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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2000",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1998",
"results": [
{
"created": "2020-01-07T16:00:32.153106+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T16:00:11.198097+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:59:54.583447+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASXL3 were set to 28100473; 27901041; 23383720",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:59:44.376938+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:59:14.501665+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASXL3 were set to ",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:58:40.352015+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:58:02.056566+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:57:26.460208+11:00",
"panel_name": "Angelman Rett like syndromes_VCGS",
"panel_id": 41,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASXL3 were changed from Bainbridge-Ropers syndrome (OMIM # 615485) to Bainbridge-Ropers syndrome (OMIM # 615485)",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:57:03.322477+11:00",
"panel_name": "Angelman Rett like syndromes_VCGS",
"panel_id": 41,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASXL3 as ready",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:57:03.314136+11:00",
"panel_name": "Angelman Rett like syndromes_VCGS",
"panel_id": 41,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asxl3 has been classified as Green List (High Evidence).",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:56:58.053140+11:00",
"panel_name": "Angelman Rett like syndromes_VCGS",
"panel_id": 41,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:56:25.913545+11:00",
"panel_name": "Angelman Rett like syndromes_VCGS",
"panel_id": 41,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASXL3 were set to ",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:55:48.627287+11:00",
"panel_name": "Angelman Rett like syndromes_VCGS",
"panel_id": 41,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:55:09.159638+11:00",
"panel_name": "Angelman Rett like syndromes_VCGS",
"panel_id": 41,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:53:52.403510+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASXL3 as ready",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:53:52.397344+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asxl3 has been classified as Green List (High Evidence).",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:53:47.049187+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:52:09.202955+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASXL3 were set to ",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:51:57.744480+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:50:15.393708+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.698",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: RHOA as ready",
"entity_name": "RHOA",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:50:15.386679+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.698",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: rhoa has been classified as Green List (High Evidence).",
"entity_name": "RHOA",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:49:24.310441+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1517",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:49:09.503075+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.698",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: RHOA as Green List (high evidence)",
"entity_name": "RHOA",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:49:09.491005+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.698",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: rhoa has been classified as Green List (High Evidence).",
"entity_name": "RHOA",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:48:32.070178+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.697",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: RHOA was added\ngene: RHOA was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: RHOA was set to Other\nPublications for gene: RHOA were set to 31570889\nPhenotypes for gene: RHOA were set to normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia\nPenetrance for gene: RHOA were set to Complete\nReview for gene: RHOA was set to GREEN\ngene: RHOA was marked as current diagnostic\nAdded comment: mosaic heterozygous missense variants cause linear hypopigmentation, brain MRI changes with normal cognition, ocular and acral changes \nSources: Literature",
"entity_name": "RHOA",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:10:21.927583+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHOA as ready",
"entity_name": "RHOA",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:10:21.920495+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhoa has been classified as Green List (High Evidence).",
"entity_name": "RHOA",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:10:17.609257+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RHOA as Green List (high evidence)",
"entity_name": "RHOA",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:10:17.589297+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhoa has been classified as Green List (High Evidence).",
"entity_name": "RHOA",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:09:41.949430+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RHOA as Green List (high evidence)",
"entity_name": "RHOA",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:09:41.939614+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhoa has been classified as Green List (High Evidence).",
"entity_name": "RHOA",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:08:16.074359+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AFF3 as ready",
"entity_name": "AFF3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:08:16.065005+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aff3 has been classified as Green List (High Evidence).",
"entity_name": "AFF3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:08:08.670384+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AFF3 as Green List (high evidence)",
"entity_name": "AFF3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:08:08.655613+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aff3 has been classified as Green List (High Evidence).",
"entity_name": "AFF3",
"entity_type": "gene"
},
{
"created": "2020-01-07T15:05:12.477276+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AFF3 was added\ngene: AFF3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AFF3 were set to Intellectual disability; seizures; hypertrichosis\nReview for gene: AFF3 was set to GREEN\nAdded comment: Voisin et al, 2019 (preprint) - New AD disorder associated with de novo missense variants in AFF3. 10 unrelated affected individuals with de novo missense variants. 10/11 had epilepsy. Functional data including animal model. \nSources: Expert list",
