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[
{
"created": "2023-03-22T15:29:24.272850Z",
"panel_name": "Arrhythmogenic right ventricular cardiomyopathy",
"panel_id": 134,
"panel_version": "3.6",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version 3.5 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T14:29:18.011338Z",
"panel_name": "Arrhythmogenic right ventricular cardiomyopathy",
"panel_id": 134,
"panel_version": "3.5",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "List of related panels changed from Arrythmogenic cardiomyopathy; R133 to Arrhythmogenic cardiomyopathy; R133",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T11:20:03.498459Z",
"panel_name": "Arrhythmogenic right ventricular cardiomyopathy",
"panel_id": 134,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "Panel name changed from Arrhythmogenic cardiomyopathy to Arrhythmogenic right ventricular cardiomyopathy\nList of related panels changed from Arrhythmogenic Right Ventricular Cardiomyopathy; Arrythmogenic cardiomyopathy; R133 to Arrythmogenic cardiomyopathy; R133",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-02-22T17:47:11.569803Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "3.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: LMNA were set to ",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2023-02-22T17:36:10.722266Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "3.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: DSP were set to 27532257; 23500315",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2022-11-30T15:48:10.746759Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "3.1",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T15:46:27.858470Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "3.0",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-10T13:01:03.901329Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.18",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2022-10-10T11:31:00.211961Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: JUP were changed from Naxos disease, OMIM:601214; Arrhythmogenic right ventricular dysplasia 12 , OMIM:611528 to Naxos disease, OMIM:601214; Arrhythmogenic right ventricular dysplasia 12, OMIM:611528",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2022-10-10T11:30:40.644375Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia 12 ; Arrhythmogenic right ventricular dysplasia 12 (611528); Naxos disease (601214) to Naxos disease, OMIM:601214; Arrhythmogenic right ventricular dysplasia 12 , OMIM:611528",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2022-10-10T10:48:22.871301Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DSP were changed from Keratosis palmoplantaris striata II (612908); Skin fragility-woolly hair syndrome (607655); Arrhythmogenic right ventricular dysplasia 8 (607450); Epidermolysis bullosa, lethal acantholytic (609638); Arrhythmogenic right ventricular dysplasia 8 ; Cardiomyopathy, dilated, with woolly hair and keratoderma (605676); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821) to Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD); Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD)",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2022-03-03T10:48:47.144602Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: TTN.",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2022-03-03T10:48:12.733290Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: RYR2.",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2022-03-03T10:47:36.709876Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: CDH2.",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2022-03-03T10:46:53.857417Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TTN: Submitted on behalf of NHS GMS \"NHS disagree that TTN should be Green on the panel.\"",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2022-03-03T10:46:53.845835Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TTN: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2022-03-03T10:46:53.834460Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: RYR2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2022-03-03T10:46:53.817842Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CDH2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2022-03-03T10:46:42.972343Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Red was added to RYR2.\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2022-03-03T10:46:42.795586Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to CDH2.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:43:47.572830Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: FLNC were changed from Arrhythmogenic cardiomyopathy; Cardiomyopathy, familial restrictive 5 (617047); Myopathy, distal, 4 (614065); Myopathy, myofibrillar, 5 (609524) to Cardiomyopathy, familial hypertrophic, 26, OMIM:617047; Cardiomyopathy, familial restrictive 5, OMIM:617047; Hypertrophic cardiomyopathy 26, MONDO:0014883",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-11-02T12:37:32.183879Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: TTN: This gene will been flagged for review at the next GMS panel update, in the context of newly published data (added 'for-review' tag). High occurrence of arrhythmias has been associated with TTN-related DCM, which often precedes a DCM diagnosis. Therefore, there may be value in considering inclusion on this panel.",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2020-11-02T12:29:56.964879Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Recent 2020 paper (PMID: 33106378) reports a high burden of ventricular arrhythmias associated with TTNtv-related DCM. From a total of 115 patients, 43% had atrial fibrillation and 23% had ventricular arrhythmias. In 20% an arrhythmia preceded the DCM diagnosis.; to: Recent 2020 paper (PMID: 33106378) reports a high burden of arrhythmias associated with TTNtv-related DCM. From a total of 115 patients, 43% had atrial fibrillation, 23% had ventricular arrhythmias, and 13% had other supraventricular arrhythmias. In 20% an arrhythmia preceded the DCM diagnosis.",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2020-11-02T12:25:35.104449Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: TTN were set to 30535219; 31251381",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2020-11-02T12:25:08.167403Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: TTN.",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2020-11-02T12:24:50.796840Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: TTN: Rating: ; Mode of pathogenicity: None; Publications: 33106378; Phenotypes: Cardiomyopathy, dilated, 1G, 604145; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2020-10-15T16:11:25.776423Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.11",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-10-15T16:10:56.210934Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.10",
