15 to Long QT syndrome 15, OMIM:616249; long QT syndrome 15, MONDO:0014550",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2022-11-15T13:25:27.675421Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CALM2 were set to ",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2022-06-19T17:44:48.855091Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.32",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1C were changed from Brugada syndrome 3 (611875); 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": "2022-03-03T11:52:57.746887Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: KCNE1.",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:52:41.565085Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: TRDN.",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:52:02.476799Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: KCNE2.",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:51:28.133252Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: KCNE2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:51:28.117979Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: KCNE1: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:51:28.104036Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TRDN: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:51:23.447099Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to KCNE2.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2022-03-01T16:00:03.955253Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.29",
"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": "2021-10-28T14:25:24.057424Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.28",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG10 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2021-10-28T14:14:50.129889Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.27",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ALG10 were set to 15280551",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2021-10-28T14:13:33.647922Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.26",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: ALG10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2021-10-28T14:11:04.173404Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.26",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: ALG10 were changed from {Acquired long QT syndrome, reduced susceptibility to}, 613688 to Progressive myoclonus epilepsy; CDG",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2021-10-28T14:07:52.108730Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.25",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag new-gene-name was removed from gene: ALG10.",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2021-10-28T13:58:24.403570Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.25",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Entity copied from Cardiac arrhythmias - previous panel v1.5",
"entity_name": "ALG10B",
"entity_type": "gene"
},
{
"created": "2021-10-28T13:58:24.317697Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.25",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ALG10B was added\ngene: ALG10B was added to Long 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": "2021-10-28T10:22:59.132813Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.24",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ALG10 were set to ",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2021-10-26T16:18:15.686989Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.23",
"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": "2021-09-28T09:41:49.225793Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TECRL as Amber List (moderate evidence)",
"entity_name": "TECRL",
"entity_type": "gene"
},
{
"created": "2021-09-28T09:41:49.222783Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from Red to Amber to match the gene rating suggested in my previous review.",
"entity_name": "TECRL",
"entity_type": "gene"
},
{
"created": "2021-09-28T09:41:49.198286Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: tecrl has been classified as Amber List (Moderate Evidence).",
"entity_name": "TECRL",
"entity_type": "gene"
},
{
"created": "2020-12-24T14:39:34.306988Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ2 were changed from Andersen syndrome (170390); Atrial fibrillation, familial, 9 (613980); ANDERSEN SYNDROME (170390); LONG QT SYNDROME 7 (170390); Short QT syndrome 3 (609622) 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": "2020-08-20T13:36:37.858515Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.21",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-19T09:27:27.302610Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TRDN as Amber List (moderate evidence)",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2020-08-19T09:27:27.291164Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been downgraded from Green to Amber at the request of NHS England following discussion at a Rare Disease workshop.",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2020-08-19T09:27:27.257057Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: trdn has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2020-08-19T09:05:28.071918Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: TRDN.",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2020-06-12T14:18:42.363427Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: KCNE1: Penetrance for this gene has been changed from \"complete\" to \"incomplete\" based on PMID: 11692163 and also review from Claire Kirk (UCD).",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-06-12T14:18:18.329489Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source South West GLH was removed from KCNE1.\nSource London South GLH was removed from KCNE1.\nSource North West GLH was removed from KCNE1.\nPenetrance for gene KCNE1 was set from to Complete",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-06-12T14:17:48.684397Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Penetrance for this gene has been changed from \"complete\" to \"incomplete\" based on PMID: 9927399 and also review from Claire Kirk (UCD).; to: Penetrance for this gene has been changed from \"complete\" to \"incomplete\" based on PMID: 29728395 and also review from Claire Kirk (UCD).",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-06-12T14:17:10.830928Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: KCNE1 were set to 19716085; 31983240",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-06-12T14:12:44.567398Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: SCN5A: Penetrance for this gene has been changed from \"complete\" to \"incomplete\" based on PMID: 9927399 and also review from Claire Kirk (UCD).",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-06-12T14:12:39.503537Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source South West GLH was removed from SCN5A.\nSource London South GLH was removed from SCN5A.\nSource North West GLH was removed from SCN5A.\nPhenotypes for gene: SCN5A were changed from 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 ; Long QT syndrome-3 (603830); Cardiomyopathy, dilated, 1E (601154); Atrial fibrillation, familial, 10 (614022) to 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; Long QT syndrome-3 (603830); Cardiomyopathy, dilated, 1E (601154); Atrial fibrillation, familial, 10 (614022)\nPenetrance for gene SCN5A was set from to Complete",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-06-12T14:12:11.953091Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: SCN5A were set to 19716085; 29798782; 26888179; 7889574",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-06-12T13:53:41.477055Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: KCNQ1 were set to 19716085; 26888179; 8528244",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2020-06-12T13:53:30.357549Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: KCNH2 were set to 19716085; 31358886; 26888179; 7889573",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2020-06-12T13:53:13.615948Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: KCNH2: Penetrance for this gene has been changed from \"complete\" to \"incomplete\" based on PMID: 9927399 and also review from Claire Kirk (UCD).",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2020-06-12T13:53:08.727753Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source South West GLH was removed from KCNH2.