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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=916",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=914",
"results": [
{
"created": "2022-03-25T14:00:58.031659+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2022-03-25T14:00:22.293464+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMB2 as ready",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-03-25T14:00:22.281687+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamb2 has been classified as Green List (High Evidence).",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-03-25T14:00:17.850626+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMB2 were changed from to Pierson syndrome, MIM# 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-03-25T13:59:45.948298+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMB2 were set to ",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-03-25T13:59:12.279020+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-03-25T13:58:38.914363+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14136829, 15372515, 17256789; Phenotypes: Pierson syndrome, MIM# 609049, Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-03-25T11:54:39.244803+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11911",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LBR were changed from to Greenberg skeletal dysplasia, MIM# 215140",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2022-03-25T11:54:37.741830+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11910",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LBR as ready",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2022-03-25T11:54:37.732406+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11910",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lbr has been classified as Green List (High Evidence).",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2022-03-25T11:53:48.271369+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11910",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LBR were set to ",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2022-03-25T11:52:51.483318+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11909",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LBR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2022-03-25T11:42:54.436108+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11908",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LAT as ready",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2022-03-25T11:42:54.425074+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11908",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lat has been classified as Green List (High Evidence).",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2022-03-25T11:41:30.238396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11908",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:59:55.907517+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11907",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LAT were changed from to Immunodeficiency 52, MIM# 617514",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:59:09.314926+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11906",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27522155, 27242165, 10204488; Phenotypes: Immunodeficiency 52, MIM# 617514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:54:02.633776+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.232",
"user_name": "Abhijit Kulkarni",
"item_type": "entity",
"text": "reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27400125, 35178555; Phenotypes: Lymphatic malformation 7 (MIM#617300), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:49:18.798267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMB2 were changed from to Pierson syndrome, MIM# 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:46:51.146347+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMB2 were set to ",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:46:30.625446+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:45:46.111513+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMPD1 as ready",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:45:46.097354+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smpd1 has been classified as Green List (High Evidence).",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:45:40.959544+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:45:11.498175+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMPD1 were set to ",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:44:36.347043+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: L1CAM as ready",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:44:36.333412+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: l1cam has been classified as Green List (High Evidence).",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:44:33.340950+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: L1CAM were changed from to Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:41:58.800374+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:41:29.019527+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27928775; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:39:02.657611+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: L1CAM were changed from Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140 to Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140; Corpus callosum, partial agenesis of, MIM# 304100",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:38:30.239417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000, Corpus callosum, partial agenesis of, MIM# 304100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:35:26.597449+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: L1CAM were set to ",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:34:58.895709+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: L1CAM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:34:26.119186+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438988, 7920660, 8401593, 19565280; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000, MASA syndrome, MIM# 303350, L1 syndrome, MONDO:0017140; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:30:34.545674+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: L1CAM were set to ",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:30:13.098851+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: L1CAM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:29:24.099039+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPRL3 as ready",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:29:24.086792+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nprl3 has been classified as Green List (High Evidence).",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:29:21.009838+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPRL3 were changed from to Epilepsy, familial focal, with variable foci 3- MIM#617118",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:28:44.800351+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPRL3 were set to ",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:28:07.781133+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPRL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:27:17.088376+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPRL3 as ready",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:27:17.077548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nprl3 has been classified as Green List (High Evidence).",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:27:09.383176+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPRL3 were changed from to Epilepsy, familial focal, with variable foci 3- MIM#617118",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:26:41.613015+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPRL3 were set to ",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:23:21.352230+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.229",
"user_name": "Abhijit Kulkarni",
"item_type": "entity",
"text": "reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30442200; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220, MONDO:0009662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2022-03-25T10:15:50.587198+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPRL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:15:18.802776+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPPC as ready",
"entity_name": "NPPC",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:15:18.787507+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nppc has been classified as Red List (Low Evidence).",
"entity_name": "NPPC",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:08:28.231630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPPC were changed from to short stature and non-specific skeletal anomalies - MONDO#0014551",
"entity_name": "NPPC",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:08:08.862381+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPPC were set to ",
"entity_name": "NPPC",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:07:47.834588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPPC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NPPC",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:07:29.489432+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NPPC as Red List (low evidence)",
"entity_name": "NPPC",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:07:29.479239+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nppc has been classified as Red List (Low Evidence).",
"entity_name": "NPPC",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:06:29.283971+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH2 as ready",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:06:29.272000+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch2 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:06:26.849451+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205)",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:05:58.632597+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOTCH2 were set to ",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:05:29.073426+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:04:45.512676+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 2 (MIM#610205); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:04:31.644162+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH2 were changed from Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500) to Hajdu-Cheney syndrome (MIM#102500)",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:03:28.007062+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH2 as ready",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:03:27.992926+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch2 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:03:25.505569+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:01:49.047488+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOTCH2 were set to ",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:01:20.105247+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:00:22.390606+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH2 as ready",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:00:22.377574+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch2 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T09:00:19.202574+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:58:31.598743+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOTCH2 were set to ",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:57:58.630643+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:57:07.520295+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH2 as ready",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:57:07.508188+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch2 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:56:52.475518+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:56:21.478361+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOTCH2 were set to ",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:55:51.745897+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:54:59.437516+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH2 as ready",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:54:59.425384+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch2 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:54:13.174206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:53:52.740220+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOTCH2 were set to ",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:53:33.451834+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:52:44.104361+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH1 as ready",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:52:44.094799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch1 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:49:57.624614+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH1 were changed from to Adams-Oliver syndrome 5 (MIM#616028)",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:49:37.539196+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOTCH1 were set to ",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:48:14.353372+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:47:25.450459+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH1 as ready",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:47:25.437006+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch1 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:47:22.701192+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH1 were changed from to Adams-Oliver syndrome 5 (MIM#616028)",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:46:52.961396+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOTCH1 were set to ",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:42:54.813755+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:42:10.928705+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NONO as ready",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:42:10.906666+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nono has been classified as Green List (High Evidence).",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:42:02.375095+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NONO were changed from to Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:41:35.203842+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NONO were set to ",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:41:13.885430+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NONO was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:40:41.224051+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NONO as ready",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:40:41.207614+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nono has been classified as Green List (High Evidence).",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:40:37.175074+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NONO were changed from to Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967",
"entity_name": "NONO",
"entity_type": "gene"
}
]
}