"user_name": "Catherine Snow",
"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\nPanel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-25T13:00:48.265217Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CDH2: Tagged with \"for-review\" for the specialist group to review whether this gene should remain Green.",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-08-25T12:59:04.717586Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: CDH2.",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-08-20T13:41:01.080216Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.9",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-04T15:31:11.069575Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: RYR2: Have tagged with \"for-review\" for the next major review of the panel.",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-04T15:30:42.449918Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: RYR2.",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-04T15:29:45.782512Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CDH2 were changed from to Arrhythmogenic right ventricular dysplasia, familial, 14, 618920",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-08-03T07:11:52.344482Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-08-03T07:02:12.991617Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: None; Publications: 11159936, 25041964, 29543670; Phenotypes: Arrhythmogenic right ventricular dysplasia 2, MIM# 600996; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-06-08T11:29:45.073266Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on publications: PMID 31924696 reports two new trucating variants in cases of arrhythmogenic right ventricular cardiomyopathy.",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-06-08T11:29:45.001332Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: FLNC were set to 27908349; 26666891",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-02-19T16:00:34.297166Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.5",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-13T12:10:07.675471Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"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": "2019-12-09T14:51:14.213782Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"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": "2019-12-09T14:50:19.478788Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.59",
"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": "2019-12-09T13:25:35.307155Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.58",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to CDH2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2019-12-09T13:19:29.202719Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.57",
"user_name": "Kate Thomson",
"item_type": "entity",
"text": "reviewed gene: CDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2019-12-04T10:00:41.604109Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.56",
"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": "2019-12-02T13:46:44.785500Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.55",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:46:14.432790Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.55",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ANK2 was added\ngene: ANK2 was added to Arrhythmogenic cardiomyopathy. Sources: NHS GMS,Expert Review Amber\nMode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:41:07.591396Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.54",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TTN were changed from to Cardiomyopathy, dilated, 1G, 604145",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:40:54.064876Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.53",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TTN were set to ",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:40:26.856355Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.52",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: RBM20 were changed from to Cardiomyopathy, dilated, 1DD 613172",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:40:15.743225Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.51",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: RBM20 were set to ",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:39:57.160860Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.50",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: SCN5A were set to 24317018; doi:10.1007/s12265-016-9673-5",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:34:40.091289Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.49",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PLN were set to 22820313; 28102477",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:33:50.891584Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.48",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: LMNA were changed from to LMNA-related DCM",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:32:35.965058Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.47",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FLNC were changed from v to Arrhythmogenic cardiomyopathy; Cardiomyopathy, familial restrictive 5 (617047); Myopathy, distal, 4 (614065); Myopathy, myofibrillar, 5 (609524)",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:28:48.757303Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.46",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: DES were set to 29567486",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:28:00.565512Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:28:00.548222Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:28:00.530727Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:28:00.511067Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: RBM20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:28:00.493278Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:28:00.475735Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:28:00.455655Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:28:00.437120Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:28:00.418140Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:28:00.400482Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:28:00.382047Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:28:00.363061Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:28:00.343631Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:28:00.324486Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:28:00.304750Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:27:36.530161Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to RYR2.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-12-02T13:27:36.412950Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to LMNA.