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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1997",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1995",
"results": [
{
"created": "2020-01-09T13:19:58.172664+11:00",
"panel_name": "Hyperlipidaemia_RMH",
"panel_id": 332,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCG8 was added\ngene: ABCG8 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCG8 were set to Sitosterolemia",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2020-01-09T13:19:58.121778+11:00",
"panel_name": "Hyperlipidaemia_RMH",
"panel_id": 332,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCG5 was added\ngene: ABCG5 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCG5 were set to Sitosterolemia",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2020-01-09T13:19:58.068496+11:00",
"panel_name": "Hyperlipidaemia_RMH",
"panel_id": 332,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCA1 was added\ngene: ABCA1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ABCA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ABCA1 were set to Tangier disease, ABCA1 deficiency, HDL deficiency, Familial hypoalphalipoproteinemia",
"entity_name": "ABCA1",
"entity_type": "gene"
},
{
"created": "2020-01-09T13:19:58.036994+11:00",
"panel_name": "Hyperlipidaemia_RMH",
"panel_id": 332,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Hyperlipidaemia_RMH",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-09T12:02:50.645206+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLC1 as ready",
"entity_name": "DLC1",
"entity_type": "gene"
},
{
"created": "2020-01-09T12:02:50.638118+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlc1 has been classified as Green List (High Evidence).",
"entity_name": "DLC1",
"entity_type": "gene"
},
{
"created": "2020-01-09T12:02:47.081307+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLC1 as Green List (high evidence)",
"entity_name": "DLC1",
"entity_type": "gene"
},
{
"created": "2020-01-09T12:02:47.073372+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlc1 has been classified as Green List (High Evidence).",
"entity_name": "DLC1",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:59:02.880501+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLC1 was added\ngene: DLC1 was added to Proteinuria_VCGS_KidGen. Sources: Expert list\nMode of inheritance for gene: DLC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DLC1 were set to 29773874\nPhenotypes for gene: DLC1 were set to Neprhotic syndrome\nReview for gene: DLC1 was set to GREEN\nAdded comment: Four unrelated families reported. \nSources: Expert list",
"entity_name": "DLC1",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:50:33.075213+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HTRA2 as ready",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:50:33.063190+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: htra2 has been classified as Green List (High Evidence).",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:50:28.798777+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HTRA2 as Green List (high evidence)",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:50:28.792119+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: htra2 has been classified as Green List (High Evidence).",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:49:56.350937+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HTRA2 was added\ngene: HTRA2 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, MIM#\t617248\nReview for gene: HTRA2 was set to GREEN\nAdded comment: Neutropaenia is a feature of this metabolic condition. \nSources: Expert list",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:47:52.014843+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HELLS as ready",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:47:52.006069+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hells has been classified as Green List (High Evidence).",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:47:33.978380+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HELLS as Green List (high evidence)",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:47:33.970431+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hells has been classified as Green List (High Evidence).",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:47:05.709631+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HELLS was added\ngene: HELLS was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: HELLS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HELLS were set to 26216346\nPhenotypes for gene: HELLS were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM#616911\nReview for gene: HELLS was set to GREEN\nAdded comment: Five individuals from four unrelated families. \nSources: Expert list",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:45:19.137894+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GINS1 as ready",
"entity_name": "GINS1",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:45:19.130768+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gins1 has been classified as Green List (High Evidence).",
"entity_name": "GINS1",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:45:15.238199+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GINS1 as Green List (high evidence)",
"entity_name": "GINS1",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:45:15.226250+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gins1 has been classified as Green List (High Evidence).",
"entity_name": "GINS1",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:44:45.614375+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GINS1 was added\ngene: GINS1 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: GINS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GINS1 were set to 28414293\nPhenotypes for gene: GINS1 were set to Immunodeficiency 55, MIM#617827\nReview for gene: GINS1 was set to GREEN\nAdded comment: IUGR, natural killer (NK) cell deficiency, and chronic neutropenia;mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. At least 5 patients from four unrelated families reported. \nSources: Expert list",
"entity_name": "GINS1",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:39:57.598111+11:00",
"panel_name": "Phagocyte defects_MelbourneGenomics_VCGS",
"panel_id": 233,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: G6PD as ready",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:39:57.591554+11:00",
"panel_name": "Phagocyte defects_MelbourneGenomics_VCGS",
"panel_id": 233,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pd has been classified as Green List (High Evidence).",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:39:53.358648+11:00",
"panel_name": "Phagocyte defects_MelbourneGenomics_VCGS",
"panel_id": 233,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: G6PD as Green List (high evidence)",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:39:53.351087+11:00",
"panel_name": "Phagocyte defects_MelbourneGenomics_VCGS",
"panel_id": 233,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pd has been classified as Green List (High Evidence).",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:39:24.594554+11:00",
"panel_name": "Phagocyte defects_MelbourneGenomics_VCGS",
"panel_id": 233,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: G6PD was added\ngene: G6PD was added to Phagocyte defects_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: G6PD were set to Hemolytic anemia, G6PD deficient (favism), MIM#\t300908\nReview for gene: G6PD was set to GREEN\nAdded comment: Neutrophil leukocytosis \nSources: Expert list",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:47.935705+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TPP1 was added\ngene: TPP1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2 204500",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:47.880511+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TBC1D24 was added\ngene: TBC1D24 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBC1D24 were set to Epileptic encephalopathy, early infantile, 16 615338; DOORS syndrome 220500; Myoclonic epilepsy, infantile, familial 605021",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:47.825079+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SERPINI1 was added\ngene: SERPINI1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SERPINI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SERPINI1 were set to Encephalopathy, familial, with neuroserpin inclusion bodies",
