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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=556",
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"results": [
{
"created": "2023-08-29T17:26:26.656605+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLG were changed from to autosomal dominant progressive external ophthalmoplegia MONDO:0008003",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:25:35.301451+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLG were set to ",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:24:56.059303+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:24:02.904081+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKRA as ready",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:24:02.873206+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkra has been classified as Green List (High Evidence).",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:23:59.767924+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKRA were changed from to dystonia 16 MONDO:0012789",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:22:53.653299+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKRA were set to ",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:22:16.766791+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKRA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:20:55.266631+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRNP as ready",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:20:55.249947+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prnp has been classified as Green List (High Evidence).",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:19:40.584244+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRNP were changed from to inherited Creutzfeldt-Jakob disease MONDO:0007403; Gerstmann-Straussler-Scheinker syndrome MONDO:0007656",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:18:52.662429+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRNP were set to ",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:18:15.010009+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRNP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:16:45.557123+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: STAT5B.",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:16:31.284271+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Both bi-allelic and mono allelic (GoF) inheritance reported. AD GoF phenotype: increased IgE, growth failure, eczema but no immune defects compared to AR phenotype (modestly decreased T cells, reduced Tregs and function, hypergammaglobulinaemia, increased IgE).; to: Both bi-allelic and mono allelic (GoF) inheritance reported. AD GoF phenotype: increased IgE, growth failure, eczema but no immune defects compared to AR phenotype (modestly decreased T cells, reduced Tregs and function, hypergammaglobulinaemia, increased IgE).\r\n\r\nSomatic variants also reported.",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:15:53.191513+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: STAT5B.",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:14:49.583732+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RRM2B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2023-08-29T10:59:49.051827+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: SQSTM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:18:13.630160+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TPMT as Green List (high evidence)",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:18:13.622299+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tpmt has been classified as Green List (High Evidence).",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:17:50.195765+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLCO1B1 as ready",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:17:50.173991+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slco1b1 has been classified as Green List (High Evidence).",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:17:46.237744+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLCO1B1 as Green List (high evidence)",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:17:46.228801+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slco1b1 has been classified as Green List (High Evidence).",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:17:31.155259+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NUDT15 as ready",
"entity_name": "NUDT15",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:17:31.134144+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nudt15 has been classified as Green List (High Evidence).",
"entity_name": "NUDT15",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:17:27.687833+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NUDT15 as Green List (high evidence)",
"entity_name": "NUDT15",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:17:27.680312+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nudt15 has been classified as Green List (High Evidence).",
"entity_name": "NUDT15",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:17:17.697563+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MT-RNR1 as ready",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:17:17.689450+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mt-rnr1 has been classified as Green List (High Evidence).",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:17:08.712987+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MT-RNR1 as Green List (high evidence)",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:17:08.702609+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mt-rnr1 has been classified as Green List (High Evidence).",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:17:00.269339+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IFNL3 as ready",
"entity_name": "IFNL3",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:17:00.249210+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ifnl3 has been classified as Green List (High Evidence).",
"entity_name": "IFNL3",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:16:56.894939+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IFNL3 as Green List (high evidence)",
"entity_name": "IFNL3",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:16:56.875871+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ifnl3 has been classified as Green List (High Evidence).",
"entity_name": "IFNL3",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:16:48.079088+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DPYD as ready",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:16:48.066625+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dpyd has been classified as Green List (High Evidence).",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:16:45.324774+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DPYD as Green List (high evidence)",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:16:45.304901+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dpyd has been classified as Green List (High Evidence).",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:16:34.736734+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CYP4F2 as ready",
"entity_name": "CYP4F2",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:16:34.725886+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyp4f2 has been classified as Green List (High Evidence).",