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2019-11-20T10:36:56.287915Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.43",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: FLNC as Green List (high evidence)",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-11-20T10:36:56.284326Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.43",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from Amber to Green based on two expert reviews and Definitive gene validity curation by ClinGen Expert Panel.",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-11-20T10:36:56.262449Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.43",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: flnc has been classified as Green List (High Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-11-20T10:36:34.080922Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.42",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-10-03T13:27:31.013839Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.41",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Phenotypes for gene: FLNC were changed from to v",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-10-03T13:25:48.211800Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: CDH2 as Amber List (moderate evidence)",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2019-10-03T13:25:48.206798Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Was agreed by the GMS Cardiology Specialist Group that this should be Amber rating on a call on Thursday 3rd October 2019.",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2019-10-03T13:25:48.169876Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cdh2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2019-10-03T13:19:51.950679Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.39",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2019-10-03T13:16:00.843155Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.38",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Publications for gene: CDH2 were set to ",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2019-10-03T13:14:39.868669Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: CDH2 was added\ngene: CDH2 was added to Arrhythmogenic cardiomyopathy. Sources: Expert list\nMode of inheritance for gene: CDH2 was set to Unknown",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2019-09-27T09:29:22.217099Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 23595706, 23568436, 24909667, 25700660, 30763825; Phenotypes: Cardiomyopathy, dilated, 1P 609909, Cardiomyopathy, hypertrophic, 18 613874; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-09-27T09:19:47.651855Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25041964, 27761164; Phenotypes: Arrhythmogenic right ventricular dysplasia 2 600996, Ventricular tachycardia, catecholaminergic polymorphic, 1 604772; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-09-27T08:43:51.810004Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: None; Publications: 26916278, 24317018, 28069705; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-09-27T08:38:58.548715Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: RBM20: Rating: RED; Mode of pathogenicity: None; Publications: 29650543, 22466703, 22561820; Phenotypes: Cardiomyopathy, dilated, 1DD 613172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2019-09-27T08:25:24.831973Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: None; Publications: 23168288, 30370089, 20829228, 25921558, 29212896; Phenotypes: Cardiomyopathy, dilated, 1I 604765, Myopathy, myofibrillar, 1 601419, Scapuloperoneal syndrome, neurogenic, Kaeser type 181400; Mode of inheritance: Unknown",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2019-09-18T23:09:25.809258Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30535219, 31251381; Phenotypes: OMIM 604145 Cardiomyopathy, dilated, 1G; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2019-09-18T23:07:57.066264Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2019-09-18T23:07:33.719302Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: TTN: Rating: ; Mode of pathogenicity: None; Publications: 30535219, 31251381; Phenotypes: OMIM 604145 Cardiomyopathy, dilated, 1G; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2019-09-18T23:03:18.108988Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: TGFB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2019-09-18T23:01:24.192043Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-09-18T22:53:25.672553Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: None; Publications: 29650543, 30482687; Phenotypes: OMIM: 613172 Cardiomyopathy, dilated, 1DD; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2019-09-18T22:40:06.303513Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LMNA-related DCM; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2019-09-18T22:35:02.888600Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257, 23812740; Phenotypes: Arrhythmogenic right ventricular dysplasia 5; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2019-09-18T22:31:31.629059Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-09-18T22:22:32.105922Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22820313; Phenotypes: DCM, HCM; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-09-18T22:01:02.484248Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: Arrhythmogenic right ventricular dysplasia 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2019-09-18T21:59:06.522664Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: OMIM: Arrhythmogenic right ventricular dysplasia 12, Naxon disease (AR); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2019-09-18T21:55:05.774242Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy, dilated, with woolly hair and keratoderma, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2019-09-18T21:54:02.188014Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2019-09-18T21:53:52.716911Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: DSP: Rating: ; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy, dilated, with woolly hair and keratoderma, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2019-09-18T21:51:15.937071Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: OMIM: 610193 Arrhythmogenic right ventricular dysplasia 10; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2019-09-18T21:50:40.735024Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2019-09-18T21:50:24.184339Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "changed review comment from: On CGGL royal Brompton ACM panel. Definitive ARVC gene.; to: On CGGL royal Brompton ACM panel. Definitive ARVC gene.",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2019-09-18T21:50:03.620013Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: DSG2: Rating: ; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: OMIM: 610193 Arrhythmogenic