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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=479",
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"results": [
{
"created": "2024-03-22T14:47:35.689981+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HTRA2 were changed from to 3-methylglutaconic aciduria, type VIII, MIM# 617248",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:46:55.745482+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HTRA2 were set to ",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:46:18.778305+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HTRA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:45:13.288434+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple families reported with bi-allelic variants in HSPD1 and hypomyelinating leukodystrophy. Supportive mouse model. In addition, two unrelated individuals reported with same de novo missense p.Leu47Val and leukodystrophy.\r\n\r\nIn addition, mono-allelic variants found in families with SPG.; to: Multiple families reported with bi-allelic variants in HSPD1 and hypomyelinating leukodystrophy. Supportive mouse model. In addition, two unrelated individuals reported with same de novo missense p.Leu47Val and leukodystrophy.\r\n\r\nIn addition, mono-allelic variants found in families with SPG, not relevant to this panel.",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:45:00.612518+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HSPD1: Changed phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:44:47.194360+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSPD1 as ready",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:44:47.183728+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hspd1 has been classified as Green List (High Evidence).",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:44:32.874512+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSPD1 were changed from to Leukodystrophy, hypomyelinating, 4, MIM# 612233",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:43:52.823584+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSPD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:43:30.059169+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSPD1 were set to ",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:42:58.680990+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSPD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:42:05.771678+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD17B4 as ready",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:42:05.763048+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b4 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:41:56.010590+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD17B4 were changed from to D-bifunctional protein deficiency, AR (MIM#261515); Perrault syndrome 1, AR (MIM#233400)",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:41:30.640258+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSD17B4 were set to ",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:41:00.344158+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSD17B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:40:00.983438+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HRAS as ready",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:40:00.972755+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hras has been classified as Green List (High Evidence).",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:39:42.621473+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HRAS were changed from Costello syndrome, MIM# 218040 to Costello syndrome, MIM# 218040",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:39:12.396831+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HRAS were changed from to Costello syndrome, MIM# 218040",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:38:25.098432+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HRAS were set to ",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:37:58.962022+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: HRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:37:28.578192+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:36:10.296548+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMGCL as ready",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:36:10.285851+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgcl has been classified as Green List (High Evidence).",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:36:01.691032+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMGCL were changed from to HMG-CoA lyase deficiency, MIM# 246450",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:35:12.952556+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMGCL were set to ",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:34:35.622244+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HMGCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:33:25.227829+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HLCS as ready",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:33:25.220474+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hlcs has been classified as Green List (High Evidence).",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:33:21.696852+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HLCS were changed from to Holocarboxylase synthetase deficiency, MIM# 253270",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:31:59.415697+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HLCS were set to ",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:31:20.450270+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HLCS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:30:32.819978+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEXB as ready",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:30:32.808324+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hexb has been classified as Green List (High Evidence).",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:30:26.781125+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800; MONDO:0010006",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:29:46.388755+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HEXB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:28:51.973830+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEXA as ready",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:28:51.965375+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hexa has been classified as Green List (High Evidence).",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:28:48.524757+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:28:23.363443+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HEXA were set to ",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:27:42.482354+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HEXA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:26:35.024344+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEPACAM as ready",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:26:35.012498+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hepacam has been classified as Green List (High Evidence).",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:26:30.605762+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEPACAM were changed from to Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:25:56.530201+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HEPACAM were set to ",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:25:24.092306+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HEPACAM was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:22:58.125562+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAX1 as ready",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:22:58.115195+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hax1 has been classified as Green List (High Evidence).",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:22:53.569784+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HAX1 were changed from to Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:22:16.782290+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HAX1 were set to ",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:21:44.955271+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:20:35.638726+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GOSR2 as ready",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:20:35.628579+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gosr2 has been classified as Green List (High Evidence).",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:20:26.637434+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GOSR2 were changed from to Epilepsy, progressive myoclonic 6 , MIM#614018",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:19:44.809124+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GOSR2 were set to ",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:18:22.553237+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GOSR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:17:33.325028+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAQ as ready",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:17:33.311699+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnaq has been classified as Green List (High Evidence).",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:17:29.092834+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAQ were changed from to Sturge-Weber syndrome, somatic, mosaic 185300",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:16:58.729428+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAQ were set to ",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:16:32.374753+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GNAQ was changed from to Other",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:15:58.764798+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAQ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:15:38.960106+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: GNAQ.",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:14:43.613579+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GM2A as ready",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:14:43.606541+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gm2a has been classified as Green List (High Evidence).",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:14:39.696617+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant MIM#272750",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:14:08.600481+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GM2A were set to ",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:13:30.888739+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:12:28.567392+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLUL as ready",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:12:28.556813+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glul has been classified as Green List (High Evidence).",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:12:24.232931+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLUL were changed from to Glutamine deficiency, congenital MIM#610015",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:11:53.848369+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLUL were set to ",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:11:20.991768+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLUL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:10:43.368889+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLUL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutamine deficiency, congenital MIM#610015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:09:41.292857+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLUD1 as ready",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:09:41.285264+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glud1 has been classified as Green List (High Evidence).",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:09:37.291850+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, MIM# 606762",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:09:00.580298+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLUD1 were set to ",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:08:28.636752+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLUD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:07:51.410311+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Hypoglycaemic seizures.",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:06:24.678127+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLDC as ready",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:06:24.667925+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gldc has been classified as Green List (High Evidence).",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:06:20.273167+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLDC were changed from to Glycine encephalopathy (MIM#605899)",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:05:38.751106+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLDC were set to ",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:05:01.233583+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:04:06.475188+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLB1 as ready",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:04:06.464940+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glb1 has been classified as Green List (High Evidence).",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:04:01.971485+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLB1 were changed from to GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:02:38.764344+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLB1 were set to ",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:02:06.589943+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:01:09.415656+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GFM1 as ready",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:01:09.407746+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfm1 has been classified as Green List (High Evidence).",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:01:06.465572+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GFM1 were changed from to Combined oxidative phosphorylation deficiency 1 MIM#609060",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:00:33.654210+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GFM1 were set to ",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:00:02.354707+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2024-03-22T13:58:30.729414+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GFAP as ready",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2024-03-22T13:58:30.718108+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfap has been classified as Green List (High Evidence).",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2024-03-22T13:58:27.203554+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GFAP were changed from to Alexander disease, MIM#\t203450",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2024-03-22T13:57:34.266525+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GFAP were set to ",
"entity_name": "GFAP",
"entity_type": "gene"
}
]
}