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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1968",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1966",
"results": [
{
"created": "2020-01-23T22:06:05.590970+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp3 has been classified as Green List (High Evidence).",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:05:51.531150+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: XLD",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:05:51.499048+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCCS was changed from Unknown to Other",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:05:21.436872+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23, MIM#616198",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:04:51.623376+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HCN2 as Green List (high evidence)",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:04:51.615951+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcn2 has been classified as Green List (High Evidence).",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:04:09.915538+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HCN2: Added comment: Evidence for both mono-allelic and bi-allelic variants causing disease; also evidence for both GoF and LoF as mechanism.; Changed mode of pathogenicity: Other; Changed publications: 22131395, 30986657, 29064616, 20437590, 12514127, 17931874; Changed phenotypes: Genetic epilepsy with febrile seizures plus, Other seizure disorders; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Set current diagnostic: yes",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:59:26.412410+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GTPBP3 were set to ",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:58:55.800868+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HCCS as Amber List (moderate evidence)",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:58:55.793563+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hccs has been classified as Amber List (Moderate Evidence).",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:58:15.554630+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HCCS: Rating: AMBER; Mode of pathogenicity: None; Publications: 17033964; Phenotypes: Linear skin defects with multiple congenital anomalies 1, 309801; Mode of inheritance: Other",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:57:14.457247+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GTPBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:54:17.880706+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GTPBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:53:36.988597+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23, MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:51:43.937104+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTPBP2 as ready",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:51:43.927149+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp2 has been classified as Green List (High Evidence).",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:49:50.782067+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GTPBP2 as Green List (high evidence)",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:49:50.771854+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp2 has been classified as Green List (High Evidence).",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:49:31.227665+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSS as ready",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:49:31.218925+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gss has been classified as Green List (High Evidence).",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:49:10.058975+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GSS were changed from to Glutathione synthetase deficiency, MIM# 266130",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:48:38.839371+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GTPBP2 was added\ngene: GTPBP2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTPBP2 were set to 26675814; 29449720\nPhenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, MIM#617988\nReview for gene: GTPBP2 was set to GREEN\ngene: GTPBP2 was marked as current diagnostic\nAdded comment: Four unrelated families with this neurodevelopmental syndrome, seizures are a feature. \nSources: Expert list",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:44:45.784821+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GSS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:44:10.060900+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutathione synthetase deficiency, MIM# 266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:36:48.105216+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USB1 were changed from Poikiloderma with neutropenia (OMIM #604173) to Poikiloderma with neutropenia (OMIM #604173)",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:36:27.228926+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USB1 as ready",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:36:27.220006+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usb1 has been classified as Green List (High Evidence).",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2020-01-23T21:36:05.276273+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USB1 were changed from to Poikiloderma with neutropenia (OMIM #604173)",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2020-01-23T12:12:32.158457+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USB1 were set to ",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2020-01-23T12:11:11.581982+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: USB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2020-01-23T12:07:39.616084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USB1 as ready",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2020-01-23T12:07:39.604415+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usb1 has been classified as Green List (High Evidence).",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2020-01-23T12:07:29.336801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USB1 were changed from to Poikiloderma with neutropenia (OMIM #604173)",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2020-01-23T12:07:11.580117+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USB1 were set to ",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2020-01-23T12:06:48.149238+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: USB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2020-01-23T12:04:26.710368+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LCAT as ready",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2020-01-23T12:04:26.698334+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lcat has been classified as Green List (High Evidence).",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:40:43.526633+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.935",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25044170, 27612988; Phenotypes: Poikiloderma with neutropenia (OMIM #604173); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:39:15.591694+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LCAT as Green List (high evidence)",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:39:15.578548+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lcat