{"count":220437,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=781","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=779","results":[{"created":"2022-08-12T12:57:49.899540+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myl3 has been classified as Green List (High Evidence).","entity_name":"MYL3","entity_type":"gene"},{"created":"2022-08-12T12:57:44.229662+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYL3 were changed from  to Cardiomyopathy, hypertrophic, 8, MIM# 608751","entity_name":"MYL3","entity_type":"gene"},{"created":"2022-08-12T12:57:06.548531+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYL3 were set to ","entity_name":"MYL3","entity_type":"gene"},{"created":"2022-08-12T12:56:33.633443+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYL3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYL3","entity_type":"gene"},{"created":"2022-08-12T12:55:05.097810+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 8, MIM# 608751; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYL3","entity_type":"gene"},{"created":"2022-08-12T12:53:57.191662+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYL2 as ready","entity_name":"MYL2","entity_type":"gene"},{"created":"2022-08-12T12:53:57.179783+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myl2 has been classified as Green List (High Evidence).","entity_name":"MYL2","entity_type":"gene"},{"created":"2022-08-12T12:53:53.500353+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Tag cardiac tag was added to gene: MYL2.","entity_name":"MYL2","entity_type":"gene"},{"created":"2022-08-12T12:53:46.158266+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYL2 were changed from  to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424; Cardiomyopathy, hypertrophic, 10, MIM# 608758","entity_name":"MYL2","entity_type":"gene"},{"created":"2022-08-12T12:51:56.474786+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYL2 were set to ","entity_name":"MYL2","entity_type":"gene"},{"created":"2022-08-12T12:51:27.317125+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYL2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"MYL2","entity_type":"gene"},{"created":"2022-08-12T12:50:59.537659+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23365102, 32453731; Phenotypes: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424, Cardiomyopathy, hypertrophic, 10, MIM# 608758; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"MYL2","entity_type":"gene"},{"created":"2022-08-12T12:39:04.863021+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLA were set to 8878432; 31613176","entity_name":"GLA","entity_type":"gene"},{"created":"2022-08-12T12:38:32.852317+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Tag cardiac tag was added to gene: GLA.","entity_name":"GLA","entity_type":"gene"},{"created":"2022-08-12T12:35:19.162190+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA1C as ready","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2022-08-12T12:35:19.144815+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1c has been classified as Green List (High Evidence).","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2022-08-12T12:35:16.354215+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNA1C were changed from  to Hypertrophic cardiomyopathy; congenital heart defects; conduction abnormalities; Timothy syndrome, MIM# 601005; Long QT syndrome 8, MIM# 618447","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2022-08-12T12:34:52.255494+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CACNA1C were set to ","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2022-08-12T12:34:27.348129+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CACNA1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2022-08-12T12:33:51.838421+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Association with HCM: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families.\r\n\r\nArrhythmia: definitive evidence for causality in Timothy syndrome but only moderate or limited evidence for isolated LQTS as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group\r\nSources: Expert list; to: Association with HCM: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families.\r\n\r\nArrhythmia: definitive evidence for causality in Timothy syndrome but only moderate or limited evidence for isolated LQTS as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group\r\n\r\nDISPUTED for Brugada.\r\n\r\nSources: Expert list","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2022-08-12T12:33:39.308173+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CACNA1C: Changed phenotypes: Hypertrophic cardiomyopathy, congenital heart defects, conduction abnormalities, Timothy syndrome, MIM# 601005, Long QT syndrome 8, MIM# 618447","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2022-08-12T12:32:51.369591+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CACNA1C: Changed rating: GREEN","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2022-08-12T12:32:36.135514+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Association with HCM: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families. \r\nSources: Expert list; to: Association with HCM: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families.