right ventricular dysplasia 10; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2019-09-18T21:47:26.231978Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: 610476 Arrhythmogenic right ventricular dysplasia 11; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2019-09-18T21:43:37.887529Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: OMIM 601419 Myopathy, myofibrillar,; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2019-09-12T13:11:40.102481Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: FLNC were set to 27908349",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-09-12T13:10:53.213985Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: DSG2 were set to 27532257; 23500315",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2019-09-12T13:10:30.276030Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: DSC2 were set to 27532257; 23500315",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2019-09-12T13:10:08.268862Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TMEM43 were set to 27532257; 23812740",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2019-09-12T13:09:25.333597Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/; 19926015; 17875969",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-09-12T13:08:59.173237Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: RYR2 were changed from Arrhythmogenic right ventricular dysplasia 2 to Arrhythmogenic right ventricular dysplasia 2; Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-09-12T13:08:38.852880Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-09-12T13:07:04.430860Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PLN were changed from to Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874)",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-09-12T13:06:00.520292Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: DES were set to ",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2019-09-12T13:05:41.880832Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: DES were changed from to Cardiomyopathy, dilated, 1I (604765); Myopathy, myofibrillar, 1 (601419); Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2019-09-09T16:12:19.037258Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.26",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "List of related panels changed from Arrhythmogenic Right Ventricular Cardiomyopathy; Arrythmogenic cardiomyopathy to Arrhythmogenic Right Ventricular Cardiomyopathy; Arrythmogenic cardiomyopathy; R133",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-08-23T10:02:17.257216Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.25",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26666891; Phenotypes: Arrhythmogenic cardiomyopathy, Cardiomyopathy, familial restrictive 5 (OMIM:617047), Myopathy, distal, 4 (OMIM: 614065), Myopathy, myofibrillar, 5 (OMIM:609524; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:34.937807Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.23",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: TTN: Cardiomyopathy, dilated, 1G (604145); Cardiomyopathy, familial hypertrophic, 9 (613765) and others",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:34.924871Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.23",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: TGFB3: Arrhythmogenic right ventricular dysplasia 1 (107970); Loeys-Dietz syndrome 5 (615582)",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:34.911946Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.23",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: SCN5A: Atrial fibrillation, familial, 10 (614022); Brugada syndrome 1 (601144); Cardiomyopathy, dilated, 1E (601154) ; Heart block, nonprogressive (113900); Long QT3 (603830)",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:34.899702Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.23",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: LMNA: Cardiomyopathy, dilated, 1A (115200) and others",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:34.887962Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.23",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: LDB3: Cardiomyopathy, dilated, 1C, with or without LVNC; Cardiomyopathy, hypertrophic, 24; Cardiomyopathy, dilated, 1C, with or without LVNC (601493); Myopathy, myofibrillar, 4 (609452)",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:34.876379Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.23",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CTNNA3: Arrhythmogenic right ventricular dysplasia, familial, 13 (615616)",
"entity_name": "CTNNA3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:34.864561Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.23",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: TMEM43: Arrhythmogenic right ventricular dysplasia 5 (604400); Emery-Dreifuss muscular dystrophy 7, AD (614302)",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:34.852115Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.23",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: RYR2: Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:34.839242Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.23",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: PLN: Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874)",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:34.827022Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.23",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: PKP2: Arrhythmogenic right ventricular dysplasia 9 (609040)",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:34.814501Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.23",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: JUP: Arrhythmogenic right ventricular dysplasia 12 (611528); Naxos disease (601214) ",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:34.802137Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.23",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: DSP: Arrhythmogenic right ventricular dysplasia 8 (607450) Cardiomyopathy, dilated, with woolly hair and keratoderma (605676); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821)",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:34.789659Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.23",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: DSG2: Arrhythmogenic right ventricular dysplasia 10 (610193); Cardiomyopathy, dilated, 1BB (612877) ",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:34.776637Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.23",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: DSC2: Arrhythmogenic right ventricular dysplasia 11 (610476)",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:34.763101Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.23",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: DES: Cardiomyopathy, dilated, 1I (604765); Myopathy, myofibrillar, 1 (601419); Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:30:34.750127Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.23",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CAVIN4: No OMIM association; HGMD DMD/ARVC",
