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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1013",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1011",
"results": [
{
"created": "2022-02-02T09:26:03.847978+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LEMD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LEMD3",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:25:20.226112+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITPR1 as ready",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:25:20.208817+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itpr1 has been classified as Red List (Low Evidence).",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:25:16.647557+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITPR1 were changed from SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE; Gillespie Syndrome; SPINOCEREBELLAR ATAXIA TYPE15 to Spinocerebellar ataxia 15 MIM#606658; Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360; Gillespie syndrome, MIM# 206700",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:25:03.709247+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITPR1 were set to ",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:24:02.344803+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UROS as ready",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:24:02.328945+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uros has been classified as Green List (High Evidence).",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:23:30.489084+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UROS as Green List (high evidence)",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:23:30.479426+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uros has been classified as Green List (High Evidence).",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:22:47.808124+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MVK as ready",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:22:47.794508+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mvk has been classified as Green List (High Evidence).",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:22:38.979253+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MVK as Green List (high evidence)",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:22:38.967193+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mvk has been classified as Green List (High Evidence).",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:22:00.506179+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMOC2 as ready",
"entity_name": "SMOC2",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:22:00.482409+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smoc2 has been classified as Green List (High Evidence).",
"entity_name": "SMOC2",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:21:56.866020+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMOC2 were set to PMID: 22152679, 23317772, 32908163",
"entity_name": "SMOC2",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:20:59.451413+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMB2 as ready",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:20:59.440041+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:20:47.975147+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMB2 as Amber List (moderate evidence)",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:20:47.959259+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-02-01T18:20:19.449039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10823",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: PLCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665001, 22458588, 21665001, 30003652, 33786625, 31082376, 32265483, 31049339; Phenotypes: Nail disorder, nonsyndromic congenital, 3, (leukonychia) MIM#151600, nonsyndromic congenital nail disorder 3 MONDO:0007900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PLCD1",
"entity_type": "gene"
},
{
"created": "2022-02-01T18:19:20.339801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10823",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: AKAP10: Rating: RED; Mode of pathogenicity: None; Publications: 12646697, 17485678; Phenotypes: {Cardiac conduction defect, susceptibility to} MIM#115080, sudden cardiac arrest MONDO:0007264; Mode of inheritance: Unknown; Current diagnostic: yes",
"entity_name": "AKAP10",
"entity_type": "gene"
},
{
"created": "2022-02-01T18:18:39.452880+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10823",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: HMCN1: Rating: RED; Mode of pathogenicity: None; Publications: 25986072, 16020313, 14570714, 27007659; Phenotypes: {Macular degeneration, age-related, 1} MIM#603075, age related macular degeneration 1 MONDO:0011285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "HMCN1",
"entity_type": "gene"
},
{
"created": "2022-02-01T18:14:54.960838+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3031",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: PYROXD1: Rating: RED; Mode of pathogenicity: None; Publications: 30345904, 30515627, 27745833; Phenotypes: Myopathy, myofibrillar, 8 (MIM#617258); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2022-02-01T18:14:01.645998+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10823",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: CCND1: Rating: RED; Mode of pathogenicity: None; Publications: 12097293, 23502783, 21131975, 14657069, 23540573, 20633772; Phenotypes: {Colorectal cancer, susceptibility to} MIM#114500, {Multiple myeloma, susceptibility to} MIM#254500, {von Hippel-Lindau syndrome, modifier of} MIM#193300; Mode of inheritance: Unknown; Current diagnostic: yes",
"entity_name": "CCND1",
"entity_type": "gene"
},
{
"created": "2022-02-01T18:09:47.149773+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3031",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: PYGM: Rating: RED; Mode of pathogenicity: None; Publications: 1701414, 8316268, 17915571, 17994553, 21880526; Phenotypes: McArdle disease, MIM# 232600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2022-02-01T18:02:20.227903+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3031",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: PTPN14: Rating: GREEN; Mode of pathogenicity: None; Publications: 20826270, https://doi.org/10.1016/j.mgene.2017.07.006; Phenotypes: Choanal atresia and lymphedema MIM#613611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2022-02-01T14:59:35.144057+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3031",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15877279, 17667862, 32646569; Phenotypes: Glycogen storage disease of heart, lethal congenital MIM#261740; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2022-02-01T14:52:32.156604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10823",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: PADI4: Rating: RED; Mode of pathogenicity: None; Publications: 16449362, 19470526, 26474773; Phenotypes: Susceptibility to rheumatoid arthritis; Mode of inheritance: Unknown; Current diagnostic: yes",
"entity_name": "PADI4",
"entity_type": "gene"
},
{
"created": "2022-02-01T13:59:18.509469+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3031",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: None; Publications: 29432562, 28942967, 28942967; Phenotypes: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265, Developmental and epileptic encephalopathy 91 617711; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "PPP3CA",
"entity_type": "gene"
},
{
"created": "2022-02-01T13:20:56.106089+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3031",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913037, 28051070; Phenotypes: Acrofacial dysostosis, Cincinnati type, (MIM#616462); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2022-02-01T13:08:41.523671+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3031",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: POLG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 16685652, 21555342, 27592148, 31778857; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131, Mitochondrial DNA depletion syndrome 16 , MIM# 618528; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:59:51.867998+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3031",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22560091, 23315542, 33131036, 32201334, 28328130, 27007857, 23913798; Phenotypes: Auriculocondylar syndrome 2, MIM# 614669; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:41:14.527172+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLCB1 as ready",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:41:14.516924+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcb1 has been classified as Green List (High Evidence).",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:38:26.597665+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCB1 were changed from to Epileptic encephalopathy, early infantile, 12 (MIM#613722)",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:38:03.350874+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLCB1 were set to ",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:37:42.188006+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLCB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:37:24.708029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: PLCB1.",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:37:12.878961+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24684524, 20833646, 22690784, 26818157; Phenotypes: Epileptic encephalopathy, early infantile, 12 (MIM#613722); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:36:10.955171+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLCB1 as ready",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:36:10.944148+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcb1 has been classified as Red List (Low Evidence).",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:36:06.964257+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCB1 were changed from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 to Epileptic encephalopathy, early infantile, 12 (MIM#613722)",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:35:02.297506+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLCB1 were set to ",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:34:47.276651+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLCB1 as Red List (low evidence)",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:34:47.265957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcb1 has been classified as Red List (Low Evidence).",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:34:33.750163+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLCB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 12 (MIM#613722); Mode of inheritance: None",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:32:48.808039+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLAG1 as ready",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:32:48.785901+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plag1 has been classified as Green List (High Evidence).",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:32:44.076074+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLAG1 were set to ",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:32:32.927463+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLAG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:27:17.115615+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLAG1 as Green List (high evidence)",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:27:17.104308+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plag1 has been classified as Green List (High Evidence).",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:27:04.863840+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28796236, 29913240, 33291420, 32546215; Phenotypes: Silver-Russell syndrome, MIM#618907; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:25:38.096988+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLAA as ready",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:25:38.078428+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plaa has been classified as Green List (High Evidence).",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:25:34.513367+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLAA were changed from to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:25:03.258142+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLAA were set to ",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:24:28.759126+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:23:48.134823+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 28007986, 28413018, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:23:11.038145+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLAA as ready",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:23:11.026325+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plaa has been classified as Green List (High Evidence).",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:23:04.867553+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLAA were changed from to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:22:30.794757+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLAA were set to ",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:22:03.773443+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:21:10.382990+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 28007986, 28413018, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:20:23.616821+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLAA as ready",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:20:23.601502+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plaa has been classified as Green List (High Evidence).",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:20:14.893692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLAA were changed from to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:19:54.885585+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLAA were set to ",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:19:35.187266+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:19:15.379230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 28007986, 28413018, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:18:25.682595+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLAA as ready",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:18:25.666845+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plaa has been classified as Green List (High Evidence).",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:18:21.443842+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLAA were changed from Lethal Infantile Epileptic Encephalopathy to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:13:36.812267+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLAA were set to ",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:13:18.738040+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLAA as Green List (high evidence)",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:13:18.725796+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plaa has been classified as Green List (High Evidence).",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:13:07.399689+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy.\r\n\r\nAt least 5 families reported.; to: NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy.\r\n\r\nAt least 5 families reported. Mouse model.",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:12:59.026795+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLAA: Changed rating: GREEN",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:12:30.930496+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLAA: Rating: ; Mode of pathogenicity: None; Publications: 28007986, 28413018, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:10:25.891077+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3C2A as ready",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:10:25.880798+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3c2a has been classified as Green List (High Evidence).",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:10:20.549638+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIK3C2A were set to ",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:10:04.358081+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3C2A as Green List (high evidence)",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:10:04.347957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3c2a has been classified as Green List (High Evidence).",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:09:52.102565+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated families, ID is part of the phenotype. \nSources: Expert list; to: Three unrelated families, cataracts and skeletal abnormalities are part of the phenotype. \r\nSources: Expert list",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:09:00.351117+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIH1D3 as ready",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:09:00.338449+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pih1d3 has been classified as Green List (High Evidence).",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:08:56.287250+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIH1D3 were set to ",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:08:43.445213+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIH1D3 as Green List (high evidence)",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:08:43.434618+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pih1d3 has been classified as Green List (High Evidence).",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:08:09.903366+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGY as ready",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:08:09.893227+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigy has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:08:04.279004+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGY were changed from Glycosylphosphatidylinositol deficiency to Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:07:51.262816+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGY were set to ",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:07:37.288316+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated families only; variable phenotype described. One family had a promoter region homozygous variant.; to: Two unrelated families only; variable phenotype described. One family had a promoter region homozygous variant.\r\n\r\nJoint contractures, microcephaly, cataracts and other ultrasound-detectable abnormalities reported.",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:06:18.604575+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGN as ready",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:06:18.584258+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pign has been classified as Green List (High Evidence).",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2022-02-01T12:06:14.600746+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGN were set to ",
"entity_name": "PIGN",
"entity_type": "gene"
}
]
}