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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=490",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=488",
"results": [
{
"created": "2024-02-14T18:32:24.935650+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:31:49.517853+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:30:54.309487+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXL4 as ready",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:30:54.297657+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxl4 has been classified as Green List (High Evidence).",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:30:50.599038+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXL4 were changed from to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:30:13.907058+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBXL4 were set to ",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:29:40.611310+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBXL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:29:06.794573+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:27:59.445907+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FARS2 as ready",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:27:59.433286+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fars2 has been classified as Green List (High Evidence).",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:27:55.951785+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FARS2 were changed from to combined oxidative phosphorylation defect type 14 MONDO:0013986",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:27:29.274320+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FARS2 were set to ",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:26:57.838162+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:24:15.211167+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TET3 as ready",
"entity_name": "TET3",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:24:15.194362+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tet3 has been classified as Green List (High Evidence).",
"entity_name": "TET3",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:18:04.757180+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TET3 as Green List (high evidence)",
"entity_name": "TET3",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:18:04.747706+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tet3 has been classified as Green List (High Evidence).",
"entity_name": "TET3",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:17:30.206472+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TET3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Beck-Fahrner syndrome MIM#618798; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TET3",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:15:09.112836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THOC2 were changed from Mental retardation, X-linked 12/35 MIM#300957 to Mental retardation, X-linked 12/35 MIM#300957; Arthrogryposis (MONDO:0008779), THOC2-related",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:14:56.764033+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THOC2 were set to 26166480; 32116545; 29851191; 32960281",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-02-14T18:14:38.620213+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: THOC2: Added comment: PMID: 34976470 - arthrogryposis multiplex congenita phenotype (AMC) in two male fetuses in a family, caused by splice deletion c.2482-1_2484delGTCA which was mat inherited. No splice studies conducted, mother was normal. Postulate that amorphic or severe null pathogenic variants (possible complete loss of function) lead to AMC phenotype\r\n\r\nPMID: 37945483 - a proband with AMC and the same splice site mutation ^ above, but de novo. Cytoplasmic bodies also detected in muscle; Changed publications: 29851191, 34976470, 37945483; Changed phenotypes: Mental retardation, X-linked 12/35 MIM#300957, Arthrogryposis (MONDO:0008779), THOC2-related",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-02-14T14:12:35.817388+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2273",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: TK2 as ready",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2024-02-14T14:12:35.804989+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2273",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: tk2 has been classified as Green List (High Evidence).",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2024-02-14T14:12:31.096077+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2273",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: TK2 as Green List (high evidence)",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2024-02-14T14:12:31.084321+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2273",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: tk2 has been classified as Green List (High Evidence).",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2024-02-14T14:11:26.457230+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2272",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TK2 was added\ngene: TK2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TK2 were set to 25446393; 16504786\nPhenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM#609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069\nReview for gene: TK2 was set to GREEN\nAdded comment: GeneReviews: Seizures 11/34 (32%) in infantile onset cases\r\n\r\nPMID: 25446393 - two siblings with chet missense, presenting with early onset myopathy with profound loss of muscle mass, axonal neuropathy, respiratory failure as well as severe brain atrophy with status epilepticus. \r\n\r\nPMID: 16504786 - five children in two families reported with infantile encephalomyopathy with biallelic missense. Generalised seizures described in 2/3 siblings from one family \nSources: Literature",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2024-02-14T13:44:24.461053+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2271",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: THOC2 as ready",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-02-14T13:44:24.447629+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2271",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: thoc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-02-14T13:43:35.735130+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2271",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: THOC2 as Amber List (moderate evidence)",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-02-14T13:43:35.724056+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2271",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: thoc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-02-14T13:43:03.826264+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2270",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: THOC2 was added\ngene: THOC2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: THOC2 were set to PMID: 26166480; 29851191\nPhenotypes for gene: THOC2 were set to Intellectual developmental disorder, X-linked 12 MIM#300957\nReview for gene: THOC2 was set to AMBER\nAdded comment: Seizures (in some patients) described in OMIM\r\n\r\nPMID: 26166480 - gene-disease establishing paper, epilepsy described in 5/20 individuals where affected individuals were from three families. Only missense reported but all segregated well in families and had backing functional studies.