HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1941",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1939",
"results": [
{
"created": "2020-02-05T08:31:13.176064+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperekplexia 1, MIM# 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GLRA1",
"entity_type": "gene"
},
{
"created": "2020-02-05T08:24:30.684331+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GJB1: Added comment: PMID 26385972 reports cognitive impairment in 4 adult cases and PMID 23279342 reports a proband and her sister with severe neuropathy and subclinical cognitive impairment, while the proband's brother showed severe cognitive impairment and mild neuropathy. Based on the current evidence, ID does not appear to be a prominent or consistent part of the phenotype of this neuropathy.; Changed publications: 26385972, 23279342",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2020-02-04T20:52:09.714222+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GEMIN4 as ready",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2020-02-04T20:52:09.703447+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gemin4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2020-02-04T20:51:23.060507+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GEMIN4 were changed from to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2020-02-04T20:50:55.973213+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GEMIN4 were set to ",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2020-02-04T20:50:29.032929+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GEMIN4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2020-02-04T20:50:01.288091+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GEMIN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2020-02-04T20:49:33.293257+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GEMIN4 as Amber List (moderate evidence)",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2020-02-04T20:49:33.282492+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gemin4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2020-02-04T20:48:53.282869+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GEMIN4: Rating: AMBER; Mode of pathogenicity: None; Publications: 25558065, 30237576; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:49:04.023230+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBA as ready",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:49:04.012368+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gba has been classified as Amber List (Moderate Evidence).",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:48:49.548938+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GBA were changed from to Gaucher disease, type II 230900",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:48:13.842218+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:46:38.170751+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GBA as Amber List (moderate evidence)",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:46:38.160478+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gba has been classified as Amber List (Moderate Evidence).",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:45:58.899039+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, type II 230900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:17:34.515479+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAN as ready",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:17:34.505112+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gan has been classified as Red List (Low Evidence).",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:17:20.250446+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAN were changed from to Giant axonal neuropathy-1, MIM# 256850",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:16:39.053137+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GAN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:16:02.532920+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAN as Red List (low evidence)",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:16:02.522256+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gan has been classified as Red List (Low Evidence).",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:15:24.756383+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GAN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Giant axonal neuropathy-1, MIM# 256850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:09:53.572173+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRA2 as ready",
"entity_name": "GABRA2",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:09:53.561530+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra2 has been classified as Green List (High Evidence).",
"entity_name": "GABRA2",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:09:43.083820+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRA2 as Green List (high evidence)",
"entity_name": "GABRA2",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:09:43.060058+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra2 has been classified as Green List (High Evidence).",
"entity_name": "GABRA2",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:08:44.320927+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GABRA2 was added\ngene: GABRA2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: GABRA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRA2 were set to 29422393; 29961870; 31032849; 31032848\nPhenotypes for gene: GABRA2 were set to Epileptic encephalopathy, early infantile, 78, 618557\nReview for gene: GABRA2 was set to GREEN\ngene: GABRA2 was marked as current diagnostic\nAdded comment: Six unrelated families reported, ID is part of the phenotype. \nSources: Expert list",
"entity_name": "GABRA2",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:03:57.848157+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABBR2 as ready",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:03:57.836385+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabbr2 has been classified as Green List (High Evidence).",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:03:45.158618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABBR2 as ready",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:03:45.147833+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabbr2 has been classified as Green List (High Evidence).",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:03:31.013831+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABBR2 were changed from to Neurodevelopmental disorder with poor language and loss of hand skills, 617903",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:03:13.145907+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GABBR2 were set to ",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:02:56.687591+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GABBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:02:34.596866+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GABBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083, 28061363, 28135719, 28856709, 29369404, 29377213; Phenotypes: Neurodevelopmental disorder with poor language and loss of hand skills, 617903; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:00:59.573812+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABBR2 as Green List (high evidence)",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:00:59.550020+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabbr2 has been classified as Green List (High Evidence).",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-02-04T19:00:11.353268+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GABBR2 was added\ngene: GABBR2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABBR2 were set to 29100083; 28061363; 28135719; 28856709; 29369404; 29377213\nPhenotypes for gene: GABBR2 were set to Neurodevelopmental disorder with poor language and loss of hand skills, 617903\nReview for gene: GABBR2 was set to GREEN\ngene: GABBR2 was marked as current diagnostic\nAdded comment: At least 7 unrelated individuals reported, missense variants only, A707T and A567T (recurrent). \nSources: Expert list",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:31:47.582002+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPU were changed from to Epileptic encephalopathy, early infantile, 54, MIM#617391",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:31:13.248944+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNRNPU were set to ",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:30:27.211758+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPU as ready",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:30:27.201348+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpu has been classified as Green List (High Evidence).",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:30:25.287783+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNRNPU was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:30:00.631475+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPU were changed from to Epileptic encephalopathy, early infantile, 54, MIM#617391",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:29:36.920136+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: None; Publications: 28944577, 28393272; Phenotypes: Epileptic encephalopathy, early infantile, 54, MIM#617391; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:29:25.959943+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNRNPU were set to Epileptic encephalopathy, early infantile, 54, MIM#617391",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:28:16.481539+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNRNPU were set to ",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:27:38.785090+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNRNPU was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:27:00.415930+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: None; Publications: Epileptic encephalopathy, early infantile, 54, MIM#617391; Phenotypes: 28944577, 28393272; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:25:58.096172+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPU as ready",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:25:58.085566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpu has been classified as Green List (High Evidence).",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:25:24.977698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINI1 as ready",