\r\n\r\nArrhythmia: definitive evidence for causality in Timothy syndrome but only moderate or limited evidence for isolated LQTS as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group\r\nSources: Expert list","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2022-08-12T12:30:09.052280+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families. \nSources: Expert list; to: Association with HCM: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families. \r\nSources: Expert list","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2022-08-12T12:27:19.800073+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTN as ready","entity_name":"TTN","entity_type":"gene"},{"created":"2022-08-12T12:27:19.785382+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttn has been classified as Green List (High Evidence).","entity_name":"TTN","entity_type":"gene"},{"created":"2022-08-12T12:26:42.284507+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TTN were set to ","entity_name":"TTN","entity_type":"gene"},{"created":"2022-08-12T12:26:10.408085+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TTN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TTN","entity_type":"gene"},{"created":"2022-08-12T12:25:25.519503+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Tag cardiac tag was added to gene: TTN.","entity_name":"TTN","entity_type":"gene"},{"created":"2022-08-12T12:07:56.046036+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: DEFINITIVE by ClinGen.; to: DEFINITIVE by ClinGen for DCM and myopathy.\r\n\r\nMODERATE for tibial muscular dystrophy and myofibrillar myopathy.\r\n\r\nLIMITED for HCM and ARVC.","entity_name":"TTN","entity_type":"gene"},{"created":"2022-08-12T12:05:36.767187+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TTN: Changed phenotypes: Cardiomyopathy, dilated, 1G, MIM#604145, Cardiomyopathy, familial hypertrophic, 9, MIM# 613765, Tibial muscular dystrophy, tardive, MIM#600334, Salih myopathy (MIM#611705), Muscular dystrophy, limb-girdle, type 2J, 608807; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TTN","entity_type":"gene"},{"created":"2022-08-12T12:01:52.280605+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TPM1 as ready","entity_name":"TPM1","entity_type":"gene"},{"created":"2022-08-12T12:01:52.261341+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tpm1 has been classified as Green List (High Evidence).","entity_name":"TPM1","entity_type":"gene"},{"created":"2022-08-12T12:01:48.107391+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Tag cardiac tag was added to gene: TPM1.","entity_name":"TPM1","entity_type":"gene"},{"created":"2022-08-12T12:01:38.974062+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TPM1 were changed from  to Cardiomyopathy, dilated, 1Y, MIM# 611878; Cardiomyopathy, hypertrophic, 3, MIM# 115196","entity_name":"TPM1","entity_type":"gene"},{"created":"2022-08-12T12:01:07.163181+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TPM1 were set to ","entity_name":"TPM1","entity_type":"gene"},{"created":"2022-08-12T12:00:33.173933+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TPM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TPM1","entity_type":"gene"},{"created":"2022-08-12T11:59:57.226131+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Several families reported, including ones with extensive segregation evidence; functional data, including animal model.\r\n\r\nMODERATE by ClinGen.; to: Several families reported, including ones with extensive segregation evidence; functional data, including animal model.\r\n\r\nMODERATE by ClinGen for DCM.\r\nDEFINITIVE for HCM.","entity_name":"TPM1","entity_type":"gene"},{"created":"2022-08-12T11:59:42.498602+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TPM1: Changed phenotypes: Cardiomyopathy, dilated, 1Y, MIM# 611878, Cardiomyopathy, hypertrophic, 3, MIM# 115196; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TPM1","entity_type":"gene"},{"created":"2022-08-12T11:57:56.971422+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNNT2 as ready","entity_name":"TNNT2","entity_type":"gene"},{"created":"2022-08-12T11:57:56.961937+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnnt2 has been classified as Green List (High Evidence).","entity_name":"TNNT2","entity_type":"gene"},{"created":"2022-08-12T11:57:53.855314+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNNT2 were changed from  to Cardiomyopathy, dilated, 1D, MIM# 601494; Cardiomyopathy, hypertrophic, 2, MIM# 115195; Cardiomyopathy, familial restrictive, 3, MIM# 