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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1963",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1961",
"results": [
{
"created": "2020-01-25T15:14:44.284622+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD1B were changed from to Epilepsy with myoclonic absences; intellectual disability",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-01-25T15:14:10.866223+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETD1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-01-25T15:13:29.224852+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SETD1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29322246, 31440728, 31685013; Phenotypes: Epilepsy with myoclonic absences, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-01-25T15:07:28.058946+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHA as ready",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2020-01-25T15:07:28.051964+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdha has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2020-01-25T15:07:15.962072+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHA were changed from Leigh syndrome, MIM#256000 to Leigh syndrome, MIM#256000",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2020-01-25T15:06:45.603248+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHA were changed from to Leigh syndrome, MIM#256000",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2020-01-25T15:06:13.868865+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2020-01-25T15:05:37.870570+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SDHA as Amber List (moderate evidence)",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2020-01-25T15:05:37.863258+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdha has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2020-01-25T15:04:58.004198+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leigh syndrome, MIM#256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:40:47.114363+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RUSC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27612186; Phenotypes: Mental retardation, autosomal recessive 61, MIM#617773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RUSC2",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:31:00.951518+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RALA as ready",
"entity_name": "RALA",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:31:00.943984+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rala has been classified as Green List (High Evidence).",
"entity_name": "RALA",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:30:45.491533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RALA as Green List (high evidence)",
"entity_name": "RALA",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:30:45.483729+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rala has been classified as Green List (High Evidence).",
"entity_name": "RALA",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:30:02.663385+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RALA was added\ngene: RALA was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RALA were set to 30500825\nPhenotypes for gene: RALA were set to Intellectual disability; Seizures\nReview for gene: RALA was set to GREEN\ngene: RALA was marked as current diagnostic\nAdded comment: 11 individuals from 10 unrelated families reported with this neurodevelopmental syndrome, half had seizures. \nSources: Expert list",
"entity_name": "RALA",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:29:25.268086+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RALA as ready",
"entity_name": "RALA",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:29:25.260704+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rala has been classified as Green List (High Evidence).",
"entity_name": "RALA",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:28:29.570719+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RALA as Green List (high evidence)",
"entity_name": "RALA",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:28:29.563827+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rala has been classified as Green List (High Evidence).",
"entity_name": "RALA",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:27:20.507028+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RALA was added\ngene: RALA was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RALA were set to 30500825\nPhenotypes for gene: RALA were set to Intellectual disability; Seizures\nReview for gene: RALA was set to GREEN\nAdded comment: 11 individuals from 10 unrelated families reported with this neurodevelopmental syndrome, half had seizures. \nSources: Expert list",
"entity_name": "RALA",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:24:03.308621+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB3GAP2 as ready",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:24:03.300886+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:23:52.500282+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome, MIM#212720; Warburg micro syndrome 2, MIM#614225 to Martsolf syndrome, MIM#212720; Warburg micro syndrome 2, MIM#614225",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:23:15.068063+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP2 were changed from to Martsolf syndrome, MIM#212720; Warburg micro syndrome 2, MIM#614225",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:22:41.837850+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:22:06.703506+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAB3GAP2 as Amber List (moderate evidence)",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:22:06.696580+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:21:24.949927+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAB3GAP2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Martsolf syndrome, MIM#212720, Warburg micro syndrome 2, MIM#614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:20:10.839301+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB3GAP1 as ready",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:20:10.830972+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab3gap1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:14:58.730902+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP1 were changed from to Warburg micro syndrome 1, MIM#600118",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:14:28.063757+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB3GAP1 were set to ",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:13:56.819488+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:13:23.014377+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAB3GAP1 as Amber List (moderate evidence)",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:13:23.006556+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab3gap1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:12:42.319061+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAB3GAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20512159; Phenotypes: Warburg micro syndrome 1, MIM#600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:09:24.794940+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: QDPR as ready",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:09:24.787362+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qdpr has been classified as Green List (High Evidence).",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:09:12.270719+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: QDPR were changed from to Hyperphenylalaninemia, BH4-deficient, C, MIM#261630",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:08:38.513934+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: QDPR were set to ",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:08:01.387397+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: QDPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2020-01-25T14:07:19.232307+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 26006720; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM#261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2020-01-25T13:02:28.025704+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTF1A were changed from Pancreatic and cerebellar agenesis, MIM#609069 to Pancreatic and cerebellar