has been classified as Green List (High Evidence).",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:36:49.841755+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LCAT was added\ngene: LCAT was added to Proteinuria. Sources: Expert list\nMode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LCAT were set to Norum disease, MIM#\t245900\nReview for gene: LCAT was set to GREEN\ngene: LCAT was marked as current diagnostic\nAdded comment: Disorder of lipoprotein metabolism presents with a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. \nSources: Expert list",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:34:19.235658+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TBX4 as Green List (high evidence)",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:34:19.224227+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tbx4 has been classified as Green List (High Evidence).",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:34:09.225161+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TBX4 was added\ngene: TBX4 was added to Pulmonary Arterial Hypertension. Sources: Expert list\nMode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TBX4 were set to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891\nReview for gene: TBX4 was set to GREEN\nAdded comment: Pulmonary arterial hypertension can be a feature of the condition caused by this gene. \nSources: Expert list",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:33:34.308986+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLA as ready",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:33:34.293804+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gla has been classified as Green List (High Evidence).",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:31:28.296080+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SOX17 was added\ngene: SOX17 was added to Pulmonary Arterial Hypertension. Sources: Expert list\nMode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SOX17 were set to Vesicoureteral reflux 3 MIM#613674",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:30:26.682775+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLA as Green List (high evidence)",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:30:26.671162+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gla has been classified as Green List (High Evidence).",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:29:23.329575+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SMAD9 as Green List (high evidence)",
"entity_name": "SMAD9",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:29:23.318553+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: smad9 has been classified as Green List (High Evidence).",
"entity_name": "SMAD9",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:29:20.678276+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLA was added\ngene: GLA was added to Proteinuria. Sources: Expert list\nMode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GLA were set to 18033242\nPhenotypes for gene: GLA were set to Fairy disease, MIM#\t301500\nReview for gene: GLA was set to GREEN\nAdded comment: Glomerular disease and proteinuria well documented manifestations of Fabry. \nSources: Expert list",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:29:14.579275+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SMAD9 was added\ngene: SMAD9 was added to Pulmonary Arterial Hypertension. Sources: Expert list\nMode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SMAD9 were set to Pulmonary hypertension, primary, 2 MIM#615342\nReview for gene: SMAD9 was set to GREEN\nAdded comment: Pulmonary arterial hypertension is the main feature of the condition caused by this gene. \nSources: Expert list",
"entity_name": "SMAD9",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:27:32.495941+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KCNK3 as Green List (high evidence)",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:27:32.484403+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kcnk3 has been classified as Green List (High Evidence).",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:27:19.650223+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNK3 was added\ngene: KCNK3 was added to Pulmonary Arterial Hypertension. Sources: Expert list\nMode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNK3 were set to Pulmonary hypertension, primary, 4 MIM#615344\nReview for gene: KCNK3 was set to GREEN\nAdded comment: Pulmonary arterial hypertension is the main feature of the condition caused by this gene. \nSources: Expert list",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:25:47.740509+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GDF2 was added\ngene: GDF2 was added to Pulmonary Arterial Hypertension. Sources: Expert list\nMode of inheritance for gene: GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GDF2 were set to Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:22:55.185878+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ENG was added\ngene: ENG was added to Pulmonary Arterial Hypertension. Sources: Expert list\nMode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:18:57.145631+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EIF2AK4 as Green List (high evidence)",
"entity_name": "EIF2AK4",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:18:57.130725+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif2ak4 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK4",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:18:48.820523+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EIF2AK4 was added\ngene: EIF2AK4 was added to Pulmonary Arterial Hypertension. Sources: Expert list\nMode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2 MIM#234810\nReview for gene: EIF2AK4 was set to GREEN\nAdded comment: Pulmonary hypertension is a feature of the condition \nSources: Expert list",
"entity_name": "EIF2AK4",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:17:01.259586+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CAV1 as Green List (high evidence)",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:17:01.253426+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Heterozygous variants cause PAH",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:17:01.218408+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cav1 has been classified as Green List (High Evidence).",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:16:34.116562+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CAV1 was added\ngene: CAV1 was added to Pulmonary Arterial Hypertension. Sources: Expert list\nMode of inheritance for gene: CAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CAV1 were set to Pulmonary hypertension, primary, 3 MIM#615343\nReview for gene: CAV1 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:15:35.571905+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BMPR2 as Green List (high evidence)",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:15:35.560170+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bmpr2 has been classified as Green List (High Evidence).",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:15:25.318772+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BMPR2 was added\ngene: BMPR2 was added to Pulmonary Arterial Hypertension. Sources: Expert list\nMode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600; Pulmonary