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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=559",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=557",
"results": [
{
"created": "2023-08-22T09:19:35.528673+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag review tag was added to gene: CACNA1S.",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2023-08-22T09:17:56.960677+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: BRCA2 as ready",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2023-08-22T09:17:56.951230+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: brca2 has been classified as Green List (High Evidence).",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2023-08-22T09:15:49.677027+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag cancer tag was added to gene: BRCA2.",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2023-08-22T09:15:33.363700+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: BRCA2 were changed from to Breast-ovarian cancer, familial, 2, MIM#612555",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2023-08-22T08:54:46.816981+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.257",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRCA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2023-08-22T08:54:06.620305+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.256",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: BRCA1 as ready",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2023-08-22T08:54:06.610101+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.256",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: brca1 has been classified as Green List (High Evidence).",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2023-08-22T08:53:51.360367+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.256",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: BRCA1 were changed from to Breast-ovarian cancer, familial, 1, MIM# 604370",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2023-08-22T08:51:35.266155+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.255",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRCA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2023-08-22T08:38:17.705080+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.254",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag cancer tag was added to gene: BAP1.",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2023-08-22T03:46:45.960533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1117",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Four children from two sibships from an extended consanguineous Palestinian family were reported with congenital profound hearing loss, whereas the parents of both sibships are first cousins with normal hearing. The families reported occasional febrile seizures in infancy for each of the deaf children, but these did not persist into adolescence. These affected children were identified with autosomal recessive GOSR2 variant, c.1A > C, p.Met1Leu. This variant appeared once in the gnomAD database, as a heterozygote, and not in any of ~2000 in-house controls of Palestinian ancestry. \r\n\r\nAll previously reported cases with biallelic GOSR2 variants had normal hearing and hence the differences in translation efficiency due to the effect of this variant may be responsible for this hearing loss phenotype (PMID:37074134).; to: This gene should be added in 'Deafness_IsolatedAndComplex' panel with red rating.\r\n\r\nFour children from two sibships from an extended consanguineous Palestinian family were reported with congenital profound hearing loss, whereas the parents of both sibships are first cousins with normal hearing. The families reported occasional febrile seizures in infancy for each of the deaf children, but these did not persist into adolescence. These affected children were identified with autosomal recessive GOSR2 variant, c.1A > C, p.Met1Leu. This variant appeared once in the gnomAD database, as a heterozygote, and not in any of ~2000 in-house controls of Palestinian ancestry. \r\n\r\nAll previously reported cases with biallelic GOSR2 variants had normal hearing and hence the differences in translation efficiency due to the effect of this variant may be responsible for this hearing loss phenotype (PMID:37074134).",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2023-08-22T03:45:03.623800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1117",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: None; Publications: 37074134; Phenotypes: hearing loss, autosomal recessive, MONDO:0019588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2023-08-21T19:01:39.579495+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: UMPS.",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2023-08-21T19:00:55.666048+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: SMN1.",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2023-08-21T19:00:05.327464+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: OAT.",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:59:46.061173+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: MLH1.",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:59:24.729783+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: KCNJ2.\nTag treatable tag was added to gene: KCNJ2.",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:58:42.857028+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: HIBCH.",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:56:34.797645+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: NIPAL4.\nTag treatable tag was added to gene: NIPAL4.\nTag dermatological tag was added to gene: NIPAL4.",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:54:47.503270+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SAMD9.\nTag endocrine tag was added to gene: SAMD9.\nTag haematological tag was added to gene: SAMD9.",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:53:47.091944+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: PDP1.\nTag metabolic tag was added to gene: PDP1.",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:52:34.544783+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GFI1.",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:52:11.432181+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GFI1.",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:51:55.430989+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GFI1.",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:51:41.949469+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GFI1.\nTag immunological tag was added to gene: GFI1.",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:50:53.551291+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: DLAT.\nTag metabolic tag was added to gene: DLAT.",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:49:55.770053+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CORO1A.",
"entity_name": "CORO1A",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:49:36.163695+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CORO1A.",
"entity_name": "CORO1A",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:49:08.166893+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CORO1A.\nTag immunological tag was added to gene: CORO1A.",
"entity_name": "CORO1A",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:48:13.740437+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD70.",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:48:00.016742+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD70.",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:47:33.229528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD70.",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:47:03.932872+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD70.\nTag immunological tag was added to gene: CD70.",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:46:20.221817+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD40.",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:45:56.686742+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD40.",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:45:36.834381+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD40.\nTag immunological tag was added to gene: CD40.",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2023-08-21T18:20:58.375142+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag skeletal tag was added to gene: BMP1.",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:36:21.472927+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.254",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ATP7B were set to ",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:35:53.473002+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.253",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ATP7B.",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:35:51.229456+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.253",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:34:42.085869+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.252",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ATP7B were changed from to Wilson Disease (MONDO:0010200; MIM #277900)",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:28:10.957920+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.251",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATP13A2 as ready",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:28:10.930338+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.251",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp13a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:27:24.586886+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.251",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ATP13A2 were changed from to Kufor-Rakeb syndrome, MIM# 606693",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:26:06.997764+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.250",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP13A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:25:33.459810+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.249",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag neurological tag was added to gene: ATP13A2.",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:25:09.861888+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.249",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: APP as