agenesis, MIM#609069",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2020-01-25T13:02:12.827009+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTF1A as ready",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2020-01-25T13:02:12.816592+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptf1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2020-01-25T13:01:55.715311+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTF1A were changed from to Pancreatic and cerebellar agenesis, MIM#609069",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2020-01-25T13:01:24.882643+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTF1A were set to ",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2020-01-25T13:00:51.151512+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTF1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2020-01-25T13:00:14.811651+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTF1A as Amber List (moderate evidence)",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2020-01-25T13:00:14.801961+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptf1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:59:28.749066+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTF1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 21749365, 15543146, 19650412; Phenotypes: Pancreatic and cerebellar agenesis, MIM#609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:57:02.980790+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTEN were changed from Cowden syndrome 1, MIM#158350 to Cowden syndrome 1, MIM#158350",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:57:00.033834+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTEN as ready",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:57:00.019389+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pten has been classified as Green List (High Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:56:31.063411+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTEN were changed from to Cowden syndrome 1, MIM#158350",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:55:59.046810+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTEN were set to 9832032; 29033429; 29444762",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:55:27.970825+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTEN were set to ",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:54:56.387573+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:54:12.842610+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 9832032, 29033429, 29444762; Phenotypes: Cowden syndrome 1, MIM#158350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:52:06.318120+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSPH as ready",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:52:06.310483+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psph has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:51:57.441978+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSPH were changed from to Phosphoserine phosphatase deficiency, MIM#614023",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:51:21.932032+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSPH were set to ",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:39:50.057730+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:39:15.460319+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSPH as Amber List (moderate evidence)",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:39:15.453121+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psph has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:38:32.073039+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 25080166, 26589312, 14673469; Phenotypes: Phosphoserine phosphatase deficiency, MIM#614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:36:37.363449+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSAT1 as ready",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:36:37.356160+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:36:28.535377+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSAT1 were changed from Phosphoserine aminotransferase deficiency, MIM#610992 to Phosphoserine aminotransferase deficiency, MIM#610992",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:35:51.066138+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSAT1 were changed from to Phosphoserine aminotransferase deficiency, MIM#610992",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:35:16.850239+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSAT1 were set to ",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:34:40.323600+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:34:01.479188+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSAT1 as Amber List (moderate evidence)",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:34:01.471090+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:33:18.547923+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17436247, 26610677, 26960553; Phenotypes: Phosphoserine aminotransferase deficiency, MIM#610992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:28:47.293001+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2CA as ready",
"entity_name": "PPP2CA",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:28:47.275398+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2ca has been classified as Green List (High Evidence).",
"entity_name": "PPP2CA",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:28:38.202939+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP2CA as Green List (high evidence)",
"entity_name": "PPP2CA",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:28:38.194596+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2ca has been classified as Green List (High Evidence).",
"entity_name": "PPP2CA",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:27:34.980226+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPP2CA was added\ngene: PPP2CA was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPP2CA were set to 30595372\nPhenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities, MIM#618354\nReview for gene: PPP2CA was set to GREEN\ngene: PPP2CA was marked as current diagnostic\nAdded comment: 16 individuals with heterozygous pathogenic PPP2CA variants. Frequent features included feeding difficulties, hypotonia, developmental delay (16/16) with intellectual disability. Seizures are seen in 9 of 16 individuals. \nSources: Expert list",
"entity_name": "PPP2CA",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:24:20.275540+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMT2 as ready",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:24:20.266977+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:24:14.282691+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:23:35.528582+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:23:04.753452+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:22:29.478980+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POMT2 as Amber List (moderate evidence)",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:22:29.471489+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:21:43.911340+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:19:43.155737+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3CA as ready",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:19:43.148013+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3ca has been classified as Green List (High Evidence).",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:19:36.532008+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CA were changed from Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501 to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:19:05.465550+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CA were changed from to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:18:28.551440+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PIK3CA was changed from to Other",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:17:52.614715+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:17:12.341286+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: PIK3CA.",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:17:00.929464+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:12:10.820130+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDSS2 as ready",
"entity_name": "PDSS2",
"entity_type": "gene"
}
]
}