venoocclusive disease 1 MIM#265450\nReview for gene: BMPR2 was set to GREEN\nAdded comment: PAH is the major feature. \nSources: Expert list",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:10:09.137736+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BMPR1B was added\ngene: BMPR1B was added to Pulmonary Arterial Hypertension. Sources: Expert list\nMode of inheritance for gene: BMPR1B was set to Unknown\nPhenotypes for gene: BMPR1B were set to Pulmonary arterial hypertension",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:06:54.612676+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP13A3 was added\ngene: ATP13A3 was added to Pulmonary Arterial Hypertension. Sources: Expert list\nMode of inheritance for gene: ATP13A3 was set to Unknown",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:04:24.203856+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AQP1 was added\ngene: AQP1 was added to Pulmonary Arterial Hypertension. Sources: Expert list\nMode of inheritance for gene: AQP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: AQP1 were set to Pulmonary arterial hypertension",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:02:23.268627+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACVRL1 as Green List (high evidence)",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:02:23.256761+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acvrl1 has been classified as Green List (High Evidence).",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2020-01-23T11:02:11.017749+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACVRL1 was added\ngene: ACVRL1 was added to Pulmonary Arterial Hypertension. Sources: Expert list\nMode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376\nReview for gene: ACVRL1 was set to GREEN\nAdded comment: Pulmonary arterial hypertension can be a feature of the condition. \nSources: Expert list",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2020-01-23T10:57:57.688055+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added Panel Pulmonary Arterial Hypertension\nSet panel types to: Royal Melbourne Hospital; Rare Disease; Victorian Clinical Genetics Services",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-23T10:40:47.927748+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP164 as ready",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2020-01-23T10:40:47.915614+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep164 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2020-01-23T10:38:39.659935+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP164 as Amber List (moderate evidence)",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2020-01-23T10:38:39.647789+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep164 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2020-01-23T10:37:34.145885+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP164 was added\ngene: CEP164 was added to Bardet Biedl syndrome. Sources: Expert list\nMode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP164 were set to Nephronophthisis 15, MIM#\t614845\nReview for gene: CEP164 was set to AMBER\ngene: CEP164 was marked as current diagnostic\nAdded comment: Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Rated Amber given the overall low number of affected individuals, emerging phenotype. \nSources: Expert list",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2020-01-23T08:13:51.036349+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNB5 as ready",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2020-01-23T08:13:51.024163+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnb5 has been classified as Green List (High Evidence).",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2020-01-23T08:13:37.487352+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNB5 were changed from to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2020-01-23T08:13:05.161373+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNB5 were set to ",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2020-01-23T08:12:14.976936+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNB5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2020-01-23T08:09:58.940844+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNB5 as ready",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2020-01-23T08:09:58.929326+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnb5 has been classified as Green List (High Evidence).",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2020-01-23T08:09:35.434235+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNB5 as Green List (high evidence)",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2020-01-23T08:09:35.421588+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnb5 has been classified as Green List (High Evidence).",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2020-01-23T08:08:35.578578+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNB5 was added\ngene: GNB5 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNB5 were set to 27523599; 27677260; 28697420; 29368331\nPhenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)\nReview for gene: GNB5 was set to GREEN\ngene: GNB5 was marked as current diagnostic\nAdded comment: Multiple affected individuals reported. \nSources: Expert list",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2020-01-23T08:07:05.087371+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNB5 as ready",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2020-01-23T08:07:05.074968+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnb5 has been classified as Green List (High Evidence).",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2020-01-23T08:06:19.326819+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNB5 as Green List (high evidence)",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2020-01-23T08:06:19.314944+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnb5 has been classified as Green List (High Evidence).",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2020-01-23T08:05:25.674857+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNB5 was added\ngene: GNB5 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNB5 were set to 27523599; 27677260; 28697420; 29368331\nPhenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)\nReview for gene: GNB5 was set to GREEN\ngene: GNB5 was marked as current diagnostic\nAdded comment: Epilepsy is a reported feature in a number of individuals. \nSources: Expert list",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2020-01-22T22:05:23.441668+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLYCTK as ready",
"entity_name": "GLYCTK",
"entity_type": "gene"
},
{
"created": "2020-01-22T22:05:23.429207+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glyctk has been classified as Green List (High Evidence).",
"entity_name": "GLYCTK",
"entity_type": "gene"
},
{
"created": "2020-01-22T22:03:37.491343+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLYCTK were changed from to D-glyceric aciduria, MIM# 220120",
"entity_name": "GLYCTK",
"entity_type": "gene"
},
{
"created": "2020-01-22T22:03:13.342382+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLYCTK were set to ",
"entity_name": "GLYCTK",
"entity_type": "gene"
},
{
"created": "2020-01-22T22:02:37.180913+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLYCTK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLYCTK",
"entity_type": "gene"
}
]
}