"entity_name": "CYP4F2",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:16:31.751623+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CYP4F2 as Green List (high evidence)",
"entity_name": "CYP4F2",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:16:31.742580+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyp4f2 has been classified as Green List (High Evidence).",
"entity_name": "CYP4F2",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:13:54.939454+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: UGT1A1 as ready",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:13:54.930366+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ugt1a1 has been classified as Green List (High Evidence).",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:13:51.787708+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: UGT1A1 as Green List (high evidence)",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:13:51.769632+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ugt1a1 has been classified as Green List (High Evidence).",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:13:39.526173+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CYP3A5 as ready",
"entity_name": "CYP3A5",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:13:39.514915+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyp3a5 has been classified as Green List (High Evidence).",
"entity_name": "CYP3A5",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:13:34.048857+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CYP3A5 as Green List (high evidence)",
"entity_name": "CYP3A5",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:13:34.039087+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyp3a5 has been classified as Green List (High Evidence).",
"entity_name": "CYP3A5",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:13:06.246055+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CYP2C9 as ready",
"entity_name": "CYP2C9",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:13:06.227763+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyp2c9 has been classified as Green List (High Evidence).",
"entity_name": "CYP2C9",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:13:01.005571+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CYP2C9 as Green List (high evidence)",
"entity_name": "CYP2C9",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:13:00.992729+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyp2c9 has been classified as Green List (High Evidence).",
"entity_name": "CYP2C9",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:12:43.062588+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CYP2C19 as ready",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:12:43.044112+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyp2c19 has been classified as Green List (High Evidence).",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:12:32.786237+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CYP2C19 as Green List (high evidence)",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2023-08-28T17:12:32.776246+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyp2c19 has been classified as Green List (High Evidence).",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2023-08-28T16:08:56.587790+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.187",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO31 were changed from Cerebral palsy to Cerebral palsy, MONDO:0006497, FBXO31-related",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2023-08-28T15:28:37.597398+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.43",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 27956386; Phenotypes: Eosinophilia; Mode of inheritance: Other",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2023-08-28T11:19:17.035416+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5337",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FBXO31: Rating: AMBER; Mode of pathogenicity: None; Publications: 35019165, 24623383; Phenotypes: intellectual developmental disorder 45 (MIM#615979); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2023-08-27T17:23:57.571098+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPOX were changed from Porphyria variegata, MIM# 176200 to Porphyria variegata, MIM# 176200; Variegate porphyria, childhood-onset, MIM# 620483",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2023-08-27T17:23:37.913276+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPOX were set to 27982422",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2023-08-27T17:22:54.926425+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPOX: Changed publications: 9811936, 11286631, 33159949",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2023-08-27T17:22:39.022800+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Variegate porphyria, childhood-onset, MIM# 620483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2023-08-27T17:21:43.322173+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPOX were changed from Porphyria variegata, MIM#\t176200 to Porphyria variegata, MIM#\t176200; Variegate porphyria, childhood-onset, MIM# 620483",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2023-08-27T17:21:19.910596+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPOX were set to ",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2023-08-27T17:20:17.981220+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2023-08-27T17:19:57.088737+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPOX: Added comment: Bi-allelic variants cause childhood onset disease.; Changed publications: 9811936, 11286631, 33159949; Changed phenotypes: Porphyria variegata, MIM# 176200, Variegate porphyria, childhood-onset, MIM# 620483; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2023-08-27T17:19:46.985797+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPOX were set to 12357337; 32247286; 23324528",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2023-08-27T17:19:11.895681+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2023-08-27T17:18:40.037967+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 9811936, 11286631, 33159949; Phenotypes: Variegate porphyria, childhood-onset, MIM# 620483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2023-08-27T17:18:34.276420+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPOX were changed from Porphyria variegata , MIM#176200 to Porphyria variegata , MIM#176200; Variegate porphyria, childhood-onset, MIM# 620483",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2023-08-27T17:18:11.762770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPOX were set to 12357337; 32247286; 23324528; 27982422",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2023-08-27T17:17:43.800402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2023-08-27T17:17:06.602836+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPOX: Added comment: Bi-allelic variants cause childhood onset disease.; Changed publications: 12357337, 32247286, 23324528, 27982422, 9811936, 11286631, 33159949; Changed phenotypes: Porphyria variegata , MIM#176200, Variegate porphyria, childhood-onset, MIM# 620483; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2023-08-26T12:36:33.055692+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THPO were changed from Thrombocythemia 1, MIM# 187950 to Thrombocythemia 1, MIM# 187950; Thrombocytopenia 9, MIM# 620478",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2023-08-26T12:36:03.979793+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THPO