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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=501",
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"results": [
{
"created": "2024-01-03T16:35:31.278401+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAA10 were set to 11426460",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:34:23.708885+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAA10 as Green List (high evidence)",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:34:23.699925+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa10 has been classified as Green List (High Evidence).",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:32:17.903581+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LSS as ready",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:32:17.890632+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lss has been classified as Green List (High Evidence).",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:31:45.962186+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LSS as Green List (high evidence)",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:31:45.950182+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lss has been classified as Green List (High Evidence).",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:30:49.130769+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS6KA3 as ready",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:30:49.108866+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps6ka3 has been classified as Green List (High Evidence).",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:30:41.829895+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPS6KA3 as Green List (high evidence)",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:30:41.817725+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps6ka3 has been classified as Green List (High Evidence).",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:29:49.084309+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RERE as ready",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:29:49.075125+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rere has been classified as Green List (High Evidence).",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:29:42.168898+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RERE as Green List (high evidence)",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:29:42.157251+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rere has been classified as Green List (High Evidence).",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:28:40.255549+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: RAPGEF2.",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:28:11.147214+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: RAPGEF2.",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:27:14.871238+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RANBP2 as ready",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:27:14.858331+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ranbp2 has been classified as Green List (High Evidence).",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:25:50.914610+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RANBP2 as Green List (high evidence)",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:25:50.904746+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ranbp2 has been classified as Green List (High Evidence).",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:24:54.328559+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTBP1 as ready",
"entity_name": "PTBP1",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:24:54.317699+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptbp1 has been classified as Red List (Low Evidence).",
"entity_name": "PTBP1",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:22:36.419221+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTBP1 as Red List (low evidence)",
"entity_name": "PTBP1",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:22:36.410385+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptbp1 has been classified as Red List (Low Evidence).",
"entity_name": "PTBP1",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:21:03.294118+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTBP1 as ready",
"entity_name": "PTBP1",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:21:03.273883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptbp1 has been classified as Red List (Low Evidence).",
"entity_name": "PTBP1",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:20:51.615987+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTBP1 as Red List (low evidence)",
"entity_name": "PTBP1",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:20:51.604549+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptbp1 has been classified as Red List (Low Evidence).",
"entity_name": "PTBP1",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:17:46.720732+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAI1 as ready",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:17:46.712270+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rai1 has been classified as Green List (High Evidence).",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:17:30.741355+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAI1 as Green List (high evidence)",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:17:30.731818+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rai1 has been classified as Green List (High Evidence).",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:16:36.513696+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB39B as ready",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:16:36.504525+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab39b has been classified as Green List (High Evidence).",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:16:07.961484+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAB39B