ready",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:25:09.841901+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.249",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: app has been classified as Green List (High Evidence).",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:24:46.546137+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.249",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: APP were changed from to Alzheimer's Disease (MIM#104300)",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:24:01.341279+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.248",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: APP were set to ",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:23:35.491850+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.247",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: APP was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:23:03.327788+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.246",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: APP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:22:30.993065+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.245",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag adult onset neurodegenerative tag was added to gene: APP.",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:22:12.625094+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.245",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: APOE were changed from Alzheimer disease 2, MIM# 104310 to Alzheimer disease 2, MIM# 104310; Hyperlipoproteinemia, type III (MIM#617347); Sea-blue histiocyte disease (MIM#269600)",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:21:03.442436+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.244",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag adult onset neurodegenerative tag was added to gene: APOE.",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:18:31.250747+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.243",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: APOE were changed from to Alzheimer disease 2, MIM# 104310",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:14:26.893541+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.242",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: APOB as ready",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:14:26.885613+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.242",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: apob has been classified as Green List (High Evidence).",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:14:18.964706+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.242",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:12:25.288590+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.241",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: APOB were changed from to Hypercholesterolemia, familial, 2, MIM# 144010",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:12:03.238941+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.240",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:11:28.417572+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.239",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: APOB.",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:08:24.665051+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.238",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ANG as ready",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:08:24.654315+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.238",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ang has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:08:12.223871+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.238",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ANG were changed from to Amyotrophic Lateral Sclerosis (MONDO: 0012753; MIM#611895)",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:07:45.363865+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.237",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ANG were set to ",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:07:12.544753+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.236",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag neurological tag was added to gene: ANG.",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:07:12.088800+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.236",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:06:50.986941+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.235",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:06:30.439782+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.235",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ANG as Amber List (moderate evidence)",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-08-21T17:06:30.412296+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.235",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ang has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:49:59.278625+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-08-21T16:48:50.186002+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Assigned amber because HNRNPA2B1 is a multisystem proteinopathy gene, with includes ALS in the spectrum of phenotypes; to: Comment on list classification: Assigned amber because HNRNPA2B1 is a multisystem proteinopathy gene, which includes ALS in the spectrum of phenotypes",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:48:43.046405+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HNRNPA2B1 as Amber List (moderate evidence)",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:48:43.039776+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Assigned amber because HNRNPA2B1 is a multisystem proteinopathy gene, which includes ALS in the spectrum of phenotypes",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:48:43.011649+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:48:13.602063+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HNRNPA2B1 as Amber List (moderate evidence)",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:48:13.596839+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Assigned amber because HNRNPA2B1 is a multisystem proteinopathy gene, with includes ALS in the spectrum of phenotypes",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:48:13.566570+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:44:32.391286+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EWSR1 as ready",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:44:32.381704+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ewsr1 has been classified as Red List (Low Evidence).",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:44:12.713757+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERLIN1 as ready",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:44:12.700259+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: erlin1 has been classified as Red List (Low Evidence).",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:42:48.599566+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DAO as ready",
"entity_name": "DAO",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:42:48.581775+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dao has been classified as Red List (Low Evidence).",
"entity_name": "DAO",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:35:05.046246+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: CCNF: Changed rating: AMBER",
"entity_name": "CCNF",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:33:26.798474+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-08-21T16:18:11.915305+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NR4A2 as ready",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:18:11.900726+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nr4a2 has been classified as Red List (Low Evidence).",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:13:38.573259+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HTRA2 as ready",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:13:38.560533+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: htra2 has been classified as Red List (Low Evidence).",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:12:47.791091+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TIA1 as ready",
"entity_name": "TIA1",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:12:47.778152+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tia1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIA1",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:09:44.844115+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TIA1 as Amber List (moderate evidence)",
"entity_name": "TIA1",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:09:44.834031+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tia1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIA1",
"entity_type": "gene"
},
{
"created": "2023-08-21T16:07:43.531693+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.220",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TIA1 was added\ngene: TIA1 was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for gene: TIA1 was set to Other\nPublications for gene: TIA1 were set to 36861178; 29599744; 29457785\nPhenotypes for gene: TIA1 were set to Multisystem proteinopathy\nReview for gene: TIA1 was set to AMBER\nAdded comment: Digenic variants in SQSTM1 and TIA1 have been reported in multisystem proteinopathy which includes clinical combinations of inclusion body myopathy (IBM), neurodegeneration [motor neuron disorder (MND)/frontotemporal dementia (FTD)], and Paget disease of bone (PDB). FTD has reported in at least one individual with FTD as a feature of the phenotype. \nSources: Literature",
"entity_name": "TIA1",
"entity_type": "gene"
},
{
"created": "2023-08-21T15:31:43.059029+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HNRNPA1 as Amber List (moderate evidence)",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2023-08-21T15:31:43.053676+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Included as an amber gene because the gene is associated with multisystem proteinopathy, which FTD can be a feature. No FTD has been reported in association with this gene.",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2023-08-21T15:31:43.015157+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hnrnpa1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HNRNPA1",
"entity_type": "gene"
}
]
}