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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=505",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=503",
"results": [
{
"created": "2023-12-19T00:42:15.553426+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2055",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: CTU2 was added\ngene: CTU2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTU2 were set to PMID: 27480277; 33559988\nPhenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142\nReview for gene: CTU2 was set to GREEN\nAdded comment: PMID: 33559988 - 6 individuals from 5 different families (2 individuals previously reported in PMID 27480277) with DREAM-PL reported to have seizures. The age of onset ranges from birth to 9yo. \nSources: Literature",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:59:28.180486+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GMPPB as ready",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:59:28.167841+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmppb has been classified as Green List (High Evidence).",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:50:24.316462+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GMPPB as Green List (high evidence)",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:50:24.307386+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmppb has been classified as Green List (High Evidence).",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:49:10.464024+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GMPPB was added\ngene: GMPPB was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GMPPB were set to 30257713\nPhenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350\nReview for gene: GMPPB was set to GREEN\nAdded comment: Established gene-disease association, spectrum of severity. Seizures reported as part of the severe end of the spectrum. \nSources: Expert list",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:45:21.286584+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GMPPA as ready",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:45:21.271021+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmppa has been classified as Amber List (Moderate Evidence).",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:45:20.370142+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GMPPA as Amber List (moderate evidence)",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:45:20.353894+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmppa has been classified as Amber List (Moderate Evidence).",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:44:44.385647+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GMPPA as Amber List (moderate evidence)",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:44:44.372016+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmppa has been classified as Amber List (Moderate Evidence).",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:43:10.886287+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GMPPA was added\ngene: GMPPA was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GMPPA were set to 24035193; 28574218\nPhenotypes for gene: GMPPA were set to Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)\nReview for gene: GMPPA was set to AMBER\nAdded comment: 10 families reported, of which one had seizures. \nSources: Expert list",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:34:11.645609+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GABRA4 were set to 35152403",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:33:16.808596+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GABRA4: Changed publications: 35152403, 35781801",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:12:02.810078+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DARS2 were set to 17384640; 15002045; 16788019; 30352563",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:11:18.471776+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DARS2 as Amber List (moderate evidence)",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:11:18.462060+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dars2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:04:34.304721+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRADD as Green List (high evidence)",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:04:34.291940+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cradd has been classified as Green List (High Evidence).",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2023-12-18T18:03:49.712511+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRADD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly, MIM# 614499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2023-12-18T17:47:04.602355+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ISPD were set to ",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2023-12-18T17:46:09.159735+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ISPD as Green List (high evidence)",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2023-12-18T17:46:09.149383+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ispd has been classified as Green List (High Evidence).",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2023-12-18T17:42:06.762903+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTSF as ready",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2023-12-18T17:42:06.753681+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsf has been classified as Green List (High Evidence).",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:54:12.420941+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2045",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: CTSF were changed from Ceroid lipofuscinosis, neuronal, 13 (Kufs type) MIM#615362 to Ceroid lipofuscinosis, neuronal, 13 (Kufs type) MIM#615362",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:53:41.129148+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2044",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13 (Kufs type) MIM#615362",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:53:13.136178+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2044",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: CTSF as Green List (high evidence)",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:53:13.121934+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2044",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ctsf has been classified as Green List (High Evidence).",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:51:00.210127+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2043",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: CRADD as Amber List (moderate evidence)",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:51:00.170107+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2043",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cradd has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:50:29.639414+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2043",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: CSNK2A1 as Green List (high evidence)",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:50:29.624537+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2043",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: csnk2a1 has been classified as Green List (High Evidence).",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:49:08.832870+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2042",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: CSNK2A1 as Green List (high evidence)",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:49:08.823995+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2042",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: csnk2a1 has been classified as Green List (High Evidence).",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:48:41.766054+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2041",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: CSNK2A1 as