"entity_name": "CAVIN4",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:40.651523Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.22",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: TTN: PubMED: 29567486 - core gene. All missense on HGMD. Not for panel. ",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:40.638817Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.22",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: TGFB3: On HGMDPro assoc mainly with Loeys-Dietz. ARVD1 OMIM: 107970. Beffagna Cardiovascular Research 65 (2005) 366 373: large ARVC family where index is 11 year old. Variant tracked with disease in a number of family members. Very rare cause of ARVC",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:40.624837Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.22",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: SCN5A: PubMED: 29567486 - core gene. Few variants on HGMD. 24317018 - I137M identified in one proband (no MAF, BI supporting). 28341781 DM origionally but downgraded to ?DM. Little evidence",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:40.611699Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.22",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: LMNA: PubMED: 29567486 - core gene. Few patients on HGMD with DM variant and ARVC. Pubmed: 22199124 (LMNA variants mimic ARVC, some segregation. 4 families with ARVC and LMNA), 23684604. Genetic screening for LMNA gene is important for ARVC patients, particularly in patients with bradycardia (26620845) - 2 unrelated probands identified with LVNC variant - first LMNA mutation p.M1K was detected in a 62-year-old male proband, while the second mutation p.W514X was found in a 70-year-old male proband. ",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:40.595832Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.22",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: LDB3: Some patients with DCM have LVNC. ",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:40.582518Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.22",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CTNNA3: High rate of truncating variants in general population. Only a couple of reports assoc LQT and ARVC (but no real evidence). Only weak Class 3s reported at BGL. Low penetrance: 30092956",
"entity_name": "CTNNA3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:40.570643Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.22",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: TMEM43: PubMED: 29567486 - core gene. Listed on HGMDPro assoc with ARVC and DCM - quite strong evidence from segregation etc for ARVC and recommendations to add to panels. Class 3s reported at BGL. Pubmed 26840987. Founder mutation p.S358L - functional evidence. Rare cause of ARVC",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:40.557130Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.22",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: RYR2: PubMED: 29567486 - core gene. Lots of entries on HGMDPro for CPVT as considered to be the main gene. Reported C5 RYR2 assoc with short QT. Multiple variants on HGMD however pathogenicity downgraded to VUS: Pubmed: 28404607. Insufficient evidence to include. ",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:40.543164Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.22",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: PLN: DCM/HCM on OMIM - Not ARVC. HGMD - HCM/DCM. PubMED: 29567486 - core gene. ",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:40.531328Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.22",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: PKP2: PubMED: 29567486 - core gene. Lots of reports on HGMDPro assoc with ARVC /Brugada- strong evidence with this. Class5 variants reported at BGL assoc with arrhythmia. ",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:40.514842Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.22",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: JUP: PubMED: 29567486 - core gene. Lots of evidence on HGMDPro for ARVC. NO pathogenic variants reported at BGL- only C3s. ",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:40.497901Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.22",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: DSP: PubMED: 29567486 - core gene",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:40.482025Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.22",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: DSG2: PubMED: 29567486 - core gene. Lots of entries on HGMDPro for ARVC - including good evidence. One C4 reported at BGL. ",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:40.467679Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.22",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: DSC2: PubMED: 29567486 - core gene. Lots of entries for ARVC for this gene including functional evidence. One class 4 assoc with LVNC - others weak Class 3.",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:40.455620Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.22",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: DES: PubMED: 29567486 - core gene. Myopathy, myofibrillar, 1 associated with cardiac abnormalities (AD/AR inheritance). Less common ARVC gene. Listed in review, rare cause <1% Pubmed: 30092956. HGMD, 2 DM variants, 1 with functional work. ",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:27:40.443517Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.22",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "commented on gene: CAVIN4: HGMD: 8 variants listed assoc with mainly DCM, with with ARVC. Two references are 2018 (PMID30165862). Both NGS screens of cardiomyopathy patients. A 2011 paper: Rodriguez (2011) Circ Cardiovasc Genet 4: 349 PubMed: 21642240 describes 6 variants assoc with DCM, 3 LP - 2 segregated with disease and functional studies in rat myocytes supported pathogenicity, however all have some freq including one which segregates with disease has 24 alleles on Gnomad and 1 homozygote . ",
