HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1962",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1960",
"results": [
{
"created": "2020-01-25T20:26:38.165874+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 29961569, 27479843, 28135719, 25363760, 25961944; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, MIM#618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRAF7",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:24:32.679417+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNK2 as ready",
"entity_name": "TNK2",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:24:32.672163+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnk2 has been classified as Green List (High Evidence).",
"entity_name": "TNK2",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:23:56.573776+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNK2 were changed from to severe infantile onset epilepsy",
"entity_name": "TNK2",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:23:25.398127+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNK2 were set to ",
"entity_name": "TNK2",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:18:53.732347+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNK2",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:18:12.907793+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27977884, 23686771; Phenotypes: severe infantile onset epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNK2",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:14:49.557684+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM70 as ready",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:14:49.550203+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem70 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:14:43.710576+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM70 were changed from Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:14:07.853366+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM70 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:13:36.123561+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM70 were set to ",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:13:01.825491+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:12:14.905049+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM70 as Amber List (moderate evidence)",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:12:14.897941+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem70 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:11:33.409331+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM70: Rating: AMBER; Mode of pathogenicity: None; Publications: 18953340, 21147908; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:06:19.105668+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TIMM50 as ready",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:06:19.102614+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: At least 4 families reported, all affected individuals had seizures.",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:06:19.083202+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timm50 has been classified as Green List (High Evidence).",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:05:51.827287+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX, MIM#617698",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:05:17.456968+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TIMM50 were set to ",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:04:42.356852+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2020-01-25T20:03:51.375057+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: 27573165, 30190335, 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX, MIM#617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:48:29.168476+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TDP2 as ready",
"entity_name": "TDP2",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:48:29.152644+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdp2 has been classified as Green List (High Evidence).",
"entity_name": "TDP2",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:48:22.147671+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TDP2 as Green List (high evidence)",
"entity_name": "TDP2",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:48:22.140779+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdp2 has been classified as Green List (High Evidence).",
"entity_name": "TDP2",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:47:25.665920+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TDP2 was added\ngene: TDP2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TDP2 were set to 24658003; 30109272; 31410782\nPhenotypes for gene: TDP2 were set to Spinocerebellar ataxia, autosomal recessive 23, 616949\nReview for gene: TDP2 was set to GREEN\ngene: TDP2 was marked as current diagnostic\nAdded comment: At least 6 individuals from 4 unrelated families reported; ID/seizures/ataxia are a consistent features. \nSources: Expert list",
"entity_name": "TDP2",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:45:06.975955+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D20 as ready",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:45:06.968687+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:44:56.031478+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4, MIM#615663",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:43:38.909805+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D20 were set to 24239381",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:43:08.053084+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D20 were set to ",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:42:37.813535+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:41:55.221374+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBC1D20 as Amber List (moderate evidence)",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:41:55.212941+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:41:14.360263+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBC1D20: Rating: AMBER; Mode of pathogenicity: None; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, MIM#615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:39:07.070827+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TANGO2 as ready",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:39:07.063459+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tango2 has been classified as Green List (High Evidence).",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:38:19.195877+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TANGO2 as Green List (high evidence)",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:38:19.189069+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tango2 has been classified as Green List (High Evidence).",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:37:38.057507+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TANGO2 was added\ngene: TANGO2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TANGO2 were set to 26805782; 30245509\nPhenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises recurrent with rhabdomyolysis cardiac arrhythmias and neurodegeneration, 616878\nReview for gene: TANGO2 was set to GREEN\ngene: TANGO2 was marked as current diagnostic\nAdded comment: Seizures present in around 80% of reported individuals. \nSources: Expert list",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:28:56.055698+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUCLG1 as ready",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:28:56.048656+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suclg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:28:50.103772+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUCLG1 were set to 26475597; 27484306",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:28:19.264892+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUCLG1 were set to ",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:27:47.547690+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), MIM#245400",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:27:16.807118+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUCLG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:26:44.874755+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUCLG1 as Amber List (moderate evidence)",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:26:44.865359+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suclg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:26:05.526848+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SUCLG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26475597, 27484306; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), MIM#245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:21:39.933185+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ST3GAL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 