"entity_name": "AFF3",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:57:46.491520+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAT3 as ready",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:57:46.483656+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adat3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:57:39.833403+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAT3 as Amber List (moderate evidence)",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:57:39.823218+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adat3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:56:59.426716+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAT3 was added\ngene: ADAT3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAT3 were set to 26842963; 23620220; 30296593\nPhenotypes for gene: ADAT3 were set to Mental retardation autosomal recessive 36, 615286\nReview for gene: ADAT3 was set to AMBER\nAdded comment: ID gene, some individuals reported as having seizures but phenotype yet to be fully elucidated. Note founder variant. \nSources: Expert list",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:50:28.071129+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AARS2 as ready",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:50:28.064491+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aars2 has been classified as Red List (Low Evidence).",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:50:16.510942+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AARS2 were changed from to Combined oxidative phosphorylation deficiency 8, 614096; Leukoencephalopathy progressive with ovarian failure, 615889",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:49:43.286764+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AARS2 were set to ",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:49:09.781156+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:47:55.325671+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AARS2 as Red List (low evidence)",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:47:55.318954+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aars2 has been classified as Red List (Low Evidence).",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:47:13.517414+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AARS2: Rating: RED; Mode of pathogenicity: None; Publications: 21549344, 25817015; Phenotypes: Combined oxidative phosphorylation deficiency 8, 614096, Leukoencephalopathy progressive with ovarian failure, 615889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:20:02.120588+11:00",
"panel_name": "Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS",
"panel_id": 238,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNFRSF1A as ready",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:20:02.110735+11:00",
"panel_name": "Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS",
"panel_id": 238,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfrsf1a has been classified as Green List (High Evidence).",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:17:24.431748+11:00",
"panel_name": "Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS",
"panel_id": 238,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNFRSF1A were changed from Periodic fever, familial, MIM# 142680 to Periodic fever, familial, MIM# 142680",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:16:37.188662+11:00",
"panel_name": "Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS",
"panel_id": 238,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNFRSF1A were changed from to Periodic fever, familial, MIM# 142680",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:15:57.269856+11:00",
"panel_name": "Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS",
"panel_id": 238,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNFRSF1A were set to ",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:13:40.323201+11:00",
"panel_name": "Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS",
"panel_id": 238,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNFRSF1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:10:34.564216+11:00",
"panel_name": "Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS",
"panel_id": 238,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNFRSF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:09:09.692493+11:00",
"panel_name": "Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS",
"panel_id": 238,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNFRSF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 10199409; Phenotypes: Periodic fever, familial, MIM# 142680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:06:12.942674+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNFRSF1A as ready",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:06:12.936059+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfrsf1a has been classified as Green List (High Evidence).",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:06:03.994134+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNFRSF1A were changed from to Periodic fever, familial, MIM# 142680",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:05:49.066935+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNFRSF1A were set to ",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:05:34.803800+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNFRSF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2020-01-07T14:05:11.384695+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNFRSF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 10199409; Phenotypes: Periodic fever, familial, MIM# 142680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2020-01-07T13:42:43.658637+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.32",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: RHOA was added\ngene: RHOA was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Literature\nMode of inheritance for gene: RHOA was set to Other\nPublications for gene: RHOA were set to 31570889\nPhenotypes for gene: RHOA were set to normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia\nPenetrance for gene: RHOA were set to Complete\nReview for gene: RHOA was set to GREEN\ngene: RHOA was marked as current diagnostic\nAdded comment: mosaic heterozygous variants causing dysmorphism, brain MRI changes, normal cognition, eye and acral anomalies \nSources: Literature",
"entity_name": "RHOA",
"entity_type": "gene"
},
{
"created": "2020-01-07T12:23:32.904472+11:00",
"panel_name": "Dilated cardiomyopathy_VCGS",
"panel_id": 95,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMNA as ready",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-01-07T12:23:32.899242+11:00",
"panel_name": "Dilated cardiomyopathy_VCGS",