"entity_name": "CAVIN4",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:49.520399Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.21",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:49.505303Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.21",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: TGFB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:49.491287Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.21",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:49.477949Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.21",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:49.465375Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.21",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:49.453829Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.21",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: CTNNA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CTNNA3",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:49.443074Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.21",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:49.431846Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.21",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:49.417063Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.21",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:49.403837Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.21",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:49.390577Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.21",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:49.376321Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.21",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:49.363965Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.21",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:49.352100Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.21",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:49.340441Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.21",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2019-03-25T16:24:49.329356Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.21",
"user_name": "Rebecca Whittington",
"item_type": "entity",
"text": "reviewed gene: CAVIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "CAVIN4",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:01:40.471728Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: FLNC as ready",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:01:40.469609Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: After discussion in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019, this gene should remain Amber until more evidence arises.",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:01:40.451899Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: flnc has been classified as Amber List (Moderate Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:00:51.722882Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Tag deletions tag was added to gene: RYR2.",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:00:01.540565Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: PLN as ready",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:00:01.537786Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: It was confirmed in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 that this gene should remain Green.",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-03-04T21:00:01.516376Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: pln has been classified as Green List (High Evidence).",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:38.135605Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: CAVIN4 was added\ngene: CAVIN4 was added to Arrhythmogenic cardiomyopathy. Sources: South West GLH\nMode of inheritance for gene: CAVIN4 was set to Unknown",
"entity_name": "CAVIN4",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:38.074137Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to TTN.\nMode of inheritance for gene TTN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:38.009358Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to TGFB3.\nMode of inheritance for gene TGFB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:37.945167Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"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 Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:37.872309Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to LMNA.\nMode of inheritance for gene LMNA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:37.796573Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to LDB3.\nMode of inheritance for gene LDB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:37.730485Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to CTNNA3.\nMode of inheritance for gene CTNNA3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNNA3",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:37.656767Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to TMEM43.\nMode of inheritance for gene TMEM43 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:37.584972Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:37.514806Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to PLN.\nMode of inheritance for gene PLN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:37.445012Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to PKP2.\nMode of inheritance for gene PKP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:37.360442Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to JUP.\nMode of inheritance for gene JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:37.275952Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to DSP.\nMode of inheritance for gene DSP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:37.203911Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to DSG2.\nMode of inheritance for gene DSG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:37.124409Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to DSC2.\nMode of inheritance for gene DSC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2019-02-21T17:05:37.040149Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source South West GLH was added to DES.\nMode of inheritance for gene DES was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.894595Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: RBM20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.877831Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.865949Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: TGFB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.851537Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.19",
