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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1711",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1709",
"results": [
{
"created": "2020-07-27T11:19:32.409128+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad9 has been classified as Green List (High Evidence).",
"entity_name": "SMAD9",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:19:05.991963+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX17 as ready",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:19:05.981411+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox17 has been classified as Green List (High Evidence).",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:19:03.449643+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3 MIM#613674 to Vesicoureteral reflux 3 MIM#613674; Pulmonary arterial hypertension",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:18:53.077253+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX17 were set to ",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:18:22.969423+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX4 as ready",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:18:22.959478+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx4 has been classified as Green List (High Evidence).",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:17:46.608037+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP10 as ready",
"entity_name": "BMP10",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:17:46.599636+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BMP10",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:17:38.530058+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BMP10 as Amber List (moderate evidence)",
"entity_name": "BMP10",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:17:38.521859+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BMP10",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:17:23.473934+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMP10 was added\ngene: BMP10 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: BMP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMP10 were set to 30578383\nPhenotypes for gene: BMP10 were set to Pulmonary arterial hypertension\nReview for gene: BMP10 was set to AMBER\nAdded comment: A truncating mutation and a predicted loss-of-function missense variant were identified in BMP10 in two severely affected sporadic PAH female patients. \nSources: Expert list",
"entity_name": "BMP10",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:15:43.511357+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP10 as ready",
"entity_name": "BMP10",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:15:43.501989+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BMP10",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:14:27.642722+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: G6PD as ready",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:14:27.638214+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Multiple reports of variants in G6PD reported in individuals with PAH, mechanism unclear.",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:14:27.607608+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pd has been classified as Amber List (Moderate Evidence).",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:07:24.193453+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH3 as ready",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:07:24.180011+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:06:39.193622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD1 as ready",
"entity_name": "SMAD1",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:06:39.182723+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMAD1",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:06:29.881852+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMAD1 as Amber List (moderate evidence)",
"entity_name": "SMAD1",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:06:29.871494+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMAD1",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:06:12.787063+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMAD1 was added\ngene: SMAD1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SMAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD1 were set to 21898662; 23478097\nPhenotypes for gene: SMAD1 were set to Pulmonary arterial hypertension\nReview for gene: SMAD1 was set to AMBER\nAdded comment: One missense variant identified in a PAH case. Mouse model is consistent with pulmonary hypertension. \nSources: Expert list",
"entity_name": "SMAD1",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:04:38.494456+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD1 as ready",
"entity_name": "SMAD1",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:04:38.484021+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMAD1",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:04:19.582460+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD4 as ready",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:04:19.573035+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:02:11.094857+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMPR1B as ready",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:02:11.082755+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmpr1b has been classified as Red List (Low Evidence).",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:01:59.492058+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMPR1B were set to ",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:01:50.018109+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: BMPR1B was changed from None to Other",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:01:43.319126+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMPR1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:00:01.461393+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRAP as ready",
"entity_name": "BRAP",
"entity_type": "gene"
},
{
"created": "2020-07-27T11:00:01.452751+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brap has been classified as Red List (Low Evidence).",
"entity_name": "BRAP",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:59:51.435854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRAP was added\ngene: BRAP was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: BRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BRAP were set to 30703135\nPhenotypes for gene: BRAP were set to Pulmonary arterial hypertension\nReview for gene: BRAP was set to RED\nAdded comment: A single BRAP missense variant in a Japanese family with PAH, with in vitro functional assays suggesting a gain-of-function. \nSources: Expert list",
"entity_name": "BRAP",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:58:24.924265+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRAP as ready",
"entity_name": "BRAP",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:58:24.913633+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brap has been classified as Red List (Low Evidence).",
"entity_name": "BRAP",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:56:08.928052+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDR as ready",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:56:08.917332+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdr has been classified as Amber List (Moderate Evidence).",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:55:59.251663+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDR as Amber List (moderate evidence)",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:55:59.238411+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdr has been classified as Amber List (Moderate Evidence).",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:55:31.417540+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLF2 as ready",
"entity_name": "KLF2",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:55:31.407457+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf2 has been classified as Red List (Low Evidence).",
"entity_name": "KLF2",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:55:22.828202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLF2 was added\ngene: KLF2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: KLF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLF2 were set to 28188237\nPhenotypes for gene: KLF2 were set to Pulmonary arterial hypertension\nReview for gene: KLF2 was set to RED\nAdded comment: Single family reported. \nSources: Expert list",
"entity_name": "KLF2",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:54:18.936623+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLF2 as ready",
"entity_name": "KLF2",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:54:18.925084+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf2 has been classified as Red List (Low Evidence).",
"entity_name": "KLF2",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:53:09.967513+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2AK4 as ready",
