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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=648",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&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"
}
]
}