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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1919",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1917",
"results": [
{
"created": "2020-02-28T20:04:25.515991+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBM20 were changed from to Cardiomyopathy, dilated, 1DD 613172 AD",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:03:38.807303+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBM20 were set to ",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:03:16.369491+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RBM20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:02:07.121156+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC52A1 as ready",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:02:07.112403+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc52a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:02:03.580792+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC52A1 were changed from to Riboflavin deficiency, MIM#615026",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:01:32.585181+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC52A1 were set to ",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:01:03.848366+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC52A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:00:41.122341+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC52A1 as Red List (low evidence)",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:00:41.109505+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc52a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:00:06.120304+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC52A1: Rating: RED; Mode of pathogenicity: None; Publications: 29122468, 17689999; Phenotypes: Riboflavin deficiency, MIM#615026; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T19:55:57.455581+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC52A1 as ready",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T19:55:57.451686+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Essentially only one family.",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T19:55:57.421709+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc52a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T19:55:22.783966+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC52A1 as ready",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T19:55:22.770782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc52a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T19:55:10.178059+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC52A1 were changed from to Riboflavin deficiency, 615026",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T19:54:52.700768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC52A1 were set to ",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T19:54:03.636653+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC52A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T19:53:20.850251+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC52A1 as Red List (low evidence)",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T19:53:20.841453+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc52a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:42:46.695574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTCH2: Rating: RED; Mode of pathogenicity: None; Publications: 30820324, 23479190, 18285427; Phenotypes: Basal cell nevus syndrome, MIM#109400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:42:06.494623+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTCH2 were set to 30820324",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:41:27.504274+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTCH2 as ready",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:41:27.490730+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptch2 has been classified as Red List (Low Evidence).",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:41:20.580439+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTCH2 were changed from to Basal cell nevus syndrome, MIM#109400",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:40:45.965919+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTCH2 were set to ",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:40:23.113639+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:39:58.562709+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTCH2 as Red List (low evidence)",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:39:58.553579+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptch2 has been classified as Red List (Low Evidence).",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:39:29.410901+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTCH2: Rating: RED; Mode of pathogenicity: None; Publications: 30820324, 23479190, 18285427; Phenotypes: Basal cell nevus syndrome, 109400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:35:51.814812+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTCH2 as ready",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:35:51.805770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptch2 has been classified as Red List (Low Evidence).",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:35:43.217522+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTCH2 were changed from to Basal cell carcinoma, somatic 605462; Basal cell nevus syndrome, 109400; Medulloblastoma, somatic",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:35:23.163641+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTCH2 were set to ",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:35:03.236390+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:34:46.026600+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTCH2 as Red List (low evidence)",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:34:46.013672+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptch2 has been classified as Red List (Low Evidence).",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:34:16.345999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1496",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "changed review comment from: No patients reported with ZNF592 variant that is clearly disease causing.\r\n\r\nA 2010 paper published a biallelic missense variant segregating in one family with non-progressive, autosomal recessive, congenital cerebellar ataxia; however functional data not strongly supportive of pathogenicity (PMID: 20531441). Same authors later identified a homozygous WDR73 variant in that family which explains the phenotype (PMID: 26123727).; to: No patients reported with ZNF592 variant that is clearly disease causing.\r\n\r\nA 2010 paper published a biallelic missense variant segregating in one family with non-progressive, autosomal recessive, congenital cerebellar ataxia; however functional data not strongly conclusive for pathogenicity (PMID: 20531441). Same authors later identified a homozygous WDR73 variant in that family which explains the phenotype (PMID: 26123727).",
"entity_name": "ZNF592",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:33:28.942362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1496",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: ZNF592: Rating: RED; Mode of pathogenicity: None; Publications: 20531441, 26123727; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ZNF592",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:29:18.084481+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL2A1 as ready",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:29:18.075749+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col2a1 has been classified as Green List (High Evidence).",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:29:08.903336+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL2A1 were changed from to Achondrogenesis, type II or hypochondrogenesis 200610; Avascular necrosis of the femoral head 608805; Czech dysplasia 609162; Epiphyseal dysplasia, multiple, with myopia and deafness 132450; Kniest dysplasia 156550; Legg-Calve-Perthes disease 150600; Osteoarthritis with mild chondrodysplasia 604864; Platyspondylic skeletal dysplasia, Torrance type 151210; SED congenita 183900; SMED Strudwick type 184250; Spondyloepiphyseal dysplasia, Stanescu type 616583; Spondyloperipheral dysplasia 271700; Stickler sydrome, type I, nonsyndromic ocular 609508; Stickler syndrome, type I 108300; Vitreoretinopathy with phalangeal epiphyseal dysplasia",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:28:42.481139+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL2A1 were set to ",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:28:26.538222+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:27:34.164675+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNMT1 as ready",