\r\n\r\nPMID: 29851191 - overlapping authors with ^, expanded cohort. Only 1/7 probands had epilepsy with an additional proband \"suspected\" \nSources: Literature",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-02-14T13:31:14.012048+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.405",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: THOC2 as Amber List (moderate evidence)",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-02-14T13:31:14.000533+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.405",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: thoc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-02-14T13:30:55.674864+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.405",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: THOC2 as Amber List (moderate evidence)",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-02-14T13:30:55.651751+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.405",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: thoc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-02-14T13:29:05.869273+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.404",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: THOC2 as Amber List (moderate evidence)",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-02-14T13:29:05.858167+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.404",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: thoc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-02-14T13:29:05.361851+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.403",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: THOC2 as ready",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-02-14T13:29:05.351727+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.403",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: thoc2 has been classified as Red List (Low Evidence).",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-02-14T13:27:30.720532+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.403",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: THOC2 was added\ngene: THOC2 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: THOC2 were set to PMID: 34976470; 37945483\nPhenotypes for gene: THOC2 were set to Arthrogryposis (MONDO:0008779), THOC2-related\nReview for gene: THOC2 was set to AMBER\nAdded comment: PMID: 34976470 - arthrogryposis multiplex congenita phenotype (AMC) in two male fetuses in a family, caused by splice deletion c.2482-1_2484delGTCA which was mat inherited. No splice studies conducted, mother was normal.\r\nPostulate that amorphic or severe null pathogenic variants (possible complete loss of function) lead to AMC phenotype \r\n\r\nPMID: 37945483 - a proband with AMC and the same splice site mutation ^ above, but de novo. Cytoplasmic bodies also detected in muscle \nSources: Literature",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-02-14T11:34:16.430985+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2269",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: TGIF1 as ready",
"entity_name": "TGIF1",
"entity_type": "gene"
},
{
"created": "2024-02-14T11:34:16.413195+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2269",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: tgif1 has been classified as Red List (Low Evidence).",
"entity_name": "TGIF1",
"entity_type": "gene"
},
{
"created": "2024-02-14T11:34:09.501599+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2269",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TGIF1 was added\ngene: TGIF1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TGIF1 were set to Holoprosencephaly 4 MIM#142946\nReview for gene: TGIF1 was set to RED\nAdded comment: Gene was listed in the Oliver list \nSources: Literature",
"entity_name": "TGIF1",
"entity_type": "gene"
},
{
"created": "2024-02-14T11:23:55.481704+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2268",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TET3 was added\ngene: TET3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TET3 were set to 36192301\nPhenotypes for gene: TET3 were set to Beck-Fahrner syndrome MIM#618798\nReview for gene: TET3 was set to AMBER\nAdded comment: Seizures (in some patients) noted in OMIM\r\n\r\nGeneReviews: seizure disorder described in 9/24 patients\r\n\r\nPMID: 36192301 - de novo PTC, generalized tonic-clonic seizures began at 5yo\r\n\r\nDifficulty finding additional literature stating patient phenotypes \nSources: Literature",
"entity_name": "TET3",
"entity_type": "gene"
},
{
"created": "2024-02-14T11:10:44.190929+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5698",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: TET3 were changed from Intellectual disability; dysmorphic features; abnormal growth; movement disorders to Beck-Fahrner syndrome MIM#618798",
"entity_name": "TET3",
"entity_type": "gene"
},
{
"created": "2024-02-14T11:10:26.610761+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1538",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: TET3 were changed from Intellectual disability; dysmorphic features; abnormal growth; movement disorders to Beck-Fahrner syndrome MIM#618798",
"entity_name": "TET3",
"entity_type": "gene"
},
{
"created": "2024-02-14T11:09:36.211568+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2267",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: TBC1D7 as ready",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2024-02-14T11:09:36.183465+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2267",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: tbc1d7 has been classified as Red List (Low Evidence).",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2024-02-14T11:09:22.334369+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2267",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TBC1D7 was added\ngene: TBC1D7 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TBC1D7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D7 were set to 23687350; 24515783\nPhenotypes for gene: TBC1D7 were set to Macrocephaly/megalencephaly syndrome, autosomal recessive MIM#248000\nReview for gene: TBC1D7 was set to RED\nAdded comment: PMID: 23687350 - There is no history of seizures in two siblings, but EEG recording showed some epileptic activity in the right temporal lobe\r\n\r\nPMID: 24515783 - There is no history of seizures; EEG and brain SPECT were normal.\r\n\r\nGene was listed in the Oliver list \nSources: Literature",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:34:34.073750+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B4 as ready",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:34:34.068237+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Seizures are a feature.",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:34:34.029335+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b4 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:34:19.720665+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2B4 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:33:47.279929+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2B4 were set to ",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:33:23.151783+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:32:32.090521+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B3 as ready",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:32:32.077871+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:27:23.324212+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2B3 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:26:50.840137+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2B3 were set to ",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:26:17.433285+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2B3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:25:31.137394+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B2 as ready",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:25:31.128293+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:25:26.848614+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2B2 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896; Ovarioleukodystrophy, MIM# 603896",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:24:35.540540+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2B2 were set to ",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:24:04.039863+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:23:17.962139+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B1 as ready",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:23:17.950787+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b1 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:23:09.323922+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2B1 were changed from to Leukoencephalopathy with vanishing white matter MIM#603896; Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:22:38.104871+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2B1 were set to ",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:22:10.859050+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2B1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:21:08.453000+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMK as ready",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:21:08.441770+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomk has been classified as Amber List (Moderate Evidence).",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:21:01.537484+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POMK as Amber List (moderate evidence)",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:21:01.525008+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomk has been classified as Amber List (Moderate Evidence).",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:20:26.466216+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 MIM#615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:19:35.251221+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDM8 as ready",
"entity_name": "PRDM8",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:19:35.242322+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm8 has been classified as Red List (Low Evidence).",
"entity_name": "PRDM8",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:19:24.177876+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRDM8 was added\ngene: PRDM8 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PRDM8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDM8 were set to 2296154; 35034233\nPhenotypes for gene: PRDM8 were set to Epilepsy, progressive myoclonic, 10 MIM#616640\nReview for gene: PRDM8 was set to RED\nAdded comment: - PMID:22961547, 3 individuals from one family, all with myoclonic epilepsy, all had the Phe261Leu variant. This variant is absent from gnomAD V4.\r\n- PMID: 35034233, Two individuals from one family, no clinical seizures but presented with myoclonus and abnormal EEG (generalised epileptiform charges), these individuals had the Ala230Gly missense change, which has currently been reported as a VUS. \nSources: Expert list",
"entity_name": "PRDM8",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:18:59.907627+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDM8 as ready",
"entity_name": "PRDM8",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:18:59.896788+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm8 has been classified as Red List (Low Evidence).",
"entity_name": "PRDM8",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:18:56.431403+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRDM8 as Red List (low evidence)",
"entity_name": "PRDM8",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:18:56.421008+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm8 has been classified as Red List (Low Evidence).",
"entity_name": "PRDM8",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:16:43.527108+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRDM8 as Red List (low evidence)",
"entity_name": "PRDM8",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:16:43.518331+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm8 has been classified as Red List (Low Evidence).",
"entity_name": "PRDM8",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:15:10.471794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRIMA1 as ready",
"entity_name": "PRIMA1",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:15:10.452978+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prima1 has been classified as Red List (Low Evidence).",
"entity_name": "PRIMA1",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:14:43.313827+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRIMA1 was added\ngene: PRIMA1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PRIMA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRIMA1 were set to 26339676\nPhenotypes for gene: PRIMA1 were set to Frontal Lobe Epilepsy MONDO:0002612\nReview for gene: PRIMA1 was set to RED\nAdded comment: - 2/3 siblings from unaffected parents in PMID: 26339676 were diagnosed with nocturnal frontal lobe epilepsy, which was confirmed by EEG. The affected siblings were homozygous for the c.93+2T>C variant canonical splice site variant. This variant was demonstrated by mini-gene assay to skip exon 2 of PRIMA1. Overall 1 family, 2 individuals with epilepsy and high impact variants in PRIMA1. \nSources: Expert list",
"entity_name": "PRIMA1",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:14:25.025671+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRIMA1 as ready",
"entity_name": "PRIMA1",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:14:25.013338+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prima1 has been classified as Red List (Low Evidence).",
"entity_name": "PRIMA1",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:12:56.669482+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRIMA1 as Red List (low evidence)",
"entity_name": "PRIMA1",
"entity_type": "gene"
},
{
"created": "2024-02-13T21:12:56.654168+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prima1 has been classified as Red List (Low Evidence).",
"entity_name": "PRIMA1",
"entity_type": "gene"
},
{
"created": "2024-02-13T18:50:05.229863+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAX were changed from Syndromic disease (MONDO:0002254), MAX-related to Polydactyly-macrocephaly syndrome, MIM# 620712",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-02-13T18:49:50.729491+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polydactyly-macrocephaly syndrome, MIM# 620712; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-02-13T18:49:18.033485+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAX were changed from Syndromic disease (MONDO:0002254), MAX-related to Polydactyly-macrocephaly syndrome, MIM# 620712",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-02-13T18:48:35.451980+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAX were changed from Syndromic disease (MONDO:0002254), MAX-related to Polydactyly-macrocephaly syndrome, MIM# 620712",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-02-13T18:47:51.049962+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polydactyly-macrocephaly syndrome, MIM# 620712; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-02-13T18:47:28.335757+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAX were changed from {Pheochromocytoma, susceptibility to}, MIM# 171300; Syndromic disease (MONDO:0002254), MAX-related to {Pheochromocytoma, susceptibility to}, MIM# 171300; Polydactyly-macrocephaly syndrome, MIM# 620712",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-02-13T18:46:48.290088+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAX were changed from Syndromic disease (MONDO:0002254), MAX-related to Polydactyly-macrocephaly syndrome, MIM# 620712",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-02-13T18:46:16.250639+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAX: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Polydactyly-macrocephaly syndrome, MIM# 620712; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:38:55.462790+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R5D as ready",
"entity_name": "PPP2R5D",
"entity_type": "gene"
}
]
}