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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=324",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=322",
"results": [
{
"created": "2024-12-12T20:14:35.954688+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sco2 has been classified as Green List (High Evidence).",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:14:32.699455+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCO2 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3) to Mitochondrial complex IV deficiency, nuclear type 2 MIM#604377",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:14:17.542267+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCO2 were set to ",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:13:53.235176+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPH9 as ready",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:13:53.224318+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph9 has been classified as Green List (High Evidence).",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:13:45.492491+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPH9 were changed from Ciliary dyskinesia, primary, 12, 612650 (3) to Ciliary dyskinesia, primary, 12, MIM#612650",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:13:24.379922+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPH9 were set to ",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:12:53.516326+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB3GAP2 as ready",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:12:53.487662+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab3gap2 has been classified as Green List (High Evidence).",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:12:49.499962+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome 2, 614225 (3) to Warburg micro syndrome MONDO:0016649",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:12:36.307879+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB3GAP2 were set to ",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:11:50.305184+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: QARS as ready",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:11:50.290360+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qars has been classified as Green List (High Evidence).",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:11:42.526204+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: QARS were changed from Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3) to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy MIM#615760",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:11:29.117077+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: QARS were set to ",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:11:03.141230+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRF1 as ready",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:11:03.118026+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prf1 has been classified as Green List (High Evidence).",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:10:59.145133+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRF1 were changed from Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) to Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:10:45.474361+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRF1 were set to ",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2024-12-12T17:51:56.693271+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.730",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8439335, 9360501, 15240589, 9814506, 12788848, 8772616; Phenotypes: Hypoaldosteronism, congenital, due to CMO I deficiency MIM#203400, Hypoaldosteronism, congenital, due to CMO II deficiency MIM#610600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2024-12-12T17:42:48.934871+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.730",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16142236, 19225462, 17675530; Phenotypes: 3-M syndrome 1 MIM#273750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2024-12-12T16:22:05.250025+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.730",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "gene: OTULIN was added\ngene: OTULIN was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2024-12-12T16:16:03.647738+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.730",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: None; Publications: 27530400, 17033971, 22422540; Phenotypes: Hypomagnesemia 5, renal, with ocular involvement, MIM#248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2024-12-12T16:13:29.864257+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.730",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "gene: OXCT1 was added\ngene: OXCT1 was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2024-12-12T16:10:31.946712+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.730",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "gene: HPDL was added\ngene: HPDL was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2024-12-12T16:04:01.194682+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.730",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "gene: DBR1 was added\ngene: DBR1 was added to Prepair 1000+. Sources: Expert list\nMode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2024-12-12T14:16:33.344803+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.730",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 26307081, 26338283, 22147658, 17171570, 21738389, 27117407; Phenotypes: Usher syndrome, type 2D MIM#611383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WHRN",
"entity_type": "gene"
},
{
"created": "2024-12-12T14:03:56.791371+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.730",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: MYMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 28681861; Phenotypes: Carey-Fineman-Ziter syndrome, 254940 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2024-12-12T14:01:20.062652+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMT1 as ready",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2024-12-12T14:01:20.047105+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomt1 has been classified as Green List (High Evidence).",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2024-12-12T14:01:16.892880+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3) to Myopathy caused by variation in POMT1 MONDO:0700070",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2024-12-12T14:00:14.026434+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.729",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CTSK as ready",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2024-12-12T14:00:13.993785+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.729",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: ctsk has been classified as Green List (High Evidence).",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2024-12-12T14:00:09.745838+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.729",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CTSK were set to ",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:59:54.698241+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POMT1 were set to ",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:59:49.198592+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.727",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 33151655; Phenotypes: Pycnodysostosis MIM#265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:58:39.062720+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMAA as ready",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:58:39.043251+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmaa has been classified as Green List (High Evidence).",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:58:34.549003+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMAA were changed from Methylmalonic aciduria, vitamin B12-responsive, 251100 (3) to Methylmalonic aciduria, vitamin B12-responsive, MIM#251100",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:58:04.572674+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MERTK as ready",
"entity_name": "MERTK",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:58:04.554165+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mertk has been classified as Green List (High Evidence).",
"entity_name": "MERTK",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:58:01.407983+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MERTK were changed from Retinitis pigmentosa 38, 613862 (3) to Retinitis pigmentosa 38, MIM#613862",
"entity_name": "MERTK",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:57:37.537199+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MERTK were set to ",
"entity_name": "MERTK",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:56:33.237134+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.724",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CHRND as ready",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:56:33.223609+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.724",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: chrnd has been classified as Green List (High Evidence).",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:56:28.866267+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.724",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: CHRND were changed from Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3) to Multiple pterygium syndrome, lethal type MIM#253290; Myasthenic syndrome, congenital, 3B, fast-channel MIM#616322",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:56:16.339169+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.723",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CHRND were set to ",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:56:12.728211+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MARS as ready",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:56:12.708171+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mars has been classified as Green List (High Evidence).",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:56:10.922276+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.722",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25792360, 32816121, 25527630, 30800049, 32324310, 19290556; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449, congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0014643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:56:03.631743+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MARS were changed from Interstitial lung and liver disease, 615486 (3) to Interstitial lung and liver disease, MIM#615486",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:55:58.873675+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.721",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 30808424; Phenotypes: