{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=648","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=646","results":[{"created":"2023-01-04T13:51:32.929120+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Macrocephaly, HP:0000256; Megalencephaly, HP:0001355\nList of related panels changed from  to Macrocephaly; HP:0000256; Megalencephaly; HP:0001355","entity_name":null,"entity_type":null},{"created":"2023-01-03T19:01:17.298894+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLS1 as ready","entity_name":"PLS1","entity_type":"gene"},{"created":"2023-01-03T19:01:17.276321+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pls1 has been classified as Green List (High Evidence).","entity_name":"PLS1","entity_type":"gene"},{"created":"2023-01-03T19:01:12.618946+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLS1 as Green List (high evidence)","entity_name":"PLS1","entity_type":"gene"},{"created":"2023-01-03T19:01:12.600393+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pls1 has been classified as Green List (High Evidence).","entity_name":"PLS1","entity_type":"gene"},{"created":"2023-01-03T18:44:21.614955+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Lysosomal storage disorder, MONDO:0002561; Visceromegaly, HP:0003271\nList of related panels changed from  to Lysosomal storage disorder; MONDO:0002561; Visceromegaly; HP:0003271","entity_name":null,"entity_type":null},{"created":"2023-01-03T18:42:04.502343+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Lymphedema, HP:0001004\nList of related panels changed from  to Lymphedema; HP:0001004","entity_name":null,"entity_type":null},{"created":"2023-01-03T18:37:13.367102+11:00","panel_name":"Long QT Syndrome","panel_id":131,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Prolonged QT interval, HP:0001657\nList of related panels changed from  to Prolonged QT interval; HP:0001657","entity_name":null,"entity_type":null},{"created":"2023-01-03T18:36:11.187759+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Liver failure, HP:0001399\nList of related panels changed from  to Liver failure; HP:0001399","entity_name":null,"entity_type":null},{"created":"2023-01-03T18:25:46.039920+11:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Lipodystrophy, HP:0009125\nList of related panels changed from  to Lipodystrophy; HP:0009125","entity_name":null,"entity_type":null},{"created":"2023-01-03T18:24:35.199374+11:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Limb-girdle muscular dystrophy, MONDO:0016971; Proximal muscle weakness, HP:0003701\nList of related panels changed from  to Limb-girdle muscular dystrophy; MONDO:0016971;Proximal muscle weakness; HP:0003701","entity_name":null,"entity_type":null},{"created":"2023-01-03T18:22:36.746663+11:00","panel_name":"Limb and Digital Malformations SuperPanel","panel_id":3730,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Limb abnormality, HP:0040064\nList of related panels changed from  to Limb abnormality; HP:0040064","entity_name":null,"entity_type":null},{"created":"2023-01-03T18:13:21.933601+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Leukodystrophy; HP:0002415; Abnormal cerebral white matter morphology; HP:0002500; Abnormal CNS myelination; HP:0011400","entity_name":null,"entity_type":null},{"created":"2023-01-03T18:11:01.357328+11:00","panel_name":"Kidneyome_SuperPanel","panel_id":275,"panel_version":"8.3","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormality of the kidney, HP:0000077\nList of related panels changed from  to Abnormality of the kidney; HP:0000077","entity_name":null,"entity_type":null},{"created":"2023-01-03T18:08:52.319481+11:00","panel_name":"Kabuki syndrome","panel_id":134,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Kabuki syndrome; MONDO:0016512\nPanel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2023-01-03T18:01:38.891288+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Molar tooth sign on MRI, HP:0002419; Joubert syndrome, MONDO:0018772\nList of related panels changed from  to Molar tooth sign on MRI; HP:0002419; Joubert syndrome; MONDO:0018772","entity_name":null,"entity_type":null},{"created":"2023-01-03T17:59:39.066539+11:00","panel_name":"Iron metabolism disorders","panel_id":3469,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormality of iron homeostasis, HP:0011031\nList of related panels changed from  to Abnormality of iron homeostasis; HP:0011031","entity_name":null,"entity_type":null},{"created":"2023-01-03T17:55:29.905119+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2023-01-03T17:54:53.921455+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Gastrointestinal inflammation, HP:0004386\nList of related panels changed from  to Gastrointestinal inflammation; HP:0004386","entity_name":null,"entity_type":null},{"created":"2023-01-03T17:52:05.138529+11:00","panel_name":"Immunological disorders_SuperPanel","panel_id":239,"panel_version":"9.58","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormality of the immune system, HP:0002715\nList of related panels changed from  to Abnormality of the immune system; HP:0002715","entity_name":null,"entity_type":null},{"created":"2023-01-03T17:50:45.391810+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Ichthyosis, HP:0008064\nList of related panels changed from  to Ichthyosis; HP:0008064","entity_name":null,"entity_type":null},{"created":"2023-01-03T17:49:19.888984+11:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Hypertrophic cardiomyopathy, HP:0001639\nList