"entity_name": "SERPINI1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:25:24.959201+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpini1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINI1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:25:12.414326+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINI1 were set to ",
"entity_name": "SERPINI1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:24:42.775882+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPU were changed from to Epileptic encephalopathy, early infantile, 54, MIM#617391",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:24:07.806374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNRNPU were set to ",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:23:33.315620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNRNPU was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:20:25.686600+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINI1 were changed from to Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218",
"entity_name": "SERPINI1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:19:36.527004+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINI1 as ready",
"entity_name": "SERPINI1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:19:36.516219+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpini1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINI1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:18:53.804953+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SERPINI1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:18:46.989711+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINI1 were changed from to Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218",
"entity_name": "SERPINI1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:18:25.773195+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SERPINI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28631894, 25401298, 12103288; Phenotypes: Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SERPINI1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:17:43.047716+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINI1 were set to ",
"entity_name": "SERPINI1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:17:05.133844+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SERPINI1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:16:24.524184+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SERPINI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28631894, 25401298, 12103288; Phenotypes: Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218; Mode of inheritance: None",
"entity_name": "SERPINI1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:14:47.504425+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINI1 as ready",
"entity_name": "SERPINI1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:14:47.493462+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpini1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINI1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:13:39.311767+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SERPINI1 as Green List (high evidence)",
"entity_name": "SERPINI1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:13:39.301408+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpini1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINI1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:12:47.165040+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEU1 as ready",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:12:47.153193+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: neu1 has been classified as Green List (High Evidence).",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:11:02.826981+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEU1 as Green List (high evidence)",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:11:02.802814+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: neu1 has been classified as Green List (High Evidence).",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:10:11.488633+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CERS1 as ready",
"entity_name": "CERS1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:10:11.478124+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cers1 has been classified as Green List (High Evidence).",
"entity_name": "CERS1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:09:50.180252+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CERS1 as Green List (high evidence)",
"entity_name": "CERS1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:09:50.155944+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cers1 has been classified as Green List (High Evidence).",
"entity_name": "CERS1",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:02:48.008477+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC7A as ready",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:02:47.994937+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc7a has been classified as Green List (High Evidence).",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:00:38.396981+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:GATA2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-04T18:00:34.117480+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.80",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:FOXC2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-04T18:00:28.820573+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.79",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:FLT4 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-04T18:00:23.301037+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.78",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:FAT4 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-04T18:00:19.881219+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC7A were changed from to Gastrointestinal defects and immunodeficiency syndrome, 243150",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2020-02-04T18:00:18.036829+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.77",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:EIF2AK4 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-04T18:00:09.205720+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:CCBE1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-04T18:00:02.912665+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.75",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:CAV1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-04T17:59:55.912325+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.74",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:BMPR2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-04T17:59:42.707338+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC7A were set to ",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2020-02-04T17:58:17.533827+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.73",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:GJC2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-04T17:57:54.235112+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.72",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:KCNK3 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-04T17:57:38.411352+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AFG3L2 as ready",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-02-04T17:57:38.406332+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: The two families reported with ballelic variants appear distantly related. One family with mono-allelic variant.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-02-04T17:57:38.367457+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: afg3l2 has been classified as Red List (Low Evidence).",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-02-04T17:57:37.838857+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.71",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:KIF11 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-04T17:57:07.824721+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.70",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:PIEZO1 from the panel",
"entity_name": null,
"entity_type": null
}
]
}