"entity_name": "SERPINI1",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:47.766120+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SCARB2 was added\ngene: SCARB2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure 254900",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:47.709868+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRICKLE1 was added\ngene: PRICKLE1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PRICKLE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B 612437",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:47.652981+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PPT1 was added\ngene: PPT1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1 256730",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:47.597115+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLG was added\ngene: POLG was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:47.541085+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NHLRC1 was added\ngene: NHLRC1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora) 254780",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:47.485070+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NEU1 was added\ngene: NEU1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEU1 were set to Sialidosis, type II",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:47.430298+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MFSD8 was added\ngene: MFSD8 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7 610951",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:47.374283+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCTD7 was added\ngene: KCTD7 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:47.317978+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNC1 was added\ngene: KCNC1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNC1 were set to Epilepsy, progressive myoclonic 7 616187",
"entity_name": "KCNC1",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:47.260453+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GRN was added\ngene: GRN was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GRN were set to Ceroid lipofuscinosis, neuronal, 11, MIM#614706",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:47.201653+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GOSR2 was added\ngene: GOSR2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:47.144490+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GABRB2 was added\ngene: GABRB2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GABRB2 were set to Epileptic encephalopathy, infantile or early childhood, 2, 617829",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:47.087464+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FOLR1 was added\ngene: FOLR1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068; seizures",
"entity_name": "FOLR1",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:47.030577+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FARS2 was added\ngene: FARS2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency 14, 614946",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:46.976970+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EPM2A was added\ngene: EPM2A was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) 254780",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:46.912769+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DNAJC5 was added\ngene: DNAJC5 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DNAJC5 were set to autosomal dominant Kufs disease; generalized tonic clonic seizures; Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:46.856028+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CTSF was added\ngene: CTSF was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:46.796738+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CTSD was added\ngene: CTSD was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10, 610127",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:46.740672+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CSTB was added\ngene: CSTB was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CSTB were set to Unverricht-Lundborg syndrome; Epilepsy, progressive myoclonic type 1",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:46.687082+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLN8 was added\ngene: CLN8 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; Ceroid lipofuscinosis, neuronal, 8 600143",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:46.620395+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLN6 was added\ngene: CLN6 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Ceroid lipofuscinosis, neuronal, 6, 601780",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:46.566200+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLN5 was added\ngene: CLN5 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5, MIM#256731",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:46.514942+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLN3 was added\ngene: CLN3 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3 204200",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:46.463213+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CERS1 was added\ngene: CERS1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CERS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CERS1 were set to ?Epilepsy, progressive myoclonic, 8, 616230",
"entity_name": "CERS1",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:46.411391+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BRAT1 was added\ngene: BRAT1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRAT1 were set to Rigidity and multifocal seizure syndrome, lethal neonatal 614498",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:46.360270+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP13A2 was added\ngene: ATP13A2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP13A2 were set to Juvenile parkinsonism-neuronal ceroid lipofuscinosis",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:46.309318+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ASAH1 was added\ngene: ASAH1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy, 159950",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:46.256541+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AFG3L2 was added\ngene: AFG3L2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: AFG3L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AFG3L2 were set to Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:33:46.225346+11:00",
"panel_name": "Progressive Myoclonic Epilepsy_RMH",
"panel_id": 331,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Progressive Myoclonic Epilepsy_RMH",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-09T11:26:47.800954+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXTL3 as ready",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:26:47.793993+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: extl3 has been classified as Green List (High Evidence).",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:26:38.246616+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXTL3 were changed from to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:26:26.921274+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXTL3 were set to ",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:26:15.525789+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EXTL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:25:58.052024+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132690, 28148688; Phenotypes: Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:24:23.786628+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXTL3 as ready",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:24:23.779321+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: extl3 has been classified as Green List (High Evidence).",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:19:47.825294+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXTL3 as Green List (high evidence)",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:19:47.818081+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: extl3 has been classified as Green List (High Evidence).",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:19:18.258860+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXTL3 was added\ngene: EXTL3 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXTL3 were set to 28132690; 28148688\nPhenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM#\t617425\nReview for gene: EXTL3 was set to GREEN\nAdded comment: 12 individuals from 7 families reported. \nSources: Expert list",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:16:14.937943+11:00",