ready",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:48:41.751832+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2041",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: csnk2a1 has been removed from the panel.",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:47:32.522470+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2041",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: CRADD as Amber List (moderate evidence)",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:47:32.508088+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2041",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cradd has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:47:09.575198+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2040",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: CRADD as ready",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:47:09.523917+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2040",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cradd has been removed from the panel.",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:45:06.692309+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2040",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: CPT2 as ready",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:45:06.668835+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2040",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cpt2 has been classified as Green List (High Evidence).",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:44:49.475827+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2040",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: CPT2 as Green List (high evidence)",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:44:49.461991+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2040",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cpt2 has been classified as Green List (High Evidence).",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:44:19.730817+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2040",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: CSF1R as Green List (high evidence)",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:44:19.698334+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2040",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: csf1r has been classified as Green List (High Evidence).",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:43:49.856566+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2039",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CSF1R was changed from None to None",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:43:20.852098+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2039",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: CSF1R as Green List (high evidence)",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:43:20.827497+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2039",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: csf1r has been classified as Green List (High Evidence).",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:42:56.834230+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2038",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: CSF1R as ready",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:42:56.823848+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2038",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: csf1r has been removed from the panel.",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2023-12-18T16:42:02.647453+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2038",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: CTSF was added\ngene: CTSF was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTSF were set to PMID: 23297359; 25274848; 27668283; 27524508; 35139754\nReview for gene: CTSF was set to GREEN\nAdded comment: PMID: 23297359 - Four affected individuals from three different families all with seizures of varying types and frequency (two in family Ku4, one in family Ku10, one in family Ku16).\r\n\r\nPMID: 25274848 - 5/6 affected individuals from a single family presented with tonic-clonic seizures as a first manifestation of their disease aged 21-66 years. All progressed to dementia. All were homozygous for c.213+1G>C.\r\n\r\nPMID: 27668283 - 1/4 affected siblings, presented with myoclonic seizures at 35yo.\r\n\r\nPMID: 27524508 - single report of 39yo female with chronic psychosis and new seizures. \nSources: Literature",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2023-12-18T15:36:18.076609+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2038",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: CSNK2A1 was added\ngene: CSNK2A1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CSNK2A1 were set to PMID: 35679446; 36588763\nPhenotypes for gene: CSNK2A1 were set to Okur-Chung neurodevelopmental syndrome, MIM# 617062\nReview for gene: CSNK2A1 was set to GREEN\nAdded comment: PMID 36588763 - Review of previously reported cases noted 9/31 (29%) individuals with Okur-Chung neurodevelopmental syndrome reported to have seizures.\r\n\r\nPMID: 35679446 - GeneReviews article includes seizures among the more common features of the disorder, present in 11/36 cases reported to date. No specific type of seizure has been noted. Intractable seizures are reported in some individuals while only one case status has been reported. \nSources: Literature",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2023-12-18T14:32:05.070514+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.37",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: FZD5 were changed from Coloboma to Coloboma (MONDO:0001476), FZD5-related",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2023-12-18T01:36:38.297806+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2038",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: CSF1R was added\ngene: CSF1R was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CSF1R was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: CSF1R were set to PMID: 22197934; 24336230; 30982608; 30982609\nPhenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis, (MIM#618476)\nReview for gene: CSF1R was set to GREEN\nAdded comment: Monoallelic disease is onset in 3rd or 4th decades whereas biallelic disease is associated with early-onset disease in infancy or childhood.\r\n\r\nMonoallelic association:\r\nPMID: 22197934 - 13/23 individuals from 9 different families reported to have seizures.\r\nPMID: 24336230 - 2/7 individuals with seizures reported from a Japanese cohort.\r\n\r\nBiallelic association:\r\nPMID: 30982608 - Two individuals with a seizure history. First was an infant who presented with prenatal structural brain abnormalities, including ACC, ventriculomegaly, and pontocerebellar hypoplasia, and died at 10 months had intractable epilepsy. Second individuals presented with generalized tonic-clonic seizures aged 12 years old associated with regression and loss of all skills.\r\n\r\nPMID: 30982609 - Two individuals with seizures were reported from a cohort of 7 individuals. A-III-1 was a male infant who developed seizures in early infancy (after 3 months of age). Individual C-III-4 was a male who developed focal seizures in early infancy. \nSources: Literature",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2023-12-18T01:09:28.622080+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2038",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24120487, 35863218; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2023-12-18T00:56:47.820328+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2038",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: CRADD was added\ngene: CRADD was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CRADD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRADD were set to PMID: 27773430; 30914828\nPhenotypes for gene: CRADD were set to Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly, MIM# 614499\nReview for gene: CRADD was set to AMBER\nAdded comment: PMID: 27773430 - 3/13 individuals with IDD34 were reported to have seizures.