as Green List (high evidence)",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:16:07.948979+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab39b has been classified as Green List (High Evidence).",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:15:17.390697+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC88C as ready",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:15:17.379634+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc88c has been classified as Green List (High Evidence).",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:15:09.318265+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC88C as Green List (high evidence)",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:15:09.310480+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc88c has been classified as Green List (High Evidence).",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:14:12.013704+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC22 as ready",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:14:12.004157+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc22 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:14:03.638773+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC22 as Red List (low evidence)",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:14:03.629838+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc22 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:12:20.643301+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COPB2 were set to 29036432",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2024-01-03T10:15:51.300651+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSHR were changed from Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200; HYPERTHYROIDISM, FAMILIAL GESTATIONAL HYPERTHYROIDISM to Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2024-01-03T10:15:15.640992+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSHR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2024-01-03T10:14:56.790715+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TSHR: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2024-01-02T17:40:15.245512+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2114",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "gene: PIGF was added\ngene: PIGF was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PIGF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGF were set to 33386993\nPhenotypes for gene: PIGF were set to Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM#619356\nReview for gene: PIGF was set to RED\nAdded comment: PMID: 33386993 (2021) - The same homozygous missense mutation (p.Pro172Arg) in 2x unrelated individuals affected with DOORS syndrome (without deafness). 1/2 presented with generalised tonic-clonic seizues and 1/2 with tonic posturing. \nSources: Literature",
"entity_name": "PIGF",
"entity_type": "gene"
},
{
"created": "2024-01-02T17:34:02.537569+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2114",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "gene: PEX26 was added\ngene: PEX26 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX26 were set to 34430430; 28823628\nPhenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger), MIM#614872\nReview for gene: PEX26 was set to AMBER\nAdded comment: PMID: 34430430 (2021) - Case report on 1 infant with a homozygous frameshift variant and Zellweger Syndrome diagnosis. Presented with an epileptic seizure at 8 months old and focal seizures during sleep, died at 9 months old. Also described a literature review resulting in 1/4 previously reported infants with Zellweger Syndrome presenting with seizures, described below.\r\n\r\nPMID: 28823628 (2017) - Case report on 1 infant with a homozygous missense variant and Zellweger Syndrome diagnosis. Developed tonic-clonic jerking of extremities.\r\n\r\nGeneReviews: Seizures can be a symptom of Zellweger Syndrome in newborns (caused by underlying neuronal migration defects). \nSources: Literature",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-01-02T17:29:51.665555+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2114",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "gene: PEX2 was added\ngene: PEX2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX2 were set to 14630978; 23430938; 17041890\nPhenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866\nReview for gene: PEX2 was set to AMBER\nAdded comment: PMID: 14630978 (2004) - 3 individuals with homozygous missense mutations and diagnosed with Zellweger syndrome. 1/3 presented with generalised seizures for which treatment was not effective. 2/3 had no seizures.\r\n\r\nPMID: 23430938 (2012) - 1 individual with compound heterozygous nonsense mutations affected with mild Zellweger Syndrome, did not present with seizures.\r\n\r\nPMID: 17041890 (2006) - 3/3 individuals with homozygous PEX2 nonsense/frameshift variants affected with Zellweger Syndrome. 2/3 presented with seizures, died at <6 months old. \r\n\r\nGeneReviews: Seizures can be a symptom of Zellweger Syndrome in newborns (caused by underlying neuronal migration defects). \nSources: Literature",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2023-12-29T18:22:14.410227+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PUS3 were changed from Mental retardation, autosomal recessive 55, MIM#\t617051 to Neurodevelopmental disorder with microcephaly and gray sclerae, MIM# 617051",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2023-12-29T18:21:36.478901+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PUS3: Changed phenotypes: Neurodevelopmental disorder with microcephaly and gray sclerae, MIM# 617051",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2023-12-29T18:21:12.017519+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PUS3 were changed from Mental retardation, autosomal recessive 55, MIM# 617051 to Neurodevelopmental disorder with microcephaly and gray sclerae, MIM# 