\nSource London South GLH was removed from KCNH2.\nSource North West GLH was removed from KCNH2.\nPenetrance for gene KCNH2 was set from to Complete",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2020-06-12T13:52:46.083364Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: KCNQ1: Added comment: Penetrance for this gene has been changed from \"complete\" to \"incomplete\" based on PMID: 9927399 and also review from Claire Kirk (UCD).; Changed publications: 9927399",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2020-06-12T13:51:51.640252Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source South West GLH was removed from KCNQ1.\nSource London South GLH was removed from KCNQ1.\nSource North West GLH was removed from KCNQ1.\nPenetrance for gene KCNQ1 was set from to Complete",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2020-06-12T13:26:29.071230Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TRDN as Green List (high evidence)",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2020-06-12T13:26:29.064819Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene has been given a Green status based on the evidence, which supports a gene-disease association.",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2020-06-12T13:26:29.016734Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: trdn has been classified as Green List (High Evidence).",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2020-06-12T13:22:15.100100Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: KCNE2.",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2020-06-12T13:21:21.621579Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: KCNE1.",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-06-12T13:06:49.152049Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: KCNE1 were set to 19716085",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-06-01T10:45:47.462253Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRDN was added\ngene: TRDN was added to Long QT syndrome. Sources: Expert list\nMode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRDN were set to 31983240; 25922419\nPhenotypes for gene: TRDN were set to Long QT syndrome\nReview for gene: TRDN was set to GREEN\nAdded comment: Gene-disease association rated as DEFINITIVE by ClinGen:\r\nEvidence for involvement of TRDN in LQTS was based mainly on a single publication demonstrating 5 cases with homozygous or compound heterozygous frameshift variants. All cases presented during early childhood (up to the age of 3 years) with QT prolongation, negative T waves in precordial leads, and exercise-induced arrhythmias, although typical\r\ntorsades de pointes was demonstrated only in 1 case. Experimental evidence demonstrated that TRDN loss of function may lead to arrhythmogenesis but did not specifically show prolongation of repolarization, which is the hallmark of LQTS. Accordingly, there was a debate\r\nwithin the panel as to whether the TRDN-related cardiac phenotype should be classified as CPVT or as a unique syndrome, referred in the literature as triadin knockout syndrome. Because QT prolongation was the most easily discernable abnormality, it was decided to consider these cases as having an atypical LQTS phenotype. Furthermore, it was agreed that there was strong evidence for TRDN’s disease association. \nSources: Expert list",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2020-06-01T10:42:55.562063Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNE2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 6, MIM# 613693; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2020-06-01T10:35:55.839049Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNE1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Jervell and Lange-Nielsen syndrome 2, MIM# 612347, Long QT syndrome 5, MIM# 613695; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-05-11T16:07:08.737833Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: CALM3 were changed from to ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782; Long QT syndrome 16,618782",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2020-04-02T09:23:42.188300Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.5",
"user_name": "Claire Kirk",
"item_type": "entity",
"text": "commented on gene: KCNE1",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-03-02T17:21:39.895774Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.4",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-02T17:19:00.511438Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "2.3",
"user_name": "Catherine Snow",
"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": "2019-12-13T12:17:20.934763Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"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": "2019-12-09T14:18:42.468498Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"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": "2019-12-09T14:17:57.182590Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.49",
"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": "2019-12-09T13:25:37.614785Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.48",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to CALM3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2019-12-09T13:25:37.438686Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.48",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to CALM2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2019-12-09T13:25:37.259489Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.48",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to CALM1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-12-09T13:19:29.519665Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.47",
"user_name": "Kate Thomson",
"item_type": "entity",
"text": "reviewed gene: CALM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2019-12-09T13:19:29.501005Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.47",
"user_name": "Kate Thomson",
"item_type": "entity",
"text": "reviewed gene: CALM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2019-12-09T13:19:29.481394Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.47",
"user_name": "Kate Thomson",
"item_type": "entity",
"text": "reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-12-04T10:01:37.084991Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.46",