"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": "2019-02-20T14:17:09.840613Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.827309Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: TMEM43: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.814555Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.802024Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.789498Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.775848Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.762584Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: DSP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.750323Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.737617Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: DSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2019-02-20T14:17:09.725050Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:16.037338Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: RBM20 was added\ngene: RBM20 was added to Arrhythmogenic cardiomyopathy. Sources: London South GLH\nMode of inheritance for gene: RBM20 was set to ",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:15.980322Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to TTN.",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:15.916920Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to TGFB3.",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:15.853655Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to SCN5A.",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:15.790284Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to LMNA.",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:15.727920Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to TMEM43.",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:15.662597Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to RYR2.",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:15.598116Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to PLN.",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:15.535166Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to PKP2.",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:15.470670Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to JUP.",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:15.408589Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to DSP.",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:15.340698Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to DSG2.",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:15.277146Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to DSC2.",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2019-02-20T13:58:15.213799Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source London South GLH was added to DES.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:37.537072Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.17",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: ; Publications: 23812740, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 5 (604400), Emery-Dreifuss muscular dystrophy 7, AD (614302); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:37.520330Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.17",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23500315, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 9 (609040); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:37.503395Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.17",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: 23500315, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 12 (611528), Naxos disease (601214); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:37.486676Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.17",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: 23500315, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 8 (607450), Cardiomyopathy, dilated, with woolly hair and keratoderma (605676), Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821), Epidermolysis bullosa, lethal acantholytic (609638), Keratosis palmoplantaris striata II (612908), Skin fragility-woolly hair syndrome (607655); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:37.470130Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.17",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23500315, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 10 (610193), Cardiomyopathy, dilated, 1BB (612877); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:38:37.455895Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.17",
"user_name": "James Eden",
"item_type": "entity",
"text": "reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23500315, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 11 (610476), Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:26:37.167865Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to TMEM43.\nAdded phenotypes Emery-Dreifuss muscular dystrophy 7, AD (614302); Arrhythmogenic right ventricular dysplasia 5 (604400) for gene: TMEM43\nPublications for gene TMEM43 were changed from to 27532257; 23812740\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:26:37.102843Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to PKP2.\nAdded phenotypes Arrhythmogenic right ventricular dysplasia 9 (609040) for gene: PKP2\nPublications for gene PKP2 were changed from to 27532257; 23500315\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:26:37.029273Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to JUP.\nAdded phenotypes Arrhythmogenic right ventricular dysplasia 12 (611528); Naxos disease (601214) for gene: JUP\nPublications for gene JUP were changed from to 27532257; 23500315\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:26:36.954628Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to DSP.\nAdded phenotypes Keratosis palmoplantaris striata II (612908); Skin fragility-woolly hair syndrome (607655); Arrhythmogenic right ventricular dysplasia 8 (607450); Epidermolysis bullosa, lethal acantholytic (609638); Cardiomyopathy, dilated, with woolly hair and keratoderma (605676); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821) for gene: DSP\nPublications for gene DSP were changed from to 27532257; 23500315\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:26:36.881124Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to DSG2.\nAdded phenotypes Cardiomyopathy, dilated, 1BB (612877); Arrhythmogenic right ventricular dysplasia 10 (610193) for gene: DSG2\nPublications for gene DSG2 were changed from to 27532257; 23500315\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2019-02-14T13:26:36.805242Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source North West GLH was added to DSC2.