23252400, 31584066; Phenotypes: Epileptic encephalopathy, early infantile, 15 , MIM#615006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:13:00.825832+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATA5 as ready",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:13:00.818235+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:11:13.509723+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPATA5 as Green List (high evidence)",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:11:13.499346+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:10:13.061411+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPATA5 was added\ngene: SPATA5 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA5 were set to 27246907; 29343804; 26299366\nPhenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577\nReview for gene: SPATA5 was set to GREEN\ngene: SPATA5 was marked as current diagnostic\nAdded comment: More than 15 families have been reported in multiple publications. Clinical features include intellectual disability, epilepsy, microcephaly and hearing loss. May present as epileptic encephalopathy/epilepsy in the first year of life prior to onset of obvious developmental delay. \nSources: Expert list",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:07:34.899678+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMS as ready",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:07:34.892238+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sms has been classified as Green List (High Evidence).",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:06:51.255740+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMS as Green List (high evidence)",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:06:51.243169+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sms has been classified as Green List (High Evidence).",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:05:51.996954+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMS was added\ngene: SMS was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SMS were set to 30237987\nPhenotypes for gene: SMS were set to Mental retardation X-linked Snyder-Robinson type, 309583\nReview for gene: SMS was set to GREEN\ngene: SMS was marked as current diagnostic\nAdded comment: Seizures reported in some affected individuals. \nSources: Expert list",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:02:20.062979+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCA2 as ready",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:02:20.054733+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca2 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:01:55.999733+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCA2 as Green List (high evidence)",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-01-25T18:01:55.992418+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca2 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:59:45.819426+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCA2 was added\ngene: SMARCA2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCA2 were set to 22366787; 22426308; 27665729\nPhenotypes for gene: SMARCA2 were set to Nicolaides-Baraitser syndrome, MIM# 601358\nReview for gene: SMARCA2 was set to GREEN\ngene: SMARCA2 was marked as current diagnostic\nAdded comment: Seizures reported in about half of affected individuals. \nSources: Expert list",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:53:33.352220+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC1A4 as ready",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:53:33.344869+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:53:19.303616+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC1A4 as Green List (high evidence)",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:53:19.296380+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:52:32.660362+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC1A4 as Green List (high evidence)",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:52:32.652963+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:51:41.095312+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC1A4 was added\ngene: SLC1A4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971\nPhenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM#\t616657\nReview for gene: SLC1A4 was set to GREEN\ngene: SLC1A4 was marked as current diagnostic\nAdded comment: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants \nSources: Expert list",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:50:32.489166+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC1A4 as ready",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:50:32.481880+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:49:58.690680+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC1A4 as Green List (high evidence)",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:49:58.683194+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:48:50.689538+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC1A4 was added\ngene: SLC1A4 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971\nPhenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM#\t616657\nReview for gene: SLC1A4 was set to GREEN\ngene: SLC1A4 was marked as current diagnostic\nAdded comment: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants \nSources: Expert list",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:44:46.798825+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIX3 as ready",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:44:46.791109+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:44:36.698417+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX3 were changed from to Holoprosencephaly 2, MIM#157170",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:44:03.454261+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:43:24.321727+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIX3 as Amber List (moderate evidence)",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:43:24.314032+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:42:42.194574+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 2, MIM#157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:40:23.733425+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHH as ready",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:40:23.725786+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shh has been classified as Green List (High Evidence).",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:40:15.206308+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHH were changed from to Hypothalamic hamartoma",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:39:42.252119+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHH was changed from Unknown to Other",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:39:18.786302+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: SHH.",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:39:00.235538+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothalamic hamartoma; Mode of inheritance: Other",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:29:32.624090+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGSH as ready",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:29:32.616949+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgsh has been classified as Green List (High Evidence).",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:29:21.971606+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SGSH as Green List (high evidence)",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:29:21.964504+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgsh has been classified as Green List (High Evidence).",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2020-01-25T17:28:20.553983+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGSH was added\ngene: SGSH was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGSH were set to 21061399; 30593151\nPhenotypes for gene: SGSH were set to Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900\nReview for gene: SGSH was set to GREEN\ngene: SGSH was marked as current diagnostic\nAdded comment: Seizures reported in over half of affected individuals. \nSources: Expert list",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2020-01-25T15:15:45.662514+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD1B as ready",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-01-25T15:15:45.654784+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd1b has been classified as Green List (High Evidence).",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-01-25T15:15:38.457651+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD1B were set to ",
"entity_name": "SETD1B",
"entity_type": "gene"
}
]
}