"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": "2019-11-28T10:54:10.333374Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.45",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "changed review comment from: Gene on Royal Brompton diagnostic panel. Only VUS reported from our lab. Good evidence for association with arrhythmia phenotypes rather than classic LQTS, but gene should exist on this panel as well as larger arrhythmia panel due to possible clinical overlap/differential diagnosis; to: Gene on Royal Brompton diagnostic panel. Only VUS reported from our lab. Limited evidence for association with arrhythmia phenotypes rather than classic LQTS, and likely only rare LOF causative. But gene should possibly exist on this panel as well as larger arrhythmia panel due to possible clinical overlap/differential diagnosis?",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:23:49.567605Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: CALM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:09:40.535339Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:09:40.518629Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:09:40.503376Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SCN4B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:09:40.488819Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:09:40.470942Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: SCN5A: 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": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:09:40.454394Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: KCNQ1: 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": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:09:40.435948Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:09:40.421161Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:09:40.404355Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: KCNE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:09:40.386549Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: KCNE1: 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": "KCNE1",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:09:40.370878Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CALM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:09:40.358010Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CALM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:09:40.344106Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CALM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:09:40.305883Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-11-18T14:07:36.197668Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.43",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TECRL was added\ngene: TECRL was added to Long QT syndrome. Sources: NHS GMS\nMode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TECRL were set to Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021\nReview for gene: TECRL was set to AMBER\nAdded comment: New gene submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel. \nSources: NHS GMS",
"entity_name": "TECRL",
"entity_type": "gene"
},
{
"created": "2019-09-30T13:03:18.546849Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.42",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: MOI was corrected.",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-09-30T13:03:18.515757Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.42",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-09-30T12:52:20.823686Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.41",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: MOI was corrected.",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-09-30T12:52:20.792201Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.41",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-09-30T12:51:42.379755Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.40",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: MOI was corrected.",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2019-09-30T12:51:42.362066Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.40",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNE1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2019-09-24T11:37:01.090362Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.39",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CAV3 were set to ",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2019-09-19T09:53:49.164460Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.38",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: KCNJ5: Rating: AMBER; Mode of pathogenicity: None; Publications: 23872692; Phenotypes: Long QT syndrome 13 (613485), Hyperaldosteronism, familial, type III (613677); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-09-19T09:52:03.449942Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.38",
"user_name": "James Eden",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-09-19T09:50:43.477901Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.38",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12571597; Phenotypes: Long QT syndrome 4 (600919), Cardiac arrhythmia, ankyrin-B-related (600919); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-09-19T09:49:14.875600Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.38",
"user_name": "James Eden",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-09-19T09:15:01.315574Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.38",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "changed review comment from: Gene currently on Royal Brompton diagnostic pane, only a few VUS reported. Low literature evidence based on small number of cases (mainly Wang et al. (2013) Heart Rhythm 10:1500-1506). However in view of some evidence, should be amber rather than red.; to: Gene currently on Royal Brompton diagnostic panel, only a few VUS reported. Low literature evidence based on small number of cases (mainly Wang et al. (2013) Heart Rhythm 10:1500-1506). ",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-09-18T21:20:49.575473Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.38",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: SCN4B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2019-09-18T21:19:58.067562Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.38",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-09-18T21:17:48.128810Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.38",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "changed review comment from: Currently on Royal Brompton diagnostic panel. Some limited evidence in literature of de novo CAV3 variants associated LQTS, with some data demonstrating a gain-of-function increase in late sodium current. (PMID: 17060380), but functional link not very clear. ; to: Currently on CGGL Royal Brompton diagnostic panel, only VUS reported to date Some limited evidence in literature of de novo CAV3 variants associated LQTS, with some data demonstrating a gain-of-function increase in late sodium current. (PMID: 17060380), but functional link not very clear. ",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2019-09-18T21:16:00.939117Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.38",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "changed review comment from: Currently on Royal Brompton diagnostic panel. Some limited evidence in literature of de novo CAV3 variants associated LQTS, with some data demonstrating a gain-of-function increase in late sodium current. (PMID: 17060380), but functional link not very clear. would suggest amber designation rather than red..; to: Currently on Royal Brompton diagnostic panel. Some limited evidence in literature of de novo CAV3 variants associated LQTS, with some data demonstrating a gain-of-function increase in late sodium current. (PMID: 17060380), but functional link not very clear. ",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2019-09-18T21:14:46.486873Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.38",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: CALM3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2019-09-18T21:13:32.038301Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.38",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: CALM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24917665, 26969752; Phenotypes: OMIM 616249 Long QT syndrome 15; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2019-09-18T21:08:21.902312Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.38",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "changed review comment from: Gene on Royal Brompton LQTS panel, but low evidence for this (although some evidence for de novo variant assoc. with LQTS/VT phenotype). Definitive for CPVT. Happy woth Amber on LQTS panel; to: On CGGL Royal Brompton LQTS panel, but low evidence for this (although some evidence for de