612422; Left ventricular noncompaction 6, MIM# 601494","entity_name":"TNNT2","entity_type":"gene"},{"created":"2022-08-12T11:57:27.247830+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TNNT2 were set to ","entity_name":"TNNT2","entity_type":"gene"},{"created":"2022-08-12T11:56:53.696466+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TNNT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TNNT2","entity_type":"gene"},{"created":"2022-08-12T11:56:25.986442+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: DEFINITIVE by ClinGen, multiple families, functional data. The p.Lys210del variant is a recurrent pathogenic variant.; to: DEFINITIVE by ClinGen for DCM and HCM, multiple families, functional data. The p.Lys210del variant is a recurrent pathogenic variant.","entity_name":"TNNT2","entity_type":"gene"},{"created":"2022-08-12T11:56:08.490723+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TNNT2: Changed publications: 33947203, 11106718, 20978592, 20031601, 15542288, 17556660, 30681346; Changed phenotypes: Cardiomyopathy, dilated, 1D, MIM# 601494, Cardiomyopathy, hypertrophic, 2, MIM# 115195, Cardiomyopathy, familial restrictive, 3, MIM# 612422, Left ventricular noncompaction 6, MIM# 601494","entity_name":"TNNT2","entity_type":"gene"},{"created":"2022-08-12T11:53:45.483145+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Tag cardiac tag was added to gene: TNNI3.","entity_name":"TNNI3","entity_type":"gene"},{"created":"2022-08-12T11:53:33.276527+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNNI3 as ready","entity_name":"TNNI3","entity_type":"gene"},{"created":"2022-08-12T11:53:33.267611+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnni3 has been classified as Green List (High Evidence).","entity_name":"TNNI3","entity_type":"gene"},{"created":"2022-08-12T11:53:29.695941+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNNI3 were changed from  to Cardiomyopathy, dilated, 1FF, MIM#613286; Cardiomyopathy, hypertrophic, 7, MIM# 613690; Cardiomyopathy, familial restrictive, MIM#1115210","entity_name":"TNNI3","entity_type":"gene"},{"created":"2022-08-12T11:52:35.154108+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TNNI3 were set to ","entity_name":"TNNI3","entity_type":"gene"},{"created":"2022-08-12T11:52:00.495266+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TNNI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TNNI3","entity_type":"gene"},{"created":"2022-08-12T11:50:52.460542+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TNNI3: Changed publications: 22464770, 31568572, 19590045, 20215591, 21846512, 2226790, 30681346; Changed phenotypes: Cardiomyopathy, dilated, 1FF, MIM#613286, Cardiomyopathy, hypertrophic, 7, MIM# 613690","entity_name":"TNNI3","entity_type":"gene"},{"created":"2022-08-12T11:47:43.497614+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN5A as ready","entity_name":"SCN5A","entity_type":"gene"},{"created":"2022-08-12T11:47:43.488277+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn5a has been classified as Green List (High Evidence).","entity_name":"SCN5A","entity_type":"gene"},{"created":"2022-08-12T11:47:35.610252+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Tag cardiac tag was added to gene: SCN5A.","entity_name":"SCN5A","entity_type":"gene"},{"created":"2022-08-12T11:47:18.983973+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCN5A were changed from  to Long QT syndrome 3 (MIM#603830); Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome 1, MIM# 601144; Heart block, progressive, type IA, MIM# 113900; Cardiomyopathy, dilated, 1E, MIM# 601154","entity_name":"SCN5A","entity_type":"gene"},{"created":"2022-08-12T11:46:32.664918+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCN5A were set to ","entity_name":"SCN5A","entity_type":"gene"},{"created":"2022-08-12T11:46:00.858447+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCN5A: Added comment: Variants in this gene are also associated with a range of arrhythmia disorders.; Changed phenotypes: Long QT syndrome 3 (MIM#603830), Sick sinus syndrome 1, MIM# 608567, Ventricular fibrillation, familial, 1, MIM# 603829, Brugada syndrome 1, MIM# 601144, Heart block, progressive, type IA, MIM# 113900","entity_name":"SCN5A","entity_type":"gene"},{"created":"2022-08-12T11:44:23.512218+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SCN5A","entity_type":"gene"},{"created":"2022-08-12T11:42:47.933273+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH7 as ready","entity_name":"MYH7","entity_type":"gene"},{"created":"2022-08-12T11:42:47.918765+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh7 has been classified as Green List (High Evidence).","entity_name":"MYH7","entity_type":"gene"},{"created":"2022-08-12T11:42:45.115900+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYH7 were changed from  to Cardiomyopathy, dilated, 1S, MIM# 613426; MONDO:0013262; Cardiomyopathy, hypertrophic, 