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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1465",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1463",
"results": [
{
"created": "2020-12-23T18:59:13.723818+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VEGFC were set to ",
"entity_name": "VEGFC",
"entity_type": "gene"
},
{
"created": "2020-12-23T18:58:45.543251+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VEGFC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VEGFC",
"entity_type": "gene"
},
{
"created": "2020-12-23T18:58:04.146159+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP1A2 as ready",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-12-23T18:58:04.135717+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-12-23T18:57:57.389680+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A2 were changed from to Alternating hemiplegia of childhood 1, MIM# 104290",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-12-23T18:57:23.695352+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP1A2 were set to ",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-12-23T18:56:52.096725+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-12-23T18:56:16.032234+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15174025, 15286158, 33126486, 31766058, 24097848; Phenotypes: Alternating hemiplegia of childhood 1, MIM# 104290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-12-23T16:06:55.165818+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5778",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: VEGFC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23410910, 24744435, 30071673; Phenotypes: Lymphatic malformation 4, MIM#615907; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "VEGFC",
"entity_type": "gene"
},
{
"created": "2020-12-23T14:05:48.608345+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDELR2 were changed from Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms to Osteogenesis imperfecta 21, MIM#\t619131; Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms",
"entity_name": "KDELR2",
"entity_type": "gene"
},
{
"created": "2020-12-23T14:05:08.818586+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KDELR2: Changed phenotypes: Osteogenesis imperfecta 21, MIM# 619131, Increased susceptibility to fractures, joint hypermobility, Scoliosis, Bowing of the legs, Bowing of the arms",
"entity_name": "KDELR2",
"entity_type": "gene"
},
{
"created": "2020-12-23T14:04:40.176726+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDELR2 were changed from Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms to Osteogenesis imperfecta 21, MIM#\t619131; Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms",
"entity_name": "KDELR2",
"entity_type": "gene"
},
{
"created": "2020-12-23T14:04:13.994872+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KDELR2: Changed phenotypes: Osteogenesis imperfecta 21, MIM# 619131, Increased susceptibility to fractures, joint hypermobility, Scoliosis, Bowing of the legs, Bowing of the arms",
"entity_name": "KDELR2",
"entity_type": "gene"
},
{
"created": "2020-12-23T14:02:40.756443+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAD1 were changed from Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy to Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy 89, MIM# 619124",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2020-12-23T14:02:00.542918+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GAD1: Changed phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513, Developmental and epileptic encephalopathy 89, MIM# 619124",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2020-12-23T14:00:57.331350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAD1 were changed from Cerebral palsy, spastic quadriplegic, 1, MIM#603513 to Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy 89, MIM# 619124",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2020-12-23T14:00:31.412077+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GAD1: Changed phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513, Developmental and epileptic encephalopathy 89, MIM# 619124",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2020-12-23T13:59:43.694058+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAD1 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 89, MIM# 619124",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2020-12-23T13:59:06.824615+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GAD1: Changed phenotypes: Developmental and epileptic encephalopathy 89, MIM# 619124",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2020-12-23T13:57:09.318403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TET2 were changed from Dementia; Lymphoma/myeloid malignancy; Immunodeficiency to Dementia; Lymphoma/myeloid malignancy; Immunodeficiency-75 (IMD75), MIM#619126",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-12-23T13:56:43.998574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TET2: Changed phenotypes: Dementia, Lymphoma/myeloid malignancy, Immunodeficiency-75 (IMD75), MIM#619126",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-12-23T13:56:17.390259+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TET2 were changed from Immune dysregulation; Lymphoma to Immune dysregulation; Lymphoma; Immunodeficiency-75 (IMD75), MIM#619126",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-12-23T13:55:38.079628+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TET2: Changed phenotypes: Immune dysregulation, Lymphoma, Immunodeficiency-75 (IMD75), MIM#619126",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-12-23T11:47:26.270466+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5775",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16010675, 15942875; Phenotypes: Sotos syndrome 1 (MIM#117550), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2020-12-22T20:07:16.449099+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TREM2 as ready",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-12-22T20:07:16.440454+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trem2 has been classified as Green List (High Evidence).",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-12-22T20:06:55.686976+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TREM2 as Green List (high evidence)",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-12-22T20:06:55.674642+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trem2 has been classified as Green List (High Evidence).",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-12-22T20:06:22.101255+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TREM2 was added\ngene: TREM2 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TREM2 were set to 12080485; 15883308\nPhenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM#\t618193\nReview for gene: TREM2 was set to GREEN\nAdded comment: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2 (PLOSL2), or Nasu-Hakola disease, is a recessively inherited presenile frontal dementia with leukoencephalopathy and basal ganglia calcification. In most cases the disorder first manifests in early adulthood as pain and swelling in ankles and feet, followed by bone fractures. Neurologic symptoms manifest in the fourth decade of life as a frontal lobe syndrome with loss of judgment, euphoria, and disinhibition. Progressive decline in other cognitive domains begins to develop at about the same time. The disorder culminates in a profound dementia and death by age 50 years. More than 5 unrelated families reported. \nSources: Expert list",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-12-22T20:00:26.070529+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-12-22T19:57:11.099634+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A1 as ready",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-12-22T19:57:11.088427+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Green List (High Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:51:40.818891+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from to Brain small vessel disease with or without ocular anomalies, MIM# 175780",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:51:12.923875+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:50:41.586269+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease with or without ocular anomalies, MIM# 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:25:13.051939+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2B as ready",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:25:13.040169+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2b has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:25:05.293422+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNASEH2B were changed from to Aicardi-Goutieres syndrome 2, MIM# 610181",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:24:47.078871+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNASEH2B were set to ",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:24:29.288327+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNASEH2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:24:12.211963+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16845400, 