novo variant assoc. with LQTS/VT phenotype). Definitive for CPVT. Happy with Amber on LQTS panel",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-09-12T09:48:25.872754Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: SCN5A were set to 19716085",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-09-12T09:47:55.788531Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: KCNQ1 were set to 19716085",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-09-12T09:47:22.963024Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: KCNJ2 were set to 19716085",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-09-12T09:46:37.691279Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: KCNH2 were set to 19716085; 31358886",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-09-12T09:46:05.694750Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: KCNE2 were changed from Long QT syndrome-6 (613693); Long QT syndrome-6 ; Atrial fibrillation, familial, 4 (611493) to Long QT syndrome 6 (613693); Atrial fibrillation, familial, 4 (611493)",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2019-09-12T09:45:50.571432Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: KCNE2 were set to 19716085",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2019-09-12T09:44:46.162788Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: KCNE1 were changed from Long QT syndrome-5 (613695); Long QT syndrome-5 ; Jervell and Lange-Nielsen syndrome 2 (612347) to Long QT syndrome 5 (613695); Jervell and Lange-Nielsen syndrome 2 (612347)",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2019-09-12T09:43:58.979689Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CACNA1C were set to 18250309",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-09-09T16:16:03.663644Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "List of related panels changed from Long QT to Long QT; R127",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-08-05T15:57:13.286693Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.29",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Publications for gene: KCNH2 were set to 19716085",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.649180Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: SCN4B: Atrial fibrillation, familial, 17 (OMIM 611819), Long QT syndrome-10 (OMIM 611819).",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.636302Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: RYR2: Arrhythmogenic right ventricular dysplasia 2 (OMIM 600996), Ventricular tachycardia, catecholaminergic polymorphic, 1 (OMIM 604772)",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.623756Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: NOS1AP: [QT interval, variation in] (OMIM %610741) - only association",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.608428Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNE3: ?Brugada syndrome 6 (OMIM 613119)",
"entity_name": "KCNE3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.595057Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CAV3: Cardiomyopathy, familial hypertrophic (OMIM 192600), Creatine phosphokinase, elevated serum (OMIM 123320), Long QT syndrome 9 (OMIM 611818), Myopathy, distal, Tateyama type (OMIM 614321), Rippling muscle disease (OMIM 606072).",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.580964Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CALM1: Long QT syndrome 14 (OMIM 616247).Ventricular tachycardia, catecholaminergic polymorphic, 4 (OMIM 614916).",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.564332Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: AKAP9: ?Long QT syndrome-11 (OMIM 611820)",
"entity_name": "AKAP9",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.551083Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: SNTA1: Long QT syndrome 12 (OMIM 612955)",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.535355Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: SCN5A: Atrial fibrillation, familial, 10 (OMIM 614022), Brugada syndrome 1 (OMIM 601144), Cardiomyopathy, dilated, 1E (OMIM 601154), Heart block, nonprogressive (OMIM 113900), Heart block, progressive, type IA (OMIM 113900), Long QT syndrome-3 (OMIM 603830), Sick sinus syndrome 1 (OMIM 608567), Ventricular fibrillation, familial, 1 (OMIM 603829-AR), {Sudden infant death syndrome, susceptibility to} (OMIM 272120-AR).",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.521344Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNQ1: Atrial fibrillation, familial, 3 (OMIM 607554), Jervell and Lange-Nielsen syndrome (OMIM 220400 - AR), Long QT syndrome 1 (OMIM 192500), Short QT syndrome 2 (609621), {Long QT syndrome 1, acquired, susceptibility to} (OMIM 192500)",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.501357Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNJ5: Hyperaldosteronism, familial, type III (OMIM 613677), Long QT syndrome 13 (OMIM 613485).",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.488189Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNJ2: Andersen syndrome (OMIM 170390), Atrial fibrillation, familial, 9 (OMIM 613980), Short QT syndrome 3 (OMIM 609622)",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.474644Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNH2: Long QT syndrome 2 (OMIM 613688), Short QT syndrome 1 (OMIM 609620), {Long QT syndrome 2, acquired, susceptibility to} (OMIM 613688)",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.461116Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNE2: Atrial fibrillation, familial, 4 (OMIM 611493), Long QT syndrome 6 (OMIM 613693)",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.446388Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNE1: Jervell and Lange-Nielsen syndrome 2 (OMIM 612347 - AR), Long QT syndrome 5 (OMIM 613695 - AD)",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.433129Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CACNA1C: Brugada syndrome 3 (OMIM 611875), Timothy syndrome (OMIM 601005)",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.420601Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: ANK2: Cardiac arrhythmia, ankyrin-B-related (OMIM 600919), Long QT syndrome 4 (OMIM 600919)",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.406275Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CALM3: No links to phenotypes on OMIM",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.393515Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CALM2: Long QT syndrome 15 (OMIM 616249)",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:37.380189Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.26",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: ALG10: {Long QT syndrome, acquired, reduced susceptibility to} (OMIM 613688)",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.849502Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: SCN4B: Looks to be evidence in the Medeiros-Domingo paper (PMID 17592081) of a variant that tracked in a family, not on GnomAD and also functional evidence. PMID: 23631430. PMID: 23604097.",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.837442Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: RYR2: Gene associated With CPVT mainly but reported with LQT cases (PMID 26132555). PMID: 21126784. http://www.avidscience.com/wp-content/uploads/2017/07/update-on-the-genetic-basis-of-long-qt-syndrome.pdf. https://www.ahajournals.org/doi/abs/10.1161/circ.134.suppl_1.20155.",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.826718Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: NOS1AP: Not enough evidence for this gene. PMID:26132555. PMID: 20538168.",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.814927Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNE3: No evidence for LQT - ? some evidence assoc with Brugada. PMID:19122847. PMID: 22987075. PMID 19306396. ",