"panel_id": 95,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Heterozygous variants linked to DCM.",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-01-07T12:23:32.855744+11:00",
"panel_name": "Dilated cardiomyopathy_VCGS",
"panel_id": 95,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmna has been classified as Green List (High Evidence).",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-01-07T12:23:02.476464+11:00",
"panel_name": "Dilated cardiomyopathy_VCGS",
"panel_id": 95,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: LMNA was changed from to None",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-01-07T12:19:47.579943+11:00",
"panel_name": "Dilated cardiomyopathy_VCGS",
"panel_id": 95,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMNA were changed from to Dilated cardiomyopathy",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-01-07T12:18:56.563945+11:00",
"panel_name": "Dilated cardiomyopathy_VCGS",
"panel_id": 95,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMNA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-01-07T12:14:33.919305+11:00",
"panel_name": "Dilated cardiomyopathy_VCGS",
"panel_id": 95,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMNA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:58:12.159816+11:00",
"panel_name": "Dilated cardiomyopathy_VCGS",
"panel_id": 95,
"panel_version": "0.0",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 17377071; Phenotypes: Dilated cardiomyopathy, Charcot-Marie-Tooth disease, type 2B1, Emery-Dreifuss muscular dystrophy 2, Emery-Dreifuss muscular dystrophy 3, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford, Lipodystrophy, familial partial, type 2, Malouf syndrome, Mandibuloacral dysplasia, congenital muscular dystrophy, lethal restrictive dermopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:20:48.665012+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEPT9 as ready",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:20:48.653714+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sept9 has been classified as Green List (High Evidence).",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:20:38.965900+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEPT9 were changed from to Amyotrophy, hereditary neuralgic, MIM# 162100",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:20:10.316911+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEPT9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophy, hereditary neuralgic, MIM# 162100; Mode of inheritance: None",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:16:45.304718+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUS10 as ready",
"entity_name": "PUS10",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:16:45.299391+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agree, no evidence for Mendelian gene-disease association.",
"entity_name": "PUS10",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:16:45.256450+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus10 has been classified as Red List (Low Evidence).",
"entity_name": "PUS10",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:16:23.584883+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PUS10 as Red List (low evidence)",
"entity_name": "PUS10",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:16:23.573007+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus10 has been classified as Red List (Low Evidence).",
"entity_name": "PUS10",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:14:43.656499+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.691",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PUS10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "PUS10",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:07:07.233894+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDFY3 as ready",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:07:07.221550+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdfy3 has been classified as Green List (High Evidence).",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:06:59.140197+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDFY3 were changed from to Microcephaly 18, primary, autosomal dominant, MIM#617520",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:06:27.485149+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDFY3 were set to 31327001; 27008544",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:05:58.795499+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDFY3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:05:30.571540+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDFY3 were set to ",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:05:02.499767+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDFY3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:03:29.258239+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDFY3 as ready",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:03:29.245195+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdfy3 has been classified as Green List (High Evidence).",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:02:20.955927+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDFY3 were changed from to Microcephaly 18, primary, autosomal dominant, MIM#617520",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:02:02.420265+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDFY3 were set to ",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2020-01-07T10:01:26.208714+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDFY3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:17:35.615980+11:00",
"panel_name": "Macrocephaly/Megalencephaly_VCGS",
"panel_id": 135,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNMT3A as ready",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:17:35.604746+11:00",
"panel_name": "Macrocephaly/Megalencephaly_VCGS",
"panel_id": 135,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnmt3a has been classified as Green List (High Evidence).",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:17:32.063564+11:00",
"panel_name": "Macrocephaly/Megalencephaly_VCGS",
"panel_id": 135,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT3A were changed from to Tatton-Brown-Rahman syndrome, OMIM# 615879",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:16:52.965338+11:00",
"panel_name": "Macrocephaly/Megalencephaly_VCGS",
"panel_id": 135,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNMT3A were set to ",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:16:21.870366+11:00",
"panel_name": "Macrocephaly/Megalencephaly_VCGS",
"panel_id": 135,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNMT3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:15:43.433709+11:00",
"panel_name": "Macrocephaly/Megalencephaly_VCGS",
"panel_id": 135,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614070; Phenotypes: Tatton-Brown-Rahman syndrome, OMIM# 615879; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNMT3A",
"entity_type": "gene"
}
]
}