33307271, 29239743; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:22:20.876346+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2B as ready",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:22:20.865746+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2b has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:22:12.544366+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNASEH2B were changed from to Aicardi-Goutieres syndrome 2, MIM# 610181",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:21:50.678964+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNASEH2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:21:11.759146+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNASEH2B were set to ",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:20:04.485380+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16845400, 33307271, 29239743; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:17:13.260157+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2A as ready",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:17:13.248122+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2a has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:17:09.568279+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNASEH2A were changed from to Aicardi-Goutieres syndrome 4, MIM# 610333",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:16:44.612105+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNASEH2A were set to ",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:16:13.271161+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNASEH2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:15:41.940099+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 17846997, 16845400, 23592335, 27643693; Phenotypes: Aicardi-Goutieres syndrome 4, MIM# 610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:12:05.205322+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDGFRB as ready",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:12:05.193581+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdgfrb has been classified as Green List (High Evidence).",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:12:02.254909+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDGFRB were changed from to Basal ganglia calcification, idiopathic, 4, MIM# 615007",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:11:31.924186+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDGFRB were set to ",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:11:01.441254+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:10:29.484829+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31004414, 30979360, 32613555; Phenotypes: Basal ganglia calcification, idiopathic, 4, MIM# 615007; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:05:45.585393+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some individuals are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive. Multiple families reported.",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:05:33.737641+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDGFB as ready",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:05:33.730192+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdgfb has been classified as Green List (High Evidence).",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:05:31.305592+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDGFB were changed from to Basal ganglia calcification, idiopathic, 5 , MIM#615483",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:04:52.553993+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDGFB as ready",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:04:52.543454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdgfb has been classified as Green List (High Evidence).",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:04:45.654241+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDGFB were changed from to Basal ganglia calcification, idiopathic, 5 , MIM#615483",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:04:27.357258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDGFB were set to ",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:04:08.345047+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDGFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:03:50.947960+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913003, 30952898, 30609140; Phenotypes: Basal ganglia calcification, idiopathic, 5 , MIM#615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:03:34.773110+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDGFB were set to ",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:03:00.899243+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDGFB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:02:17.462473+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDGFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-12-22T18:01:39.250031+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913003, 30952898, 30609140; Phenotypes: Basal ganglia calcification, idiopathic, 5 , MIM#615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:44:29.142195+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2C as ready",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:44:29.132442+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2c has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:44:25.424946+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNASEH2C were changed from to Aicardi-Goutieres syndrome 3, MIM# 610329",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:43:51.818881+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNASEH2C were set to ",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:43:17.069848+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNASEH2C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:42:43.984646+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 16845400, 29239743, 29150899, 27643693; Phenotypes: Aicardi-Goutieres syndrome 3, MIM# 610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:39:34.497512+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAMHD1 as ready",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:39:34.486954+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samhd1 has been classified as Green List (High Evidence).",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:39:31.943550+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SAMHD1 were changed from to Aicardi-Goutieres syndrome 5, MIM# 612952",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:38:59.574847+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SAMHD1 were set to ",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:38:28.358154+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SAMHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:37:55.080486+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19525956, 21102625, 33307271; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:34:45.368003+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TREX1 as ready",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:34:45.360126+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trex1 has been classified as Green List (High Evidence).",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:34:41.102647+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:34:09.377253+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TREX1 were set to ",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:33:39.455269+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TREX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:33:05.109653+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17846997; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:31:16.718242+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC8 as ready",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:31:16.701433+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc8 has been classified as Green List (High Evidence).",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:31:09.930353+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC8 were changed from to Cockayne syndrome, type A, MIM# 216400",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:30:38.749500+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC8 were set to ",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:30:06.761237+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2020-12-22T17:29:32.028856+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26204423; Phenotypes: Cockayne syndrome, type A, MIM# 216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:28:24.886285+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYO9A as ready",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:28:24.874676+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo9a has been classified as Green List (High Evidence).",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:28:21.392115+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYO9A as Green List (high evidence)",
"entity_name": "MYO9A",
"entity_type": "gene"
}
]
}