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{
"count": 220437,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=780",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=778",
"results": [
{
"created": "2022-08-13T17:31:36.668098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMG9: Added comment: PMID 35087184: 5 individuals from 3 unrelated Finnish families reported with same homozygous missense variant (founder effect) and predominantly neurological phenotype. Uncertain if this is a distinct disorder or part of a spectrum with the previously reported cases.; Changed publications: 27018474, 31390136, 35087184; Changed phenotypes: Heart and brain malformation syndrome, MIM# 616920, Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2022-08-13T10:52:18.119430+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.116",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: PAX5 was added\ngene: PAX5 was added to Predominantly Antibody Deficiency. Sources: Literature\nMode of inheritance for gene: PAX5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PAX5 were set to PMID: 35947077\nPhenotypes for gene: PAX5 were set to Hypogammaglobulinaemia\nReview for gene: PAX5 was set to AMBER\nAdded comment: 2.5yo male with recurrent infections and hypogammaglobulinaemia, later also ASD, sensorimotor and cognitive defects. Functional studies showing reduced B cells. Mouse model replicating partial B cell developmental arrest. \nSources: Literature",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:48:46.517931+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH14 as ready",
"entity_name": "MYH14",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:48:46.506010+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh14 has been classified as Green List (High Evidence).",
"entity_name": "MYH14",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:48:39.749221+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH14 were changed from ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; HMSN to Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369",
"entity_name": "MYH14",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:48:23.910988+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYH14 were set to ",
"entity_name": "MYH14",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:47:44.610985+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYH14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH14",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:46:23.777362+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult onset neurodegenerative tag was added to gene: ANXA11.",
"entity_name": "ANXA11",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:42:46.283998+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.130",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "edited their review of gene: MYH14: Added comment: PMID: 21480433 - 1 large Korean fam with peripheral neuropathy, myopathy, hoarseness, and hearing loss. Missense variant (p.R941L) found to segregate in all affecteds, but not all presented with hearing loss.\r\n\r\nPMID: 35274842 - same authors as PMID: 21480433, report a second Korean family with a similar presentation to the first and the missense p.R941L. \r\n- Reviews literature reporting an additional 2 families (American, Canadian) with this same p.R941L variant, who presented with distal HMN and hearing loss or CMT with hearing loss (PMID:31231018;27875632). These multigenerational families were Caucasian or not described, with no de novo evidence shown. Authors speculate recurrence due to the broad geographical location where families have been described.\r\n\r\n\r\nSingle recurring missense appears to be responsible for this phenotype; Changed rating: GREEN; Changed publications: PMID: 21480433, 35274842, 31231018, 27875632",
"entity_name": "MYH14",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:41:29.775824+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APC as ready",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:41:29.767802+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apc has been classified as Green List (High Evidence).",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:41:26.402387+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APC were changed from to Adenomatous polyposis coli, MIM# 175100",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:40:54.035841+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: APC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:40:31.345241+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cancer tag was added to gene: APC.",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:40:21.884507+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomatous polyposis coli, MIM# 175100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:36:31.019305+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: A2M as ready",
"entity_name": "A2M",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:36:31.010274+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: a2m has been classified as Red List (Low Evidence).",
"entity_name": "A2M",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:36:27.885709+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: A2M were changed from to Alzheimer disease, MONDO:0004975",
"entity_name": "A2M",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:36:00.633901+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: A2M was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "A2M",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:35:36.514016+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: A2M as Red List (low evidence)",
"entity_name": "A2M",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:35:36.496260+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: a2m has been classified as Red List (Low Evidence).",
"entity_name": "A2M",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:35:11.493924+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult onset neurodegenerative tag was added to gene: A2M.",
"entity_name": "A2M",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:34:46.584577+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: A2M: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alzheimer disease, MONDO:0004975; Mode of inheritance: None",
"entity_name": "A2M",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:06:50.247201+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GPD1L: Changed rating: RED",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:06:12.064917+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: GPD1L.",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:05:13.698188+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: ANK2.",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:03:59.802456+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: TNNT2.",
"entity_name": "TNNT2",
"entity_type": "gene"
},
{
"created": "2022-08-12T15:00:16.986426+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: KCNE1.",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:58:02.108994+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag review tag was added to gene: CACNA1C.",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:55:11.448912+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: CASQ2.",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:54:42.653713+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASQ2 as ready",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:54:42.636578+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casq2 has been classified as Green List (High Evidence).",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:54:37.884458+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASQ2 were changed from to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:54:12.892666+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CASQ2 were set to ",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:53:42.101787+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASQ2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:53:12.883079+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:37:48.646081+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNTA1 as ready",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:37:48.633937+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snta1 has been classified as Red List (Low Evidence).",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:37:46.405935+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNTA1 were changed from to Long QT syndrome 12, MIM# 612955",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:37:21.452699+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNTA1 were set to ",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:36:49.008560+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:36:19.859231+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNTA1 as Red List (low evidence)",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:36:19.850415+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snta1 has been classified as Red List (Low Evidence).",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:35:55.152568+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SNTA1.