"entity_name": "KCNE3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.801682Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CAV3: Not a definitive link for this gene and LQT. May need Clinical input to rule out. PMID:26132555. PMID:17275750. PMID: 24021552. PMID: 17060380.",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.788310Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CALM1: Evidence associated with CPVT primarily. Reported de novo variant in 6 year old boy (PMID: 28491771) with LQT but phenotype not clear (need clinical input). Other paper with strong de novo CALM1 variant in child with LQT and cardiac arrest (PMID:27374306). PMID 23388215.",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.776337Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: AKAP9: No definitive evidence. Although listed on HGMD as associated with LQT - the evidence is not there to back it up. PMID:23174487. PMID:26132555. PMID: 249981977.",
"entity_name": "AKAP9",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.764195Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: SNTA1: Rare LQT susceptibility gene - see Ueda paper for ? functional evidence. PMID:19684871. PMID:18591664. 23376825",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.750660Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: SCN5A: Established LQT gene - numerous literature evidence. PMID:23098067. PMID: 19716085. PMID: 15840176. https://www.sciencedirect.com/science/article/pii/S097262921730178X.",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.738519Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNQ1: Numerous literature evidence from family studies and functional studies - established gene. PMID:19716085. PMID:17470695. PMID: 26344792. PMID: 16253915.",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.725759Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNJ5: Literature evidence includes a large Chinese Pedigree. PMID:20560207. PMID:25322277. PMID: 24574546.",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.712912Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNJ2: Lots of literature evidence for this gene. PMID: 16217063. PMID: 23440193. PMID: 17221872. PMID: 24861851.",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.700877Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNH2: Literature/functional evidence for this established LQT gene. PMID:28749435. PMID:19716085. PMID: 22429796.",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.688501Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNE2: Literature/functional evidence for this gene. PMID:19716085. PMID:27465075. PMID:20042375.",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.675835Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: KCNE1: Lots of literature evidence for this gene. Possible milder phenotype. PMID:19716085. PMID: 17341399. PMID: 14499862.",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.661608Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CACNA1C: Literature and functional evidence for this gene. PMID: 25633834. PMID:30023270. PMID:27390944. PMID 24728418.",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.647552Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: ANK2: Does not look like classic LQT, patients that have variants sometime asymptomatic. Some variants reported are too frequent.PMID:26132555. PMID: 16253912. PMID: 17242276. PMID:15178757.",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.632999Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CALM3: Literature evidence that de novo variant found in patient with severe LQT (PMID25460178) . Also, some recent evidence in 2016 as found in patient and mother with CPVT (functional effect on calcium binding) - see 27516456",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.620431Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CALM2: Literature evidence -see PMID: 24917665. PMID:26969752. PMID 23388215.",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:43.608103Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.25",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: ALG10: No evidence for this gene to include. PMID:15280551",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:52.160838Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: SCN4B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:52.146588Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:52.133346Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: NOS1AP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:52.120568Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: KCNE3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes",
"entity_name": "KCNE3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:52.109781Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:52.098313Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: CALM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:52.088317Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: AKAP9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "AKAP9",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:52.077373Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: SNTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:52.065676Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:52.053530Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:52.041759Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: KCNJ5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:52.029894Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:52.018037Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"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; Current diagnostic: yes",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:52.006386Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: KCNE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:51.995288Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:51.983793Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:51.972682Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:51.960801Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: CALM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:51.950195Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: CALM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:51.940261Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.24",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: ALG10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2019-03-19T16:47:13.325900Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.23",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: CALM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-03-19T16:40:53.658794Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.23",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: None; Publications: 17060380; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2019-03-19T16:18:24.695703Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.23",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2019-03-19T16:06:19.855161Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.23",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-03-19T15:54:28.816592Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.23",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: ANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12571597; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-03-19T15:28:21.531801Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.23",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29798782; 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\t603830, Sick sinus syndrome 1\t608567, Ventricular fibrillation, familial, 1 603829, Sudden infant death syndrome, susceptibility to272120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-03-19T15:22:09.304390Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.23",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LQTS-1 (192500), SQTS 2 (609621), JLNS (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",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-03-19T15:20:24.314138Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.23",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Andersen Tawil syndrome (170390), Atrial fibrillation, familial, 9 (613980), Short QT syndrome 3 (609622); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-03-19T15:16:00.709037Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.23",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome-2 (613688), Short QT syndrome 1 (609620); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-03-19T15:12:47.555066Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.23",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: KCNE2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome-6 (613693), Atrial fibrillation, familial, 4 (611493); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2019-03-19T15:06:38.597313Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.23",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19716085; 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",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2019-03-19T12:03:42.778564Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.23",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 18250309, 25633834, 24728418; Phenotypes: Timothy syndrome (601005); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:10:39.085338Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.23",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: ANK2 as Red List (low evidence)",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:10:39.082715Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.23",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Due to the presence of lots of VUS variants in this gene for Long QT syndrome, the decision was made to demote this gene from Green to Red in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019, but it should be added to/kept on the larger arrhythmia panels as Green.",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:10:39.065879Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.23",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: ank2 has been classified as Red List (Low Evidence).",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:09:04.207321Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.22",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: KCNJ5 as ready",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:09:04.202236Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.22",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: kcnj5 has been classified as Red List (Low Evidence).",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:09:01.090151Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.22",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: KCNJ5 as Red List (low evidence)",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:09:01.087811Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.22",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Due to limited evidence for causation of Long QT syndrome, the decision was made to demote this gene from Green to Red in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019.",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:09:01.068293Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.22",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: kcnj5 has been classified as Red List (Low Evidence).",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:07:45.991245Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.21",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: SNTA1 as ready",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:07:45.985246Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.21",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: snta1 has been classified as Red List (Low Evidence).",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:07:42.336990Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.21",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: SNTA1 as Red List (low evidence)",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:07:42.334404Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.21",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene-disease was discussed in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019, and it was confirmed that this should be demoted from Green to Red due to lack of evidence for Long QT syndrome.",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:07:42.321399Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.21",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: snta1 has been classified as Red List (Low Evidence).",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:05:53.869934Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: CALM3 as Amber List (moderate evidence)",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:05:53.867235Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: It was decided in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 to promote this gene from Red to Amber on this panel.",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:05:53.854234Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: calm3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:05:39.053441Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: CALM2 as Amber List (moderate evidence)",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:05:39.050570Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: It was decided in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 to promote this gene from Red to Amber on this panel.",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:05:39.034086Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: calm2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:05:22.860729Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: CALM1 as Amber List (moderate evidence)",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:05:22.857663Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: It was decided in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 to promote this gene from Red to Amber on this panel.",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:05:22.837608Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: calm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:05:22.288936Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.17",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: CALM1 as Amber List (moderate evidence)",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:05:22.286744Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.17",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: It was decided in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 to promote this gene from Red to Amber on this panel.",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:05:22.271404Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.17",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: calm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:34.612996Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to SCN4B.\nMode of inheritance for gene SCN4B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:34.534313Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to RYR2.\nMode of inheritance for gene RYR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:34.462347Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to NOS1AP.\nMode of inheritance for gene NOS1AP was changed from to Unknown",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:34.386424Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to KCNE3.",