617051",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2023-12-29T18:20:48.051192+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PUS3: Changed phenotypes: Neurodevelopmental disorder with microcephaly and gray sclerae, MIM# 617051",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2023-12-29T18:20:27.690880+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUS3 as ready",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2023-12-29T18:20:27.681748+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus3 has been classified as Green List (High Evidence).",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2023-12-29T18:20:24.565127+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PUS3 were changed from Mental retardation, autosomal recessive 55, MIM# 617051 to Neurodevelopmental disorder with microcephaly and gray sclerae, MIM#\t617051",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2023-12-29T18:19:35.534925+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PUS3 as Green List (high evidence)",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2023-12-29T18:19:35.523534+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus3 has been classified as Green List (High Evidence).",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2023-12-29T10:16:42.927676+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2112",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 37130971; Phenotypes: NAA10-related syndrome MONDO:0100124; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2023-12-29T09:45:08.062590+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2112",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: PMID: 30723320 - Cohort of 11 individuals from 7 unrelated families; all affected with alopecia, scaly skin, other ectodermal abnormalities, variable MRI abnormalities and neurological symptoms. All affected individuals (except 1x individual with a single missense variant and an allelic imbalance) were hom/compound het, whilst heterozygous carriers, for all the families, were asymptomatic. Epilepsy was reported in 7/11 individuals (Table 1). \r\n\r\nPMID: 37157980 - Four-year-old male with global developmental delay, epilepsy and striking alopecia; identified novel compound heterozygous LSS splice site (c.14+2T>C) and missense (c.1357 G>A; p.V453L) variants. Presented with myoclonic epilepsy at 14 months. \r\n\r\nNote: PanelApp UK has this gene rating as amber based on advice from Genomics England Clinical Team and West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. \nSources: Literature; to: PMID: 30723320 - Cohort of 11 individuals from 7 unrelated families; all affected with alopecia, scaly skin, other ectodermal abnormalities, variable MRI abnormalities and neurological symptoms. All affected individuals (except 1x individual with a single missense variant and an allelic imbalance) were hom/compound het, whilst heterozygous carriers, for all the families, were asymptomatic. Epilepsy was reported in 7/11 individuals (Table 1). \r\n\r\nPMID: 37157980 - Four-year-old male with global developmental delay, epilepsy and striking alopecia; identified novel compound heterozygous LSS splice site (c.14+2T>C) and missense (c.1357 G>A; p.V453L) variants. Presented with myoclonic epilepsy at 14 months. \r\n\r\nNote: PanelApp UK has this gene rating as amber based on advice from Genomics England Clinical Team and West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. \r\nSources: Literature",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2023-12-29T09:44:53.828744+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2112",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: LSS was added\ngene: LSS was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSS were set to PMID: 30723320; 37157980\nPhenotypes for gene: LSS were set to Alopecia-intellectual disability syndrome 4, MIM#618840\nReview for gene: LSS was set to GREEN\nAdded comment: PMID: 30723320 - Cohort of 11 individuals from 7 unrelated families; all affected with alopecia, scaly skin, other ectodermal abnormalities, variable MRI abnormalities and neurological symptoms. All affected individuals (except 1x individual with a single missense variant and an allelic imbalance) were hom/compound het, whilst heterozygous carriers, for all the families, were asymptomatic. Epilepsy was reported in 7/11 individuals (Table 1). \r\n\r\nPMID: 37157980 - Four-year-old male with global developmental delay, epilepsy and striking alopecia; identified novel compound heterozygous LSS splice site (c.14+2T>C) and missense (c.1357 G>A; p.V453L) variants. Presented with myoclonic epilepsy at 14 months. \r\n\r\nNote: PanelApp UK has this gene rating as amber based on advice from Genomics England Clinical Team and West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. \nSources: Literature",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2023-12-28T17:17:23.291468+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2112",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: RPS6KA3 was added\ngene: RPS6KA3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RPS6KA3 were set to 12210291; 6879200\nPhenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome MIM# 303600; Intellectual disability; short stature; delayed bone age; hearing deficit; hypotonia; tapering fingers; abnormal facies (hypertelorism, anteverted nares, prominent frontal region)\nReview for gene: RPS6KA3 was set to GREEN\ngene: RPS6KA3 was marked as current diagnostic\nAdded comment: Seizures is a feature in Coffin-Lowry syndrome individuals. \nSources: Literature",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2023-12-28T16:44:56.010305+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2112",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: RERE was added\ngene: RERE was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RERE were set to 30896913; 27087320; 23451234; 30558068\nPhenotypes for gene: RERE were set to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975\nReview