\r\n\r\nPMID: 30914828 - 2/22 individuals with a Finnish founder mutation were reported to have seizures \nSources: Literature",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2023-12-18T00:41:29.301132+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2038",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: CPT2 was added\ngene: CPT2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPT2 were set to PMID: 20301431; 35028265; 36478999\nPhenotypes for gene: CPT2 were set to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110\nReview for gene: CPT2 was set to GREEN\nAdded comment: GeneReviews quotes seizures as a core component of the phenotype in lethal neonatal and severe infantile forms of the disorder.\r\n\r\nPMID: 36478999 - single report of a 10yo male with CPT2 who developed focal seizures during an acute episode.\r\n\r\nPMID: 35028265 - single report of a male who presented at 5 months of age with infantile‐onset carnitine palmitoyltransferase 2 (CPT2) deficiency. He also had X‐linked nephrogenic diabetes insipidus. He developed focal seizures at 17yo. \nSources: Literature",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2023-12-18T00:12:56.700047+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2038",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34104671; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2023-12-17T13:31:39.480241+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRD4 were changed from Cornelia de Lange-like syndrome, MONDO:0016033 to Cornelia de Lange syndrome 6, MIM# 620568",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2023-12-17T13:31:07.642517+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BRD4: Changed phenotypes: Cornelia de Lange syndrome 6, MIM# 620568",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2023-12-17T13:30:47.452925+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRD4 were changed from Cornelia de Lange syndrome, MONDO:0016033 to Cornelia de Lange syndrome 6, MIM# 620568",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2023-12-17T13:30:27.411565+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BRD4: Changed phenotypes: Cornelia de Lange syndrome 6, MIM# 620568",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2023-12-17T13:30:10.370334+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRD4 were changed from Cornelia de Lange syndrome, MONDO:0016033 to Cornelia de Lange syndrome 6, MIM# 620568",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2023-12-17T13:29:35.438163+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BRD4: Changed phenotypes: Cornelia de Lange syndrome 6, MIM# 620568",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:36:50.731402+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG12 as ready",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:36:50.718329+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg12 has been classified as Red List (Low Evidence).",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:36:27.303287+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG12 as Red List (low evidence)",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:36:27.290508+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg12 has been classified as Red List (Low Evidence).",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:35:48.114494+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASXL3 as Green List (high evidence)",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:35:48.102711+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asxl3 has been classified as Green List (High Evidence).",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:35:27.267663+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASXL3 as ready",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:35:27.254475+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asxl3 has been classified as Green List (High Evidence).",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:35:18.176748+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASXL3 as Green List (high evidence)",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:35:18.163458+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asxl3 has been classified as Green List (High Evidence).",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:15:53.042872+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2036",
"user_name": "John Coleman",
"item_type": "entity",
"text": "reviewed gene: ABCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37777370, 30237576, 29302074, 31047799; Phenotypes: Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM 618808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCA2",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:14:22.631952+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC2L were set to 30120216; 32843486",
"entity_name": "TRAPPC2L",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:11:49.071154+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM163 were set to PMID: 35953447",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:10:32.959916+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BICD2 as ready",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:10:32.948674+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:10:14.401647+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BICD2 were changed from spinal muscular atrophy MONDO:0001516 to Neurodevelopmental disorder, BICD2-related (MONDO#0700092)",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:08:53.477963+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BICD2 as Amber List (moderate evidence)",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:08:53.467568+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:04:50.870069+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCKDK as ready",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:04:50.861220+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bckdk has been classified as Green List (High Evidence).",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:04:27.526594+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCKDK as Green List (high evidence)",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:04:27.518482+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bckdk has been classified as Green List (High Evidence).",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:03:06.920916+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DUOX2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:02:13.390201+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DUOX2 as Green List (high evidence)",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2023-12-15T14:02:13.362282+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: duox2 has been classified as Green List (High Evidence).",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:59:52.553345+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B4GAT1 as ready",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:59:52.542313+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4gat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:59:43.220738+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B4GAT1 as Amber List (moderate evidence)",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:59:43.209427+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4gat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:58:38.245095+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GALNT2 as ready",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:58:38.232464+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3galnt2 has been classified as Green List (High Evidence).",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:58:31.577892+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B3GALNT2 as Green List (high evidence)",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:58:31.565069+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3galnt2 has been classified as Green List (High Evidence).",
"entity_name": "B3GALNT2",
"entity_type": "gene"
}
]
}