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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=781",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=779",
"results": [
{
"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"
},
{
"created": "2022-08-12T11:03:38.101135+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RYR2 were set to ",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2022-08-12T11:03:11.909800+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2022-08-12T11:02:47.921938+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: RYR2.",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2022-08-12T11:02:37.908220+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Gene-disease association assessed as REFUTED by ClinGen: 57 papers reviewed in the process. Some of the original variants were relatively often present in reference alleles from the gnomAD database, clear ARVD diagnosis was not provided, segregation information was not informative and/or CPVT was also present in the family. In a recent review it was also recognized that the observed phenotype in the original three publications that reported RYR2 variants in ARVD for the first time should be catecholamine-induced ventricular tachycardia rather than ARVD, and this gene is no longer considered as ARVD causing (29543670).; to: ARVC: gene-disease association assessed as REFUTED by ClinGen: 57 papers reviewed in the process. Some of the original variants were relatively often present in reference alleles from the gnomAD database, clear ARVD diagnosis was not provided, segregation information was not informative and/or CPVT was also present in the family. In a recent review it was also recognized that the observed phenotype in the original three publications that reported RYR2 variants in ARVD for the first time should be catecholamine-induced ventricular tachycardia rather than ARVD, and this gene is no longer considered as ARVD causing (29543670).",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2022-08-12T11:02:25.617183+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RYR2: Added comment: DEFINITVE for CPVT.\r\n\r\nREFUTED for ARVC.\r\n\r\nLIMITED for HCM.; Changed rating: GREEN; Changed publications: 11159936, 25041964, 29543670, 11208676, 12093772; Changed phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772, Arrhythmogenic right ventricular dysplasia 2, MIM# 600996, Hypertrophic cardiomyopathy",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2022-08-12T10:58:37.807336+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: PKP2.",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2022-08-12T10:58:17.645903+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: LMNA.",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2022-08-12T10:58:00.723014+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: DSP.",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2022-08-12T10:57:40.823654+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: DSG2.",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2022-08-12T10:55:28.674293+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: DSC2.",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2022-08-12T10:48:17.414889+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKP2 as ready",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2022-08-12T10:48:17.401812+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkp2 has been classified as Green List (High Evidence).",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2022-08-12T10:46:18.999321+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKP2 were changed from to Arrhythmogenic right ventricular dysplasia 9, MIM# 609040",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2022-08-12T10:45:46.880531+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PKP2 were set to ",
"entity_name": "PKP2",
"entity_type": "gene"
}
]
}