were set to 9425899; 10583217",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2023-08-26T12:35:40.176904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: THPO: Added comment: Thrombocytopenia: 5 unrelated families reported.; Changed publications: 9425899, 10583217, 32150607, 28466964; Changed phenotypes: Thrombocythemia 1, MIM# 187950, Thrombocytopenia 9, MIM# 620478",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2023-08-26T12:35:00.749751+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THPO were set to 9425899; 10583217",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2023-08-26T12:33:23.455448+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THPO were changed from Thrombocythemia 1, MIM#\t187950 to Thrombocythemia 1, MIM#\t187950; Thrombocytopenia 9, MIM# 620478",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2023-08-26T12:31:44.460464+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: THPO: Added comment: Thrombocytopenia: 5 unrelated families reported.; Changed publications: 9425899, 10583217, 32150607, 28466964; Changed phenotypes: Thrombocythemia 1, MIM# 187950, Thrombocytopenia 9, MIM# 620478",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2023-08-26T12:29:27.025029+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome 1, MIM# 243310; ACTB-related neurodevelopment disorder to Baraitser-Winter syndrome 1, MIM# 243310; Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475; ACTB-related neurodevelopment disorder",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-08-26T12:28:47.509253+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACTB: Changed phenotypes: Baraitser-Winter syndrome 1 243310, ACTB-related neurodevelopment disorder, Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-08-26T12:28:08.762940+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome 1 243310; ACTB-related neurodevelopment disorder to Baraitser-Winter syndrome 1 243310; Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475; ACTB-related neurodevelopment disorder",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-08-26T12:27:43.202077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-08-26T12:27:08.432183+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTB were changed from Syndromic thrombocytopaenia to Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-08-26T12:26:29.044434+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACTB: Changed phenotypes: Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-08-25T16:19:30.249250+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 3548932, 34843019, 36825052; Phenotypes: early-onset parkinsons disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2023-08-25T15:59:08.071024+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.4",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "gene: MT-RNR1 was added\ngene: MT-RNR1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list\nMode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL\nPhenotypes for gene: MT-RNR1 were set to Deafness, mitochondrial, modifier of MIM# 580000\nReview for gene: MT-RNR1 was set to GREEN\nAdded comment: Multiple variations within the MT-RNR1 gene have been associated with the development of hearing loss in patients who receive aminoglycoside antibiotics. Aminoglycosides are a class of antibiotics that includes drugs such as streptomycin, kanamycin, gentamycin and tobramycin, among others. \r\n\r\nhttps://www.pharmgkb.org/gene/PA31274\r\n\r\nThe 1555A>G variation in the MT-RNR1 gene is strongly associated with the development of bilateral, sensorineural, nonsyndromic hearing loss following aminoglycoside antibiotic use: across 40 studies in either family pedigrees or groups of patients with hearing loss, 100% of those with the MT-RNR1 1555G variant who received an aminoglycoside antibiotic developed hearing loss. (PMID:9164619) \nSources: Expert list",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2023-08-25T15:51:48.681332+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.4",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic anemia, G6PD deficient (favism) MIM# 300908; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2023-08-25T15:43:44.113649+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301407; Phenotypes: inherited Creutzfeldt-Jakob disease MONDO:0007403, Gerstmann-Straussler-Scheinker syndrome MONDO:0007656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-08-25T15:41:34.632134+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: AMN was added\ngene: AMN was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMN were set to Imerslund-Grasbeck syndrome 2 (MIM#618882)\nReview for gene: AMN was set to AMBER\nAdded comment: Well established gene-disease association.\r\n\r\nImerslund-Grasbeck syndrome-2 (IGS2) is an autosomal recessive disorder characterized by onset of megaloblastic anaemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood.\r\n\r\nClinical features include failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. \nSources: Literature",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2023-08-25T15:40:39.110666+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.4",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "gene: IFNL3 was added\ngene: IFNL3 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list\nMode of inheritance for gene: IFNL3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: IFNL3 were set to 19749758; 19684573; 24752298\nPhenotypes for gene: IFNL3 were set to Hepatitis C virus infection, response to therapy of MIM# 609532\nReview for gene: IFNL3 was set to GREEN\nAdded comment: https://www.pharmgkb.org/gene/PA134952671/overview\r\n\r\nIFNL3 encodes IL28B, a class II cytokine receptor.\r\n\r\nSuppiah et al., (2009) reported an association to sustained virological response (SVR) within the gene region encoding interleukin 28B. IL28B contributes to viral resistance and is known to be upregulated by interferons and by RNA virus infection. This data suggests that host genetics may be useful for the prediction of drug response, and they also support the investigation of the role of IL28B in the treatment of HCV and in other diseases treated with IFN-alpha. (PMID: 19749758)\r\n\r\nThe CC genotype of rs12979860 was associated with an approximately 2-fold greater rate of SVR compared with the TT genotype (PMID: 19684573, 24752298). \nSources: Expert list",
"entity_name": "IFNL3",
"entity_type": "gene"
},
{
"created": "2023-08-25T15:19:19.185837+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 33502045; Phenotypes: dystonia 16 MONDO:0012789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2023-08-25T15:05:44.270997+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301791, 15351195; Phenotypes: autosomal dominant progressive external ophthalmoplegia MONDO:0008003; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2023-08-25T14:55:18.573280+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.4",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia MIM# 117000, Congenital myopathy 1B, autosomal recessive MIM# 255320, King-Denborough syndrome MIM# 619542, Malignant hyperthermia susceptibility MIM# 145600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2023-08-25T14:50:43.356921+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301718; Phenotypes: autosomal recessive Parkinson disease 14 MONDO:0013060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G6",
"entity_type": "gene"
}
]
}