{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1997","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&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"}]}