of related panels changed from  to Hypertrophic cardiomyopathy; HP:0001639","entity_name":null,"entity_type":null},{"created":"2023-01-03T17:48:16.236389+11:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Hypertrichosis, HP:0000998\nList of related panels changed from  to Hypertrichosis; HP:0000998\nPanel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2023-01-03T17:47:10.777984+11:00","panel_name":"Hyperthyroidism","panel_id":3372,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Hyperthyroidism HP:0000836","entity_name":null,"entity_type":null},{"created":"2023-01-03T17:46:33.835745+11:00","panel_name":"Hypertension and Aldosterone disorders","panel_id":190,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Hypertension, HP:0000822; Abnormal circulating aldosterone, HP:0040085\nList of related panels changed from  to Hypertension; HP:0000822; Abnormal circulating aldosterone; HP:0040085","entity_name":null,"entity_type":null},{"created":"2023-01-03T17:44:37.965748+11:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Hyperinsulinaemia, HP:0000842;Hypoglycemia, HP:0001943\nList of related panels changed from  to Hyperinsulinaemia; HP:0000842;Hypoglycemia; HP:0001943","entity_name":null,"entity_type":null},{"created":"2023-01-03T17:41:18.942977+11:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Hypercalcemia, HP:0003072\nList of related panels changed from  to Hypercalcemia; HP:0003072","entity_name":null,"entity_type":null},{"created":"2023-01-03T17:40:01.188346+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Hyperammonaemia, HP:0001987\nList of related panels changed from  to Hyperammonaemia; HP:0001987","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:45:18.423021+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.294","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Hydrops fetalis, HP:0001789\nList of related panels changed from  to Hydrops fetalis; HP:0001789","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:44:12.690601+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Hydrocephalus, HP:0000238; Ventriculomegaly, HP:0002119\nList of related panels changed from  to Hydrocephalus; HP:0000238; Ventriculomegaly; HP:0002119","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:42:40.496618+11:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Holoprosencephaly, HP:0001360; Septo-optic dysplasia, HP:0100842\nList of related panels changed from  to Holoprosencephaly; HP:0001360; Septo-optic dysplasia; HP:0100842","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:41:04.739521+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:40:30.006554+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Aganglionic megacolon, HP:0002251\nList of related panels changed from  to Aganglionic megacolon; HP:0002251","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:32:25.328497+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Heterotaxy, HP:0030853; Dextrocardia, HP:0001651; Asplenia, HP:0001746; Abnormal spatial orientation of cardiac segments, HP:0011534; Polysplenia, HP:0001748;Midline liver, HP:0034188\nList of related panels changed from  to Heterotaxy; HP:0030853; Dextrocardia; HP:0001651; Asplenia; HP:0001746; Abnormal spatial orientation of cardiac segments; HP:0011534; Polysplenia; HP:0001748;Midline liver; HP:0034188","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:28:43.916512+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Spasticity, HP:0001257\nList of related panels changed from  to Spasticity; HP:0001257","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:27:04.529096+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Peripheral neuropathy, HP:0009830\nList of related panels changed from  to Peripheral neuropathy; HP:0009830","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:24:41.345173+11:00","panel_name":"Hereditary Haemorrhagic Telangiectasia","panel_id":260,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Telangiectasia, HP:0001009\nList of related panels changed from  to Telangiectasia; HP:0001009","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:23:59.212683+11:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Angioedema, HP:0100665\nList of related panels changed from  to Angioedema; HP:0100665","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:22:51.727760+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormal hand morphology, HP:0005922; Abnormal foot morphology, HP:0001760\nList of related panels changed from  to Abnormal hand morphology; HP:0005922; Abnormal foot morphology; HP:0001760","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:20:13.462502+11:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormal hair morphology, HP:0001595\nList of related panels changed from  to Abnormal hair morphology; HP:0001595","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:19:25.040103+11:00","panel_name":"Haematuria_Alport","panel_id":39,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Hematuria, HP:0000790; Proteinuria, HP:0000093\nList of related panels changed from  to Hematuria; HP:0000790; Proteinuria; HP:0000093","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:17:56.208951+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Failure to thrive, HP:0001508; Growth delay, HP:0001510\nList of related panels changed from  to Failure to thrive; HP:0001508; Growth delay; HP:0001510","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:16:03.424872+11:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormal hepatic glycogen storage, HP:0500030; Abnormal muscle glycogen content, HP:0012269; Visceromegaly, HP:0003271;Hypoglycemia, HP:0001943\nList of related panels changed from  to Abnormal hepatic glycogen storage; HP:0500030; Abnormal muscle glycogen content; HP:0012269; Visceromegaly; HP:0003271;Hypoglycemia; HP:0001943","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:12:50.149495+11:00","panel_name":"Glaucoma congenital","panel_id":105,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Glaucoma, HP:0000501\nList of related panels changed from  to Glaucoma; HP:0000501","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:11:51.705806+11:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Gastrointestinal dysmotility, HP:0002579\nList of related panels changed from  to Gastrointestinal dysmotility; HP:0002579","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:10:54.829813+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Midline defect of the nose, HP:0004122; Midline facial cleft, HP:0100629; Cranium bifidum occultum, HP:0004423\nList of related panels changed from  to Midline defect of the nose; HP:0004122; Midline facial cleft; HP:0100629; Cranium bifidum occultum; HP:0004423","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:07:59.829356+11:00","panel_name":"Foveal Hypoplasia","panel_id":3150,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormal foveal morphology, HP:0000493\nList of related panels changed from  to Abnormal foveal morphology; HP:0000493","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:04:14.992521+11:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormal circulating fatty acid concentration, HP:0004359; Rhabdomyolysis, HP:0003201; Hypoglycaemia, HP:0001943\nList of related panels changed from  to Abnormal circulating fatty acid concentration; HP:0004359; Rhabdomyolysis; HP:0003201; Hypoglycaemia; HP:0001943","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:01:23.781406+11:00","panel_name":"Familial hypoparathyroidism","panel_id":3894,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Hypoparathyroidism, HP:0000829\nList of related panels changed from  to Hypoparathyroidism; HP:0000829","entity_name":null,"entity_type":null},{"created":"2023-01-03T16:00:31.058203+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormal circulating cholesterol concentration, HP:0003107\nList of related panels changed from  to Abnormal circulating cholesterol concentration; HP:0003107","entity_name":null,"entity_type":null},{"created":"2023-01-03T15:58:57.322413+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1822","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Seizure; HP:0001250","entity_name":null,"entity_type":null},{"created":"2023-01-03T13:26:23.317176+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormal anterior eye segment morphology, HP:0004328\nList of related panels changed from  to Abnormal anterior eye segment morphology; HP:0004328","entity_name":null,"entity_type":null},{"created":"2023-01-03T13:22:51.421333+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormal blistering of the skin, HP:0008066\nList of related panels changed from  to Abnormal blistering of the skin; HP:0008066","entity_name":null,"entity_type":null},{"created":"2023-01-03T13:15:56.779609+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Ectodermal dysplasia, HP:0000968\nList of related panels changed from  to Ectodermal dysplasia; HP:0000968","entity_name":null,"entity_type":null},{"created":"2023-01-03T13:13:59.744419+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormality of extrapyramidal motor function, HP:0002071\nList of related panels changed from  to Abnormality of extrapyramidal motor function; HP:0002071","entity_name":null,"entity_type":null},{"created":"2023-01-03T13:11:56.213338+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Cognitive impairment, HP:0100543\nList of related panels changed from  to Cognitive impairment; HP:0100543","entity_name":null,"entity_type":null},{"created":"2023-01-03T13:09:30.497553+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Dystonia, HP:0001332\nList of related panels changed from  to Dystonia; HP:0001332","entity_name":null,"entity_type":null},{"created":"2023-01-03T13:08:38.254483+11:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormal circulating lipid concentration, HP:0003119\nList of related panels changed from  to Abnormal circulating lipid concentration; HP:0003119","entity_name":null,"entity_type":null},{"created":"2023-01-03T13:07:40.918106+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Immune dysregulation, HP:0002958\nList of related panels changed from  to Immune dysregulation; HP:0002958","entity_name":null,"entity_type":null},{"created":"2023-01-03T13:06:23.993795+11:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormality of amino acid metabolism, HP:0004337\nList of related panels changed from  to Abnormality of amino acid metabolism; HP:0004337\nPanel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2023-01-03T13:04:33.595402+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Dilated cardiomyopathy, HP:0001644\nList of related panels changed from  to Dilated cardiomyopathy; HP:0001644","entity_name":null,"entity_type":null},{"created":"2023-01-03T13:03:03.416078+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.269","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormality of the genital system, HP:0000078\nList of related panels