\nAdded phenotypes Arrhythmogenic right ventricular dysplasia 11 (610476); Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476) for gene: DSC2\nPublications for gene DSC2 were changed from to 27532257; 23500315\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2019-02-04T07:27:12.769919Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.15",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:19926015, 17875969; Phenotypes: Arrhythmogenic right ventricular cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:30:35.722969Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.15",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from Arrhythmogenic Right Ventricular Cardiomyopathy;Arrythmogenic cardiomyopathy to Arrhythmogenic Right Ventricular Cardiomyopathy; Arrythmogenic cardiomyopathy",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-01-18T09:45:05.050078Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.14",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-01-18T09:27:07.091790Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.14",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-01-18T09:26:34.933325Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.14",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-01-18T09:26:05.021775Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.14",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-01-18T09:25:20.931818Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.14",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "edited their review of gene: RYR2: Added comment: Would be interested to hear findings of Manchester laboratory testing this gene in ARVC cohorts.; Changed mode of pathogenicity: Other",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-01-18T09:22:04.227264Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.14",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-01-17T18:13:16.627574Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Publications for gene: FLNC were set to ",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-01-17T18:13:07.709927Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.13",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: FLNC as Amber List (moderate evidence)",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-01-17T18:13:07.707142Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.13",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from Red to Amber due to new review. For discussion with the NHSE GMS cardiology specialist group.",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-01-17T18:13:07.683173Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.13",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: flnc has been classified as Amber List (Moderate Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-01-17T18:03:20.797914Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.12",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "edited their review of gene: RYR2: Added comment: Would be interested to hear findings of Manchester laboratory testing this gene in ARVC cohorts. ; Changed rating: AMBER; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-01-17T18:03:20.785940Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.12",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "edited their review of gene: FLNC: Added comment: Emerging evidence from the literature and our cohort that truncating variants in this gene cause Arrhythmogenic cardiomyopathy/ARVC.; Changed rating: GREEN; Changed publications: Publications supporting role of truncating variants in this gene in ARVC - PMID: 27908349; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed); Set current diagnostic: yes",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-01-17T18:03:20.772767Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.12",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "commented on gene: PLN: PLN Arg14del varaint reported to be a founder variant in Netherlands and reported in indiviudals with DCM and ARVC. We have not detected this variant in our ARVC cohort (n=121 individuals screened) or DCM cohort (n=1022). Therefore certianly a rare cause of ARVC.",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-01-17T17:58:10.402862Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.11",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Tag founder-effect tag was added to gene: PLN.",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-01-17T17:57:50.377786Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.11",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Publications for gene: PLN were set to ",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-01-17T17:56:25.002251Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.10",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "reviewed gene: FLNC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-01-17T17:56:24.987692Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.10",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "edited their review of gene: RYR2: Added comment: Emerging evidence from the literature and our cohort that truncating variants in this gene cause Arrhythmogenic cardiomyopathy/ARVC.; Changed rating: GREEN; Changed publications: Publications supporting role of truncating variants in this gene in ARVC - PMID: 27908349; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed); Set current diagnostic: yes",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-01-17T17:56:24.973106Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.10",
"user_name": "Oxford Medical Genetics Laboratory",
"item_type": "entity",
"text": "edited their review of gene: PLN: Added comment: PLN Arg14del varaint reported to be a founder variant in Netherlands and reported in indiviudals with DCM and ARVC. We have not detected this variant in our ARVC cohort (n=121 individuals screened) or DCM cohort (n=1022). Therefore certianly a rare cause of ARVC.; Changed publications: Publications supporting role of Arg14del founder varaint in ARVC - PMID: 22820313, PMID: 28102477; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-01-17T17:50:37.859729Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.9",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: FLNC was added\ngene: FLNC was added to Arrhythmogenic cardiomyopathy. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: FLNC was set to ",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2019-01-17T17:50:37.787996Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.9",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to RYR2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2019-01-17T17:50:37.712562Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.9",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to PLN.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2019-01-04T13:22:54.942433Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.8",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel name changed from Arrythmogenic cardiomyopathy to Arrhythmogenic cardiomyopathy\nList of related panels changed from Arrhythmogenic Right Ventricular Cardiomyopathy to Arrhythmogenic Right Ventricular Cardiomyopathy;Arrythmogenic cardiomyopathy",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-16T14:23:38.492750Z",
"panel_name": "Arrythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.6",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-16T14:23:27.576107Z",
"panel_name": "Arrythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "1.5",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel name changed from Arrhythmogenic Right Ventricular Cardiomyopathy to Arrythmogenic cardiomyopathy\nList of related panels changed from to Arrhythmogenic Right Ventricular Cardiomyopathy",
"entity_name": null,
"entity_type": null
}
]