"entity_name": "DNMT1",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:27:34.155784+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnmt1 has been classified as Green List (High Evidence).",
"entity_name": "DNMT1",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:27:19.708734+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT1 were changed from to Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116",
"entity_name": "DNMT1",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:26:54.481633+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNMT1 were set to ",
"entity_name": "DNMT1",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:26:37.478363+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNMT1",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:25:10.831837+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSG2 as ready",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:25:10.822298+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsg2 has been classified as Green List (High Evidence).",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:25:04.723769+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSG2 were changed from to Arrhythmogenic right ventricular dysplasia, 10, 610193; Cardiomyopathy, dilated, 1BB, 612877",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:24:32.349975+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSG2 were set to ",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2020-02-28T18:24:09.227734+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSG2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:13:09.595065+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP135 as ready",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:13:09.586130+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep135 has been classified as Green List (High Evidence).",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:11:42.308896+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP135 were changed from Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673 to Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:11:23.382795+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP135 were changed from to Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:10:59.028079+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP135 were set to ",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:10:25.372548+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP135 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:09:52.528017+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP135: Rating: GREEN; Mode of pathogenicity: None; Publications: 30214071, 22521416; Phenotypes: Microcephalic primordial dwarfism, Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:09:12.859379+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP135 as ready",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:09:12.850713+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep135 has been classified as Green List (High Evidence).",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:08:59.498724+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP135 were changed from to Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:08:30.640330+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP135 were set to ",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:08:07.432396+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP135 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:07:37.712679+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP135: Rating: GREEN; Mode of pathogenicity: None; Publications: 30214071, 22521416; Phenotypes: Microcephalic primordial dwarfism, Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:06:19.450799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP135 as ready",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:06:19.441904+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep135 has been classified as Green List (High Evidence).",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:05:53.131738+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP135 were changed from to Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:05:38.911778+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP135 were set to ",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:05:17.159756+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP135 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:04:27.483099+11:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP21A2 as ready",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:04:27.474083+11:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp21a2 has been classified as Green List (High Evidence).",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:04:20.119111+11:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP21A2 were changed from to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:03:50.320915+11:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP21A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:02:39.497701+11:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910, Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:00:53.030566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP21A2 as ready",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:00:53.023582+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Beware pseudogene and structural variants make NGS data difficult to interpret.",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:00:52.978146+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp21a2 has been classified as Green List (High Evidence).",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2020-02-28T17:00:10.344196+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP21A2 were changed from to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:59:44.627029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CYP21A2.",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:59:42.608062+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP21A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:58:37.757435+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK13 as ready",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:58:37.749012+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk13 has been classified as Green List (High Evidence).",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:58:30.079533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK13 were changed from to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:58:10.846333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK13 were set to ",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:57:47.329725+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDK13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:57:28.149755+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDK13: Rating: GREEN; Mode of pathogenicity: None; Publications: 29021403, 29393965, 30904094; Phenotypes: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:56:12.684574+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK13 were changed from Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:55:56.747965+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK13 as ready",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:55:56.739735+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk13 has been classified as Green List (High Evidence).",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:55:46.564063+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK13 were changed from to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:55:12.249425+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK13 were set to ",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:54:39.334114+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDK13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:54:06.384737+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDK13: Rating: GREEN; Mode of pathogenicity: None; Publications: 29021403, 29393965, 30904094; Phenotypes: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:52:45.634783+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK13 as ready",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:52:45.626048+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk13 has been classified as Green List (High Evidence).",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:52:42.546042+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK13 were changed from to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360",
"entity_name": "CDK13",
"entity_type": "gene"
}
]
}