"entity_name": "KCNE3",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:34.315992Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to CAV3.",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:34.244094Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to CALM3.\nMode of inheritance for gene CALM3 was changed from to Unknown",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:34.169957Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to CALM2.",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:34.097929Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to CALM1.",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:34.025902Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to ALG10.\nMode of inheritance for gene ALG10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:33.937914Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to AKAP9.\nMode of inheritance for gene AKAP9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKAP9",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:33.852500Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to SNTA1.",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:33.779894Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to SCN5A.\nMode of inheritance for gene SCN5A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:33.704156Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:33.629953Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to KCNJ5.",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:33.557299Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to KCNJ2.",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:33.483556Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"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": "2019-02-21T17:05:33.380079Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to KCNE2.",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:33.305270Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to KCNE1.\nMode of inheritance for gene KCNE1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:33.233506Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to CACNA1C.",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:33.160855Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to ANK2.",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.418791Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.15",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of gene: SCN4B: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.407489Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.15",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of gene: RYR2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.396767Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.15",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of gene: CAV3: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.385182Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.15",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of gene: CALM1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.374149Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.15",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of gene: SNTA1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.362573Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.15",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of gene: SCN5A: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.351204Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.15",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of gene: KCNQ1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.339852Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.15",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of gene: KCNJ5: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.328137Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.15",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of gene: KCNJ2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.315677Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.15",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of gene: KCNH2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.300544Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.15",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of gene: KCNE2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.287302Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.15",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of gene: KCNE1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.274680Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.15",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of gene: CACNA1C: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:08.262349Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.15",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of gene: ANK2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:07.361792Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to SCN4B.",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:07.289597Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to RYR2.",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:07.219204Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to CAV3.",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:07.144075Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to CALM1.",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:07.050008Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to SNTA1.",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:06.971427Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to SCN5A.",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:06.892517Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to KCNQ1.",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:06.807787Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to KCNJ5.",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:06.716800Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to KCNJ2.",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:06.632592Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to KCNH2.",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:06.557694Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to KCNE2.",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:06.480730Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to KCNE1.",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:06.406021Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to CACNA1C.",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:06.337032Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to ANK2.",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:38.606900Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.13",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: ; Publications: 19684871; 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": "2019-02-14T13:38:38.592584Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.13",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; 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": "2019-02-14T13:38:38.579148Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.13",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: SCN4B: Rating: RED; Mode of pathogenicity: ; Publications: 17592081; Phenotypes: Long QT syndrome-10 (611819); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:38.565459Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.13",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; 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": "2019-02-14T13:38:38.551712Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.13",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: KCNJ5: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; Phenotypes: Long QT syndrome 13 (613485), Hyperaldosteronism, familial, type III (613677); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:38.537714Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.13",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; 