\nTag cardiac tag was added to gene: SNTA1.",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:35:41.640338+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 12, MIM# 612955; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:33:59.576119+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SCN4B.",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:32:48.361860+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN4B as ready",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:32:48.349682+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn4b has been classified as Red List (Low Evidence).",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:32:26.862109+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN4B were changed from to Long QT syndrome 10, MIM#\t611819",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:31:48.969230+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN4B were set to ",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:31:21.465651+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:30:56.222037+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN4B as Red List (low evidence)",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:30:56.213716+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn4b has been classified as Red List (Low Evidence).",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:30:16.140057+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: SCN4B.",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:27:22.076072+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNE2 as ready",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:27:22.067613+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcne2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:27:19.199040+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNE2 were changed from to Long QT syndrome 6, MIM# 613693",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:26:53.965435+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNE2 were set to ",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:26:01.182489+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNE2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:25:37.718649+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNE2 as Amber List (moderate evidence)",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:25:37.707261+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcne2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:25:13.162875+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: KCNE2.",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:25:01.648184+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNE2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 6, MIM# 613693; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:21:57.795088+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNE1 as ready",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:21:57.782844+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcne1 has been classified as Green List (High Evidence).",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:21:44.904006+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNE1 were changed from to Jervell and Lange-Nielsen syndrome 2, MIM# 612347; Long QT syndrome 5, MIM# 613695",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:21:16.939048+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:20:46.856230+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNE1: Changed rating: GREEN; Changed phenotypes: Jervell and Lange-Nielsen syndrome 2, MIM# 612347, Long QT syndrome 5, MIM# 613695; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:09:49.695037+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: KCNQ1.",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:09:41.415610+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ1 as ready",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:09:41.406777+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq1 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:09:38.444199+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ1 were changed from to Long QT syndrome 1, MIM# 192500; Short QT syndrome 2, MIM# 609621; Jervell and Lange-Nielsen syndrome, MIM# 220400; Atrial fibrillation, familial, 3, MIM# 607554",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:09:02.555011+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:08:01.886539+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 1, MIM# 192500, Short QT syndrome 2, MIM# 609621, Jervell and Lange-Nielsen syndrome, MIM# 220400, Atrial fibrillation, familial, 3, MIM# 607554; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:02:57.151571+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: KCNH2.",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:02:30.879300+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNH2 as ready",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:02:30.866675+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnh2 has been classified as Green List (High Evidence).",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:02:19.520502+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNH2 were changed from to Long QT syndrome 2, MIM# 613688; Short QT syndrome , MIM#1 609620",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:01:54.880061+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNH2 were set to ",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:01:17.877210+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2022-08-12T14:00:49.068098+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 2, MIM# 613688, Short QT syndrome , MIM#1 609620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2022-08-12T13:58:28.858600+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: CACNB2.",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2022-08-12T13:58:08.979068+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNB2 as ready",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2022-08-12T13:58:08.970769+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacnb2 has been classified as Red List (Low Evidence).",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2022-08-12T13:58:03.777647+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNB2 were changed from to Brugada syndrome 4, MIM# 611876",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2022-08-12T13:57:12.279529+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNB2 were set to ",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2022-08-12T13:56:48.012777+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2022-08-12T13:56:22.201474+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNB2 as Red List (low evidence)",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2022-08-12T13:56:22.192232+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacnb2 has been classified as Red List (Low Evidence).",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2022-08-12T13:55:52.936205+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNB2: Rating: RED; Mode of pathogenicity: None; Publications: 29959160; Phenotypes: Brugada syndrome 4, MIM# 611876; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2022-08-12T13:50:06.628462+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: PRKAG2.",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2022-08-12T13:49:57.069513+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKAG2 as ready",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2022-08-12T13:49:57.060138+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkag2 has been classified as Green List (High Evidence).",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2022-08-12T13:49:53.554904+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, MIM# 600858; Glycogen storage disease of heart, lethal congenital, MIM# 261740",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2022-08-12T13:49:29.269988+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKAG2 were set to ",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2022-08-12T13:48:47.187756+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKAG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2022-08-12T13:48:20.140135+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2022-08-12T13:48:16.511523+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRKAG2: Added comment: Variants associated with cardiomyopathy, conduction disease, and ventricular pre-excitation. More than 50 unrelated individuals reported. Can present with isolated HCM.; Changed publications: 15877279, 17667862, 32646569; Changed phenotypes: Cardiomyopathy, hypertrophic 6, MIM# 600858, Glycogen storage disease of heart, lethal congenital, MIM# 261740",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2022-08-12T12:58:10.837428+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: MYL3.",
"entity_name": "MYL3",
"entity_type": "gene"
},
{
"created": "2022-08-12T12:57:49.911632+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYL3 as ready",
"entity_name": "MYL3",
"entity_type": "gene"
}
]
}