"panel_name": "Bone Marrow Failure_VCGS",
"panel_id": 56,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC6L2 as ready",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:16:14.931251+11:00",
"panel_name": "Bone Marrow Failure_VCGS",
"panel_id": 56,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc6l2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:15:03.579832+11:00",
"panel_name": "Bone Marrow Failure_VCGS",
"panel_id": 56,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERCC6L2 as Green List (high evidence)",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:15:03.571339+11:00",
"panel_name": "Bone Marrow Failure_VCGS",
"panel_id": 56,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc6l2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:14:30.423155+11:00",
"panel_name": "Bone Marrow Failure_VCGS",
"panel_id": 56,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC6L2 was added\ngene: ERCC6L2 was added to Bone Marrow Failure_VCGS. Sources: Expert list\nMode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC6L2 were set to 24507776; 27185855\nPhenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM#\t615715\nReview for gene: ERCC6L2 was set to GREEN\nAdded comment: Trilineage bone marrow failure, learning disabilities, and microcephaly. Three consanguineous families reported, two with the same truncating variant. \nSources: Expert list",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:12:30.809697+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC6L2 as ready",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:12:30.797671+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc6l2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:12:26.863912+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERCC6L2 as Green List (high evidence)",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:12:26.857212+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc6l2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:11:59.085629+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC6L2 was added\ngene: ERCC6L2 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC6L2 were set to 24507776; 27185855\nPhenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM#\t615715\nAdded comment: Trilineage bone marrow failure, learning disabilities, and microcephaly. Three consanguineous families reported, two with the same truncating variant. \nSources: Expert list",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:08:18.741556+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNASE2 as ready",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:08:18.734782+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnase2 has been classified as Green List (High Evidence).",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:08:08.903952+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNASE2 as Green List (high evidence)",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:08:08.897402+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnase2 has been classified as Green List (High Evidence).",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:07:51.569863+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNASE2 was added\ngene: DNASE2 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNASE2 were set to 29259162; 31775019\nPhenotypes for gene: DNASE2 were set to Auto-inflammatory disorder; splenomegaly; glomerulonephritis; liver fibrosis; arthritis; HLH\nReview for gene: DNASE2 was set to GREEN\nAdded comment: Inflammatory disorder characterized by splenomegaly, glomerulonephritis, liver fibrosis, circulating anti-DNA autoantibodies, and progressive arthritis. Three families and functional data. \nSources: Expert list",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:06:33.602960+11:00",
"panel_name": "Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS",
"panel_id": 238,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNASE2 as ready",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:06:33.595950+11:00",
"panel_name": "Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS",
"panel_id": 238,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnase2 has been classified as Green List (High Evidence).",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:06:13.355333+11:00",
"panel_name": "Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS",
"panel_id": 238,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNASE2 as Green List (high evidence)",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:06:12.732361+11:00",
"panel_name": "Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS",
"panel_id": 238,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnase2 has been classified as Green List (High Evidence).",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2020-01-09T11:03:59.123893+11:00",
"panel_name": "Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS",
"panel_id": 238,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNASE2 was added\ngene: DNASE2 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNASE2 were set to 29259162; 31775019\nPhenotypes for gene: DNASE2 were set to Auto-inflammatory disorder; splenomegaly; glomerulonephritis; liver fibrosis; arthritis; HLH\nReview for gene: DNASE2 was set to GREEN\nAdded comment: Inflammatory disorder characterized by splenomegaly, glomerulonephritis, liver fibrosis, circulating anti-DNA autoantibodies, and progressive arthritis. Three families and functional data. \nSources: Expert list",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:32:55.978485+11:00",
"panel_name": "Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS",
"panel_id": 238,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNASE1L3 as ready",
"entity_name": "DNASE1L3",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:32:55.971688+11:00",
"panel_name": "Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS",
"panel_id": 238,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnase1l3 has been classified as Green List (High Evidence).",
"entity_name": "DNASE1L3",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:32:51.620001+11:00",
"panel_name": "Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS",
"panel_id": 238,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNASE1L3 as Green List (high evidence)",
"entity_name": "DNASE1L3",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:32:51.612827+11:00",
"panel_name": "Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS",
"panel_id": 238,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnase1l3 has been classified as Green List (High Evidence).",
"entity_name": "DNASE1L3",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:32:01.495993+11:00",
"panel_name": "Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS",
"panel_id": 238,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNASE1L3 was added\ngene: DNASE1L3 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: DNASE1L3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNASE1L3 were set to 22019780; 30008451\nPhenotypes for gene: DNASE1L3 were set to Systemic lupus erythematosus 16, MIM#\t614420\nReview for gene: DNASE1L3 was set to GREEN\nAdded comment: Six consanguineous families with paediatric-onset SLE reported initially, same homozygous mutation (founder); additional family identified in literature with different homozygous frameshift. \nSources: Expert list",
"entity_name": "DNASE1L3",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:26:29.688263+11:00",
"panel_name": "Bone Marrow Failure_VCGS",
"panel_id": 56,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJC21 as ready",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:26:29.681455+11:00",
"panel_name": "Bone Marrow Failure_VCGS",
"panel_id": 56,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajc21 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:25:18.279229+11:00",
"panel_name": "Bone Marrow Failure_VCGS",
"panel_id": 56,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAJC21 as Green List (high evidence)",
"entity_name": "DNAJC21",
"entity_type": "gene"
}
]
}