1, MIM# 192600; Laing distal myopathy, MIM# 160500; Myopathy, myosin storage, autosomal dominant, MIM# 608358; Myopathy, myosin storage, autosomal recessive, MIM# 255160","entity_name":"MYH7","entity_type":"gene"},{"created":"2022-08-12T11:41:04.560874+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYH7 were set to ","entity_name":"MYH7","entity_type":"gene"},{"created":"2022-08-12T11:40:36.710743+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYH7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYH7","entity_type":"gene"},{"created":"2022-08-12T11:40:00.864014+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Tag cardiac tag was added to gene: MYH7.","entity_name":"MYH7","entity_type":"gene"},{"created":"2022-08-12T11:39:44.421412+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MYH7: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYH7","entity_type":"gene"},{"created":"2022-08-12T11:39:31.355843+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: DEFINITIVE by ClinGen, multiple families with segregation evidence and functional data.; to: DEFINITIVE by ClinGen for HCM and DCM, multiple families with segregation evidence and functional data.\r\n\r\nAlso multiple families reported with skeletal myopathies.","entity_name":"MYH7","entity_type":"gene"},{"created":"2022-08-12T11:39:08.892236+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MYH7: Changed publications: 21483645, 30874888, 21846512, 30384889, 25935763, 24558114, 27000522, 31179125, 24119082, 27965028, 33947203, 30681346, 15322983; Changed phenotypes: Cardiomyopathy, dilated, 1S, MIM# 613426, MONDO:0013262, Cardiomyopathy, hypertrophic, 1, MIM# 192600, Laing distal myopathy, MIM# 160500, Myopathy, myosin storage, autosomal dominant, MIM# 608358, Myopathy, myosin storage, autosomal recessive, MIM# 255160","entity_name":"MYH7","entity_type":"gene"},{"created":"2022-08-12T11:35:56.799260+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYBPC3 as ready","entity_name":"MYBPC3","entity_type":"gene"},{"created":"2022-08-12T11:35:56.788826+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mybpc3 has been classified as Green List (High Evidence).","entity_name":"MYBPC3","entity_type":"gene"},{"created":"2022-08-12T11:35:53.333197+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Tag cardiac tag was added to gene: MYBPC3.","entity_name":"MYBPC3","entity_type":"gene"},{"created":"2022-08-12T11:35:43.432274+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYBPC3 were changed from  to Cardiomyopathy, dilated, 1MM, MIM#615396; Cardiomyopathy, hypertrophic, 4, MIM# 115197","entity_name":"MYBPC3","entity_type":"gene"},{"created":"2022-08-12T11:35:13.997152+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYBPC3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYBPC3","entity_type":"gene"},{"created":"2022-08-12T11:34:42.807358+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Association with HCM is definitive.\r\n\r\nNo segregation or experimental data to support association with DCM. VOUS only in large cohorts.; to: Association with HCM is DEFINITIVE.\r\n\r\nNo segregation or experimental data to support association with DCM. VOUS only in large cohorts.","entity_name":"MYBPC3","entity_type":"gene"},{"created":"2022-08-12T11:34:33.601585+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MYBPC3: Changed rating: GREEN; Changed phenotypes: Cardiomyopathy, dilated, 1MM, MIM#615396, Cardiomyopathy, hypertrophic, 4, MIM# 115197; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYBPC3","entity_type":"gene"},{"created":"2022-08-12T11:22:12.741736+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Tag cardiac tag was added to gene: ACTC1.","entity_name":"ACTC1","entity_type":"gene"},{"created":"2022-08-12T11:22:01.391214+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTC1 as ready","entity_name":"ACTC1","entity_type":"gene"},{"created":"2022-08-12T11:22:01.376817+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actc1 has been classified as Green List (High Evidence).","entity_name":"ACTC1","entity_type":"gene"},{"created":"2022-08-12T11:21:58.915259+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTC1 were changed from  to Cardiomyopathy, dilated, 1R, MIM# 613424; Cardiomyopathy, hypertrophic, 11, MIM# 612098; Atrial septal defect 5, MIM# 612794","entity_name":"ACTC1","entity_type":"gene"},{"created":"2022-08-12T11:21:20.064533+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACTC1 were set to ","entity_name":"ACTC1","entity_type":"gene"},{"created":"2022-08-12T11:20:52.624000+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTC1","entity_type":"gene"},{"created":"2022-08-12T11:20:21.623507+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACTC1: Added comment: LIMITED to MODERATE association with congenital heart disease.; Changed publications: 31430208, 30384889, 9563954, 14605248, 20600154, 26432839, 17947298, 31430208; Changed