"entity_name": "EIF2AK4",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:53:09.957588+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak4 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK4",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:50:39.370173+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAV1 as ready",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:50:39.361877+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cav1 has been classified as Green List (High Evidence).",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:46:07.796950+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AQP1 as ready",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:46:07.788674+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aqp1 has been classified as Green List (High Evidence).",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:46:04.846307+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AQP1 were set to ",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:45:29.176236+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP13A3 as ready",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:45:29.165335+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp13a3 has been classified as Green List (High Evidence).",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:45:21.158250+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP13A3 as Green List (high evidence)",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:45:21.147668+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp13a3 has been classified as Green List (High Evidence).",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:45:04.576223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP13A3 was added\ngene: ATP13A3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ATP13A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP13A3 were set to 31798832; 30679663; 29650961\nPhenotypes for gene: ATP13A3 were set to Pulmonary arterial hypertension\nReview for gene: ATP13A3 was set to GREEN\nAdded comment: Three heterozygous frameshift variants, three stop gained, two splice region variants in ATP13A3, which are predicted to lead to loss of ATPase catalytic activity identified in idiopathic/familial PAH cases. Also one case with putative recessive inheritance reported. ATP13A3 mRNA expression is confirmed in primary PASMCs and endothelial cells where its loss hindered proliferation and enhanced apoptosis of endothelial cells, which is known as the initiation event of PAH. \nSources: Expert list",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:41:20.734930+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP13A3 as ready",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:41:20.721365+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp13a3 has been classified as Green List (High Evidence).",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:41:17.967491+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP13A3 were changed from to Pulmonary arterial hypertension",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:41:11.160926+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP13A3 were set to ",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:41:04.402991+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP13A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:29:58.101399+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-27T10:27:47.416404+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MBTPS2 as ready",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:27:47.406254+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbtps2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:27:01.515954+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MBTPS2 as Amber List (moderate evidence)",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:27:01.508028+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbtps2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:26:36.044538+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MBTPS2 was added\ngene: MBTPS2 was added to Osteogenesis Imperfecta. Sources: Expert list\nMode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MBTPS2 were set to 27380894\nPhenotypes for gene: MBTPS2 were set to Osteogenesis imperfecta, type XIX, MIM#\t301014\nReview for gene: MBTPS2 was set to AMBER\nAdded comment: Two unrelated families reported with multiple male affected individuals. \nSources: Expert list",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:20:30.812229+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM46A were changed from to Osteogenesis imperfecta, type XVIII, MIM#\t617952",
"entity_name": "FAM46A",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:20:13.723340+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM46A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM46A",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:19:28.867373+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM46A as ready",
"entity_name": "FAM46A",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:19:28.862486+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: HGNC approved name: TENT5A",
"entity_name": "FAM46A",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:19:28.831804+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam46a has been classified as Green List (High Evidence).",
"entity_name": "FAM46A",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:19:16.229239+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: FAM46A.",
"entity_name": "FAM46A",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:01:34.306250+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GORAB as ready",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:01:34.297966+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gorab has been classified as Green List (High Evidence).",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:01:15.220948+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GORAB as Green List (high evidence)",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:01:15.211450+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gorab has been classified as Green List (High Evidence).",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-07-27T10:00:49.769299+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GORAB was added\ngene: GORAB was added to Osteogenesis Imperfecta. Sources: Expert list\nMode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GORAB were set to Geroderma osteodysplasticum, MIM#\t231070\nReview for gene: GORAB was set to GREEN\nAdded comment: Osteopaenia and recurrent fractures are a feature of this condition. \nSources: Expert list",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:53:26.707274+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASR as ready",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:53:26.694734+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casr has been classified as Green List (High Evidence).",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:53:19.855182+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASR as Green List (high evidence)",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:53:19.845416+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casr has been classified as Green List (High Evidence).",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:52:53.565378+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASR was added\ngene: CASR was added to Osteogenesis Imperfecta. Sources: Expert list\nMode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: CASR were set to 22620673\nPhenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, MIM#\t239200; severe hypercalcemia, bone demineralization, multiple fractures\nReview for gene: CASR was set to GREEN\nAdded comment: Severe neonatal presentations can be with multiple fractures. \nSources: Expert list",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:49:58.987503+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B4GALT7 as ready",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:49:58.978884+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4galt7 has been classified as Green List (High Evidence).",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:49:56.081867+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B4GALT7 as Green List (high evidence)",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:49:56.071852+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4galt7 has been classified as Green List (High Evidence).",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:49:06.653232+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B4GALT7 was added\ngene: B4GALT7 was added to Osteogenesis Imperfecta. Sources: Expert list\nMode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B4GALT7 were set to 26940150\nPhenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM#\t130070\nReview for gene: B4GALT7 was set to GREEN\nAdded comment: Osteopaenia is a key feature of this connective tissue disorder. \nSources: Expert list",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:44:20.194999+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBAS as ready",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:44:20.183879+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbas has been classified as Green List (High Evidence).",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:44:17.731580+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NBAS were changed from short stature; bone fragility; developmental delay; immunodeficiency; autism to short stature; bone fragility; developmental delay; immunodeficiency; autism; Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM#\t614800",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:41:37.869972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCA2 as ready",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:41:37.860835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca2 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:41:30.587572+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCA2 were changed from to Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:41:11.371348+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCA2 were set to ",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:40:11.866424+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SMARCA2 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": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:39:49.407397+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCA2",
"entity_type": "gene"
}
]
}