for gene: RERE was set to GREEN\ngene: RERE was marked as current diagnostic\nAdded comment: Seizure is a feature \nSources: Literature",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2023-12-28T16:36:36.386858+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2112",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: RAPGEF2 was added\ngene: RAPGEF2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: RAPGEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAPGEF2 were set to 37021642; 30351492; 29507423\nPhenotypes for gene: RAPGEF2 were set to ?Epilepsy, familial adult myoclonic, 7 MIM# 618075\nReview for gene: RAPGEF2 was set to RED\nAdded comment: Heterozygous 5-bp repeat expansion (TTTCA(n)) in intron 14 of RAPGEF2 gene. Two individuals previously reported (PMID: 30351492 and 29507423) with seizures \nSources: Literature",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2023-12-28T16:35:21.743979+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1455",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: RAPGEF2 was added\ngene: RAPGEF2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RAPGEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAPGEF2 were set to 37021642; 30351492; 29507423\nPhenotypes for gene: RAPGEF2 were set to ?Epilepsy, familial adult myoclonic, 7 MIM# 618075\nReview for gene: RAPGEF2 was set to RED\nAdded comment: Heterozygous 5-bp repeat expansion (TTTCA(n)) in intron 14 of RAPGEF2 gene. Two individuals previously reported (PMID: 30351492 and 29507423) with seizures \nSources: Literature",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2023-12-28T16:10:04.214323+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2112",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: RANBP2 was added\ngene: RANBP2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RANBP2 were set to 32426208; 35485383; 33777149; 19118815; 25128471; 25522933; 32048120\nPhenotypes for gene: RANBP2 were set to {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033\nReview for gene: RANBP2 was set to GREEN\ngene: RANBP2 was marked as current diagnostic\nAdded comment: Individuals have seizures \nSources: Literature",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2023-12-28T13:34:33.571967+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2112",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: PTBP1 was added\ngene: PTBP1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PTBP1 was set to Unknown\nReview for gene: PTBP1 was set to RED\nAdded comment: No evidence for Mendelian disease association. In Oliver's Gene list. \nSources: Literature",
"entity_name": "PTBP1",
"entity_type": "gene"
},
{
"created": "2023-12-28T12:28:34.670763+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1455",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: PTBP1 was added\ngene: PTBP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PTBP1 was set to Unknown\nReview for gene: PTBP1 was set to RED\nAdded comment: No evidence for Mendelian disease association. \nSources: Literature",
"entity_name": "PTBP1",
"entity_type": "gene"
},
{
"created": "2023-12-28T12:15:36.753461+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2112",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: RAI1 was added\ngene: RAI1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAI1 were set to 36256819; 11404004; 12652298; 15788730\nPhenotypes for gene: RAI1 were set to Smith-Magenis syndrome MIM#182290\nReview for gene: RAI1 was set to GREEN\ngene: RAI1 was marked as current diagnostic\nAdded comment: PMID 36256819: Spontaneous seizures have been detected in 30% of Rai1−/− mice and SMS patients \r\n\r\nPMID: 16566870: Considering that close to one third of individuals with Smith-Magenis syndrome with epileptiform abnormalities also had a history of clinical seizures, cortical hyperexcitability and epilepsy should be considered an important component of the Smith-Magenis syndrome clinical phenotype. \nSources: Literature",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2023-12-28T11:49:34.844145+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2112",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: RAB39B was added\ngene: RAB39B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RAB39B were set to 4025396; 11050621; 20159109\nPhenotypes for gene: RAB39B were set to Intellectual developmental disorder, X-linked 72 MIM#300271; Waisman syndrome MIM#311510\nReview for gene: RAB39B was set to GREEN\nAdded comment: Seizures observed in most individuals. \nSources: Literature",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2023-12-28T08:59:02.468211+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2112",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: CCDC88C was added\ngene: CCDC88C was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC88C were set to PMID: 29341397, PMID: 23042809, PMID: 21031079\nPhenotypes for gene: CCDC88C were set to Hydrocephalus, congenital, 1\tMIM#236600\nReview for gene: CCDC88C was set to GREEN\nAdded comment: 3 independant families with seizures reported as a feature, onset between birth and 2 years. Focal and tonic clonic. Summary table in PMID: 29341397. \nSources: Expert list",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2023-12-28T08:47:11.289632+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2112",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: CCDC22 was added\ngene: CCDC22 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: CCDC22 were set to PMID: 34020006\nPhenotypes for gene: CCDC22 were set to Ritscher-Schinzel syndrome 2 MIM#300963\nReview for gene: CCDC22 was set to RED\nAdded comment: X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities\r\n\r\nReviewed as on a research epilepsy gene list \r\n\r\nPMID: 34020006 patient with epileptic encephalopathy but they had a missense variant VUS - segregated only in healthy mother and grandmother, no healthy males tested, maternal uncle deceased but wasn't tested. Didn't have the typical features of the condition (no posterior fossa anomalies or cardiac malformations). \nSources: Expert list",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2023-12-27T17:09:06.594565+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.246",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: This paper reports an unrelated individual with the same homozygous variant (NM_004766.3:c.760C>T, p.Arg254Cys) identified in 2xsiblings in PMID: 29036432 (the same two siblings are also described in PMID: 34450031).