HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=455",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=453",
"results": [
{
"created": "2024-05-16T14:45:14.695676+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCORL1 as ready",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2024-05-16T14:45:14.684654+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcorl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2024-05-16T14:45:09.525127+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCORL1 as Amber List (moderate evidence)",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2024-05-16T14:45:09.514517+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcorl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2024-05-16T14:44:58.470801+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCORL1 was added\ngene: BCORL1 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: BCORL1 were set to Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related\nReview for gene: BCORL1 was set to AMBER\nAdded comment: Emerging evidence of disease association. \nSources: Expert Review",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:59:39.314249+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A1 as ready",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:59:39.297920+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:59:35.344540+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A1 were changed from to GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:58:46.335185+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC2A1 were set to ",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:57:58.338771+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC2A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:56:52.363805+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A1 as ready",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:56:52.341765+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:56:39.160868+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A1 were changed from to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:55:54.140148+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A1 were set to ",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:55:10.533366+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:54:11.169337+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:52:30.225767+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHROOM4 were changed from Stocco dos Santos X-linked mental retardation syndrome, 300434; Intellectual disability to Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719; epilepsy, idiopathic generalised, SHROOM4-related, MONDO:0005579",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:51:49.042618+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHROOM4 as ready",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:51:49.025159+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shroom4 has been classified as Green List (High Evidence).",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:50:21.170948+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETBP1 as ready",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:50:21.155475+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setbp1 has been classified as Green List (High Evidence).",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:49:52.048454+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETBP1 were changed from to Schinzel-Giedion midface retraction syndrome, MIM# 269150; Intellectual disability, autosomal dominant 29, MIM# 616078",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:48:55.802150+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETBP1 were set to ",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:48:12.965823+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:47:12.125445+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEPSECS as ready",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:47:12.112191+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sepsecs has been classified as Green List (High Evidence).",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:47:03.130838+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEPSECS were changed from to Pontocerebellar hypoplasia type 2D, MIM# 613811",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:46:12.470149+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEPSECS were set to ",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:45:18.921019+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:44:38.167605+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures. At least 5 unrelated families reported.; to: PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound ID, spasticity, and variable seizures. At least 5 unrelated families reported.",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:44:07.422134+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCO2 as ready",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:44:07.412933+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sco2 has been classified as Green List (High Evidence).",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:44:00.873687+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCO2 were changed from to Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:01:08.130718+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2024-05-16T12:00:12.043134+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545952, 10749987, 18924171; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2024-05-16T11:56:33.987550+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN2A as ready",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-05-16T11:56:33.978288+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn2a has been classified as Green List (High Evidence).",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-05-16T11:56:28.584560+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN2A were changed from to Seizures, benign familial infantile, 3, MIM# 607745; Developmental and epileptic encephalopathy 11, MIM# 613721",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-05-16T11:55:40.314072+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN2A were set to ",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-05-16T11:55:00.830901+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-05-16T11:54:17.394390+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia. Rather than being discrete disorders, these probably represent a continuum of manifestations of a single brain channelopathy disorder.\r\n\r\nMultiple families reported.; to: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including DEE. Rather than being discrete disorders, these probably represent a continuum of manifestations of a single brain channelopathy disorder.\r\n\r\nMultiple families reported.",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-05-16T10:56:48.259518+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.64",
"user_name": "sailajah vishwanathan",
"item_type": "entity",
"text": "reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PubMed: 17847012, PubMed: 25809939, PubMed: 20635367, PubMed: 7607232; Phenotypes: pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2024-05-15T15:33:19.152308+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added Panel Speech apraxia",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-05-15T14:29:30.519289+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAMHD1 as ready",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:29:30.502377+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2701",
"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": "2024-05-15T14:29:24.460877+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2701",
"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": "2024-05-15T14:26:26.610828+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SAMHD1 were set to ",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:25:40.920977+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2699",
"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": "2024-05-15T14:24:15.090889+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTTN as ready",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:24:15.072553+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rttn has been classified as Green List (High Evidence).",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:24:05.489984+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RTTN were changed from to Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:18:38.652259+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RTTN were set to ",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:17:52.457281+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RTTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:17:11.616991+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:16:22.615240+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTN4IP1 as ready",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:16:22.602339+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtn4ip1 has been classified as Green List (High Evidence).",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:15:41.082307+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RTN4IP1 were changed from to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:14:28.986435+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RTN4IP1 were set to ",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:13:09.191063+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:12:01.355666+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRM2B as ready",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:12:01.340849+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rrm2b has been classified as Green List (High Evidence).",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:11:34.094498+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRM2B were changed from to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:10:09.396575+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RRM2B were set to ",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:09:26.110879+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RRM2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:08:39.737258+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:08:03.767746+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU4ATAC as ready",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:08:03.752189+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu4atac has been classified as Green List (High Evidence).",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:07:37.488486+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from to Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:06:43.847822+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU4ATAC were set to ",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:04:57.278509+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNU4ATAC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:04:15.275729+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU4ATAC: Changed phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I, MIM# 210710, Lowry-Wood syndrome, MIM# 226960",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:04:03.878074+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Lowry-Wood syndrome (LWS) is characterized by multiple epiphyseal dysplasia and microcephaly. Patients exhibit intrauterine growth retardation and short stature, as well as developmental delay and intellectual disability. Retinal degeneration has been reported in some patients.\r\n\r\nFour unrelated families reported.\r\n\r\nNote features between the three RNU4ATAC-related conditions overlap and they may not represent distinct disorders.; to: Lowry-Wood syndrome (LWS) is characterized by multiple epiphyseal dysplasia and microcephaly. Patients exhibit intrauterine growth retardation and short stature, as well as developmental delay and intellectual disability. Retinal degeneration has been reported in some patients.\r\n\r\nFour unrelated families reported.\r\n\r\nNote features between the three RNU4ATAC-related conditions overlap and they may not represent distinct disorders.\r\n\r\nSeizures reported with the Microcephalic osteodysplastic primordial dwarfism, type I, MIM# 210710 phenotype.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:01:57.604033+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASET2 as ready",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:01:57.593109+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaset2 has been classified as Green List (High Evidence).",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:01:53.968728+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNASET2 were changed from to Leukoencephalopathy, cystic, without megalencephaly MIM#612951",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:01:15.637275+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNASET2 were set to ",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2024-05-15T14:00:36.510084+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNASET2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:59:42.632536+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2C as ready",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:59:42.609894+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2683",
"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": "2024-05-15T13:59:37.770938+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2683",
"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": "2024-05-15T13:58:54.541073+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNASEH2C were set to ",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:57:19.231569+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2681",
"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": "2024-05-15T13:56:27.772256+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2B as ready",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:56:27.749036+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2680",
"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": "2024-05-15T13:54:40.616775+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2680",
"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": "2024-05-15T13:53:58.446017+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNASEH2B were set to ",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:52:39.084202+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2678",
"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": "2024-05-15T13:51:28.042122+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2A as ready",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:51:28.029364+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2677",
"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": "2024-05-15T13:49:24.469090+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2A as ready",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:49:24.453097+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2677",
"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": "2024-05-15T13:47:34.848749+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2677",
"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": "2024-05-15T13:46:48.479106+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNASEH2A were set to ",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:45:12.995885+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2675",
"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": "2024-05-15T13:43:47.140036+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMT1 as ready",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:43:47.124505+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomt1 has been classified as Green List (High Evidence).",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:43:43.887737+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:42:39.094100+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:41:11.411041+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POMT1: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:41:03.236831+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Seizures are part of the more severe end of the phenotype.",
"entity_name": "POMT1",
"entity_type": "gene"
}
]
}