changed from  to Abnormality of the genital system; HP:0000078","entity_name":null,"entity_type":null},{"created":"2023-01-03T13:01:19.100383+11:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Anemia, HP:0001903; Abnormality of thumb morphology, HP:0001172\nList of related panels changed from  to Anemia; HP:0001903; Abnormality of thumb morphology; HP:0001172","entity_name":null,"entity_type":null},{"created":"2023-01-03T12:58:00.439635+11:00","panel_name":"Diabetes Insipidus","panel_id":3445,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Polydipsia, HP:0001959; Polyuria, HP:0000103","entity_name":null,"entity_type":null},{"created":"2023-01-03T12:57:50.692807+11:00","panel_name":"Diabetes Insipidus","panel_id":3445,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Polydipsia; HP:0001959; Polyuria; HP:0000103","entity_name":null,"entity_type":null},{"created":"2023-01-03T12:56:44.841174+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormal blistering of the skin, HP:0008066; Alopecia, HP:0001596","entity_name":null,"entity_type":null},{"created":"2023-01-03T12:56:12.890138+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Abnormal blistering of the skin; HP:0008066; Alopecia; HP:0001596\nPanel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2023-01-03T12:54:08.498034+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Unusual infections, HP:0032101\nList of related panels changed from  to Unusual infections; HP:0032101","entity_name":null,"entity_type":null},{"created":"2023-01-03T12:51:57.475093+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.152","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Hearing impairment, HP:0000365\nList of related panels changed from  to Hearing impairment; HP:0000365","entity_name":null,"entity_type":null},{"created":"2023-01-03T12:50:03.032140+11:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormal corneal morphology, HP:0000481\nList of related panels changed from  to Abnormal corneal morphology; HP:0000481","entity_name":null,"entity_type":null},{"created":"2023-01-03T12:48:17.348006+11:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Congenital stationary night blindness, HP:0007642; Retinal dystrophy, HP:0000556\nList of related panels changed from  to Congenital stationary night blindness; HP:0007642; Retinal dystrophy; HP:0000556","entity_name":null,"entity_type":null},{"created":"2023-01-03T12:46:44.733296+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Abnormality of eye movement; HP:0000496","entity_name":null,"entity_type":null},{"created":"2023-01-03T12:45:28.084831+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Abnormal transferrin saturation; HP:0040135","entity_name":null,"entity_type":null},{"created":"2023-01-03T12:43:18.180404+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Retinal dystrophy; HP:0000556","entity_name":null,"entity_type":null},{"created":"2023-01-03T12:40:37.401084+11:00","panel_name":"Complement Deficiencies","panel_id":224,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormality of complement system, HP:0005339\nList of related panels changed from  to Abnormality of complement system; HP:0005339","entity_name":null,"entity_type":null},{"created":"2023-01-03T12:34:39.350710+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Combined immunodeficiency, HP:0005387\nList of related panels changed from  to Combined immunodeficiency; MONDO:0015131; Combined immunodeficiency; HP:0005387","entity_name":null,"entity_type":null},{"created":"2023-01-03T12:31:54.191140+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Ciliopathy; MONDO:0005308","entity_name":null,"entity_type":null},{"created":"2023-01-03T12:30:39.179750+11:00","panel_name":"Chronic granulomatous disease","panel_id":3159,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Recurrent bacterial infections, HP:0002718\nList of related panels changed from Chronic granulomatous disease; MONDO:0018305 to Chronic granulomatous disease; MONDO:0018305; Recurrent bacterial infections; HP:0002718","entity_name":null,"entity_type":null},{"created":"2023-01-03T12:29:51.623653+11:00","panel_name":"Chronic granulomatous disease","panel_id":3159,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Chronic granulomatous disease; MONDO:0018305","entity_name":null,"entity_type":null},{"created":"2023-01-03T12:26:26.597314+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from Cardiomyopathy; HP:0001638 to Cardiomyopathy; HP:0001638;Abnormality of the myocardium; HP:0001637","entity_name":null,"entity_type":null},{"created":"2023-01-03T12:23:03.665780+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Haemolytic anaemia, HP:0001878\nList of related panels changed from  to Haemolytic anaemia; HP:0001878","entity_name":null,"entity_type":null},{"created":"2022-12-30T17:04:03.195173+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1820","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ECHS1 as ready","entity_name":"ECHS1","entity_type":"gene"},{"created":"2022-12-30T17:04:03.182368+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1820","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: echs1 has been classified as Green List (High Evidence).","entity_name":"ECHS1","entity_type":"gene"},{"created":"2022-12-30T17:03:46.580495+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1820","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ECHS1 as Green List (high evidence)","entity_name":"ECHS1","entity_type":"gene"},{"created":"2022-12-30T17:03:46.566634+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1820","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: echs1 has been classified as Green List (High Evidence).","entity_name":"ECHS1","entity_type":"gene"},{"created":"2022-12-30T17:03:34.922459+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1819","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ECHS1 was added\ngene: ECHS1 was added to gNBS. Sources: Expert list\ntreatable, metabolic tags were added to gene: ECHS1.