\r\n\r\nThe proband is an 8.5yo Iranian female born to consanguineous parents. This individual has symptoms consistent with autosomal recessive microcephaly 19 (MIM#617800) including, global developmental delay, intellectual disability, microcephaly, seizures, spasticity, strabismus, and failure to thrive symptoms; she is unable to stand, walk, or speak.; to: PMID: 37734708 - This paper reports an unrelated individual with the same homozygous variant (NM_004766.3:c.760C>T, p.Arg254Cys) identified in 2xsiblings in PMID: 29036432 (the same two siblings are also described in PMID: 34450031).\r\n\r\nThe proband is an 8.5yo Iranian female born to consanguineous parents. This individual has symptoms consistent with autosomal recessive microcephaly 19 (MIM#617800) including, global developmental delay, intellectual disability, microcephaly, seizures, spasticity, strabismus, and failure to thrive symptoms; she is unable to stand, walk, or speak.",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2023-12-27T17:08:25.040237+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.246",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: COPB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 37734708, 29036432, 34450031; Phenotypes: Microcephaly 19, primary, autosomal recessive, MIM# 617800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:55:59.454875+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2112",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: PUS3 was added\ngene: PUS3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PUS3 were set to 36125428; 30308082; 28454995; 27055666; 30697592; 31444731\nPhenotypes for gene: PUS3 were set to Mental retardation, autosomal recessive 55, MIM# 617051\nReview for gene: PUS3 was set to GREEN\ngene: PUS3 was marked as current diagnostic\nAdded comment: Most affected individuals have seizures; some may have brain imaging abnormalities \nSources: Literature",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:31:36.887824+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG8 were set to 26066342; 28375157; 15235028",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:30:58.045202+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG8 were set to 26066342",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:30:10.872707+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG8 were set to 26066342",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:28:49.363265+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OCRL as ready",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:28:49.343310+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ocrl has been classified as Red List (Low Evidence).",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:28:44.354844+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OCRL as Red List (low evidence)",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:28:44.343997+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ocrl has been classified as Red List (Low Evidence).",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:27:47.312591+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMTA1 as ready",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:27:47.304537+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camta1 has been classified as Red List (Low Evidence).",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:27:34.486033+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAMTA1 as Red List (low evidence)",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:27:34.477579+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camta1 has been classified as Red List (Low Evidence).",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:26:36.022284+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX5 as ready",
"entity_name": "SOX5",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:26:35.991655+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX5",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:26:30.693539+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX5 as Amber List (moderate evidence)",
"entity_name": "SOX5",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:26:30.680909+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX5",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:25:15.486615+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C19orf12 as ready",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:25:15.475444+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c19orf12 has been classified as Red List (Low Evidence).",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:25:10.182199+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C19orf12 as Red List (low evidence)",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:25:10.173530+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c19orf12 has been classified as Red List (Low Evidence).",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:23:51.543758+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE2A as ready",
"entity_name": "PDE2A",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:23:51.532368+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde2a has been classified as Green List (High Evidence).",
"entity_name": "PDE2A",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:23:44.877243+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDE2A as Green List (high evidence)",
"entity_name": "PDE2A",
"entity_type": "gene"
}
]
}