phenotypes: Cardiomyopathy, dilated, 1R, MIM# 613424, Cardiomyopathy, hypertrophic, 11, MIM# 612098, Atrial septal defect 5, MIM# 612794","entity_name":"ACTC1","entity_type":"gene"},{"created":"2022-08-12T11:16:00.626972+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM43 as ready","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-08-12T11:16:00.613497+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem43 has been classified as Green List (High Evidence).","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-08-12T11:15:47.807957+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM43 were changed from  to Arrhythmogenic right ventricular dysplasia 5, MIM# 604400; Auditory neuropathy, autosomal dominant 3, MIM# 619832; Emery-Dreifuss muscular dystrophy 7 (MIM#614302)","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-08-12T11:15:23.573005+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM43 were set to ","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-08-12T11:14:49.790885+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM43 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-08-12T11:14:25.758136+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Tag cardiac tag was added to gene: TMEM43.","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-08-12T11:14:15.243906+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: DEFINITIVE by ClinGen, multiple families reported, functional data. Common founder variant  p.Ser358Leu.; to: DEFINITIVE by ClinGen for ARVC, multiple families reported, functional data. Common founder variant  p.Ser358Leu.","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-08-12T11:14:01.881651+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMEM43: Added comment: Association with deafness: MODERATE, two multiplex families with missense variants.\r\n\r\nAssociation with muscular dystrophy LIMITED to MODERATE:\r\nPMID: 21391237 (2011): Different variants reported in 2 adults with EDMD-related myopathy. Ile91Val present in gnomad, 20 hets. Other variant, Glu85Lys, presented in gnomad (1 het)\r\n\r\nPMID: 30311943 (2019): 1 EDMD family reported with the same Glu85Lys variant. Muscle disease suspected at age of 17 in one family member.; Changed publications: 18313022, 21214875, 23812740, 22725725, 24598986, 29980933, 34050020, 21391237, 30311943; Changed phenotypes: Arrhythmogenic right ventricular dysplasia 5, MIM# 604400, Auditory neuropathy, autosomal dominant 3, MIM# 619832, Emery-Dreifuss muscular dystrophy 7 (MIM#614302)","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-08-12T11:12:26.840371+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.143","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM43 as ready","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-08-12T11:12:26.827978+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.143","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem43 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-08-12T11:12:22.799403+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.143","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM43 as Amber List (moderate evidence)","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-08-12T11:12:22.787860+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.143","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem43 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-08-12T11:11:57.528946+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.142","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM43 was added\ngene: TMEM43 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM43 were set to 34050020\nPhenotypes for gene: TMEM43 were set to Auditory neuropathy, autosomal dominant 3, MIM# 619832\nReview for gene: TMEM43 was set to AMBER\nAdded comment: 15 individuals reported from two families with missense variants and deafness. \nSources: Literature","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-08-12T11:10:21.375324+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.130","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: MYH14: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21480433, 35274842; Phenotypes: ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"MYH14","entity_type":"gene"},{"created":"2022-08-12T11:04:08.241130+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RYR2 as ready","entity_name":"RYR2","entity_type":"gene"},{"created":"2022-08-12T11:04:08.231547+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ryr2 has been classified as Green List (High Evidence).","entity_name":"RYR2","entity_type":"gene"},{"created":"2022-08-12T11:04:02.194116+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RYR2 were changed from  to Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772; Arrhythmogenic right ventricular dysplasia 2, MIM# 600996; Hypertrophic cardiomyopathy","entity_name":"RYR2","entity_type":"gene"}]}