\nMode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ECHS1 were set to 32642440\nPhenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277\nReview for gene: ECHS1 was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nUsually presents in infancy.\r\n\r\nTreatable-ID – level 4 evidence: valine restriction improves psychomotor/cognitive development/IQ; improves neurological manifestations (incl. neuro-imaging); improves systemic manifestations (PMID: 32642440) \nSources: Expert list","entity_name":"ECHS1","entity_type":"gene"},{"created":"2022-12-30T17:00:55.967947+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1818","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHFR as ready","entity_name":"DHFR","entity_type":"gene"},{"created":"2022-12-30T17:00:55.955421+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1818","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhfr has been classified as Green List (High Evidence).","entity_name":"DHFR","entity_type":"gene"},{"created":"2022-12-30T17:00:51.225061+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1818","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DHFR as Green List (high evidence)","entity_name":"DHFR","entity_type":"gene"},{"created":"2022-12-30T17:00:51.207934+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1818","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhfr has been classified as Green List (High Evidence).","entity_name":"DHFR","entity_type":"gene"},{"created":"2022-12-30T17:00:38.963697+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1817","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DHFR was added\ngene: DHFR was added to gNBS. Sources: Expert Review\ntreatable, metabolic tags were added to gene: DHFR.\nMode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHFR were set to Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839\nReview for gene: DHFR was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nCongenital onset.\r\n\r\nTreatment: folinic acid.\r\n\r\nNon-genetic confirmatory testing:   complete blood count with MCV and CSF 5-methyltetrahydrofolate level. \nSources: Expert Review","entity_name":"DHFR","entity_type":"gene"},{"created":"2022-12-30T16:58:33.778552+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1816","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJC12 as ready","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2022-12-30T16:58:33.763127+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1816","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc12 has been classified as Green List (High Evidence).","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2022-12-30T16:58:27.823523+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1816","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAJC12 as Green List (high evidence)","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2022-12-30T16:58:27.810818+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1816","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc12 has been classified as Green List (High Evidence).","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2022-12-30T16:58:13.960801+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1815","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAJC12 was added\ngene: DNAJC12 was added to gNBS. Sources: Expert Review\ntreatable, metabolic tags were added to gene: DNAJC12.\nMode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384\nReview for gene: DNAJC12 was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nManifests as mild hyperphenylalaninaemia that would be detected on NBS – untreated results in axial hypotonia, dystonia, nystagmus, global developmental delay,\r\nand intellectual disability.\r\n\r\nFrom Treatable-ID, level 4 evidence that BH4, L-dopa + carbidopa +/-, 5-\r\nhydroxytryptophan improves psychomotor/cognitive development/IQ; prevents, halts, or slows clinical deterioration and improves neurological manifestations. \nSources: Expert Review","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2022-12-30T16:55:39.677285+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1814","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALM as ready","entity_name":"GALM","entity_type":"gene"},{"created":"2022-12-30T16:55:39.660800+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1814","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galm has been classified as Green List (High Evidence).","entity_name":"GALM","entity_type":"gene"},{"created":"2022-12-30T16:55:34.532221+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1814","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GALM as Green List (high evidence)","entity_name":"GALM","entity_type":"gene"},{"created":"2022-12-30T16:55:34.519422+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1814","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galm has been classified as Green List (High Evidence).","entity_name":"GALM","entity_type":"gene"}]}