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": "2019-02-14T13:38:38.524144Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.13",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; 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": "2019-02-14T13:38:38.510410Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.13",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: KCNE2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; 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": "2019-02-14T13:38:38.492729Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.13",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; 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": "2019-02-14T13:38:38.476659Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.13",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 18250309; 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": "2019-02-14T13:38:38.461924Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.13",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: ANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12571597; Phenotypes: Long QT syndrome 4 (600919), Cardiac arrhythmia, ankyrin-B-related (600919); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:38.447508Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.13",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: AKAP9: Rating: RED; Mode of pathogenicity: ; Publications: 25087618; 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": "2019-02-14T13:26:43.088333Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.12",
"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 19684871\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:26:42.998516Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.12",
"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 7889574; doi:10.1007/s12265-016-9673-5; 28391114 to 19716085\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:26:42.923669Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.12",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to SCN4B.\nAdded phenotypes Long QT syndrome-10 (611819) for gene: SCN4B\nPublications for gene SCN4B were changed from PMID: 17592081 to 17592081",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:26:42.849851Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.12",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to KCNQ1.\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 to 19716085\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:26:42.774400Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.12",
"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 19716085\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:26:42.702059Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.12",
"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 12163457 to 19716085\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:26:42.630121Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.12",
"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 to 19716085\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:26:42.546390Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.12",
"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 19716085\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:26:42.468030Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.12",
"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 19716085\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:26:42.396978Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.12",
"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 15454078 to 18250309\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:26:42.321162Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.12",
"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 12571597\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:26:42.247978Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.12",
"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 18093912 to 25087618",
"entity_name": "AKAP9",
"entity_type": "gene"
},
{
"created": "2019-01-25T12:41:47.955810Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.10",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "commented on gene: SNTA1: 2 variants reported in the literature one of which Oxford lab classify as unlikely to be pathogenic (0.6% of Europeans on GnomAD). Limited functional evidence of link to arrhythmia - thought to act through interractions with SCN5A. Insufficient evidence to be green gene. ",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2019-01-25T12:41:47.939891Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.10",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "commented on gene: KCNJ5: This gene is linked to LQTS based on a large Chinese family with the p.Gly387Arg variant (Wang et al. (2013) HeartRhythm 10:1500_1506 Yang et al. 2010 American Journal of Human Genetics 86:872-880). However this variant is present in 47 out of 9424 South Asians in GnomAD (0.5 percent). Oxford lab classify as VUS. Therefore no evidence to support that variants in this gene cause LQTS. ",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2019-01-25T12:41:47.927669Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.10",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "edited their review of gene: KCNE2: Added comment: Very little genetic variation in this gene. No significant evidence of pathogenic variants in this gene according to todays classification standards but it remains a good functional candidate. Happy for it to remain on the LQT panel. ; Changed rating: AMBER",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2019-01-25T12:41:47.913453Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.10",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "commented on gene: CALM1: Most pathogenic variants are detected in individuals with CPVT. Oxford cohort have de novo variants in CALM1 in individuals with a cross over phenotype LQT or VT. ",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2019-01-25T12:41:47.897574Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.10",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "edited their review of gene: ANK2: Added comment: Ankyrin-B syndrome which is caused by pathogenic mutations in the ANK2 gene is a clinical entity distinct from classical Long QT syndrome. Mohler et al 2004 and Mohler et al 2007 identified that individuals with ANK2 mutations had a range of arrhythmic phenotypes - a prolonged QT interval was not always a feature. Caution should be applied when investigating variants detected in this gene as many variants that have previously been reported as pathogenic have been detected at high frequencies in ExAC. However there is good evidence that variants in this gene cause life threatening arrhythmias. Would like to see this gene on a general arrhythmia panel if not also on the LQTS panel. ; Changed rating: GREEN",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-01-16T11:54:03.632473Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.9",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Added missing phenotype from OMIM",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2019-01-16T11:54:03.613080Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.9",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: SNTA1 were changed from to Long QT syndrome 12 612955",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2018-11-16T14:16:48.341788Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.7",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to Long QT",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-16T14:16:31.699978Z",
"panel_name": "Long QT syndrome",
"panel_id": 76,
"panel_version": "1.6",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to \nPanel types changed to Rare Disease 100K; GMS Rare Disease",
"entity_name": null,
"entity_type": null
}
]