Multiple pterygium syndrome, lethal type MIM#253290, Myasthenic syndrome, congenital, 3B, fast-channel MIM#616322; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:55:49.170122+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MARS were set to ",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:55:34.921446+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: MARS.",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:54:44.879132+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ1 as ready",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:54:44.857585+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj1 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:54:40.233519+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ1 were changed from Bartter syndrome, type 2, 241200 (3) to Bartter syndrome, type 2, MIM#241200",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:54:29.981461+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.719",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: MED17: Rating: GREEN; Mode of pathogenicity: None; Publications: 30345598, 33756211, 20950787; Phenotypes: Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:53:19.792361+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.719",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CFL2 as ready",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:53:19.776753+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.719",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: cfl2 has been classified as Green List (High Evidence).",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:53:11.738553+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.719",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CFL2 were set to ",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:52:55.557575+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.718",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: CFL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29457652, 17160903, 22560515; Phenotypes: Nemaline myopathy 7, autosomal recessive MIM#610687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:50:44.605885+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.718",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 19776401, 20622910, 21931011, 26659092, 19898472, 25422492; Phenotypes: Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:49:54.839273+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.718",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, beta, 248510 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:49:54.324446+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.718",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CCDC88C as ready",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:49:54.298002+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.718",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: ccdc88c has been classified as Green List (High Evidence).",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:49:50.743528+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.718",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC88C were changed from Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3) to Hydrocephalus, congenital, 1 MIM#236600",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:49:33.013306+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.717",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CCDC88C were set to ",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:49:14.290993+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.716",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: None; Publications: 34092257, 29341397, 23042809, 21031079; Phenotypes: Hydrocephalus, congenital, 1 MIM#236600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:44:31.363061+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.716",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: DNAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10577904, 11231901, 32502479, 31765523, 30622330; Phenotypes: Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAI1",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:44:28.670890+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.716",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: TUSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452889, 18455129, 21739581, 27148795, 31606977, 28397838, 18452889, 23825019; Phenotypes: Intellectual developmental disorder, autosomal recessive 7 MIM#611093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:41:21.713181+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.716",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 12142464, 18022865, 22102620, 32633470, 31879361, 31765523, 31040315; Phenotypes: Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:41:01.065996+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.716",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: C8orf37 as ready",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:41:01.044536+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.716",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: c8orf37 has been classified as Green List (High Evidence).",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:40:57.737046+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.716",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: C8orf37 were changed from Cone-rod dystrophy 16, 614500 (3) to Cone-rod dystrophy 16, Retinitis pigmentosa 64 MIM#614500",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:40:39.347037+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.715",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: C8orf37 were set to ",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:40:19.971208+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.714",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: C8orf37: Rating: GREEN; Mode of pathogenicity: None; Publications: 22177090, 25113443, 26865426, 25802487; Phenotypes: Retinitis pigmentosa 64 MIM#614500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:39:07.764711+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.714",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:38:58.852141+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.714",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "commented on gene: LYRM7: Well-established gene disease association. Primary mitochondrial disease.",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:38:49.057798+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.714",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: LYRM7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26912632, 24014394; Phenotypes: Mitochondrial complex III deficiency, nuclear type 8, 615838 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:37:47.986862+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.714",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: DLG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24721225, 28777483; Phenotypes: Intellectual developmental disorder, X-linked 90 MIM#300850; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:37:39.373304+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKBKB as ready",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:37:39.356759+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbkb has been classified as Green List (High Evidence).",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:37:30.361800+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKBKB were changed from Immunodeficiency 15, 615592 (3) to Immunodeficiency 15, MIM#615592",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:37:07.226300+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IKBKB were set to ",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:36:26.907903+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.712",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: C21orf2 as ready",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:36:26.891784+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.712",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: c21orf2 has been classified as Green List (High Evidence).",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:36:22.072517+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.712",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: C21orf2 were changed from Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive to Retinal dystrophy with macular staphyloma MIM#617547; Spondylometaphyseal dysplasia, axial MIM#602271",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:36:10.517438+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:36:08.377881+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.711",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: C21orf2 were set to ",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:36:00.542487+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPS1 as ready",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:36:00.525552+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hps1 has been classified as Green List (High Evidence).",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:35:56.482977+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPS1 were changed from Hermansky-Pudlak syndrome 1, 203300 (3) to Hermansky-Pudlak syndrome 1, MIM#203300",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:35:52.928311+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.709",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39232248, 26974433, 27548899, 28422394; Phenotypes: Retinal dystrophy with macular staphyloma MIM#617547, Spondylometaphyseal dysplasia, axial MIM#602271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:35:42.403698+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPS1 were set to ",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:34:23.917355+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.708",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 34704371; Phenotypes: Polymicrogyria with optic nerve hypoplasia MONDO:0013172; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:31:48.213671+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.708",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 12529507, 12529507, 26510951, 21266382; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) 220111 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:30:55.132945+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: HPD.",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:29:18.645712+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.708",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23486545, 24482476, 23176823, 31302745; Phenotypes: Spastic paraplegia 54, autosomal recessive, MIM# 615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2024-12-12T13:29:14.434129+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HFE2 as ready",
"entity_name": "HFE2",
"entity_type": "gene"
}
]
}