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{
"count": 220833,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1972",
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"results": [
{
"created": "2020-01-22T10:25:27.528330+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntng1 has been classified as Red List (Low Evidence).",
"entity_name": "NTNG1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:25:18.465306+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NTNG1 as Red List (low evidence)",
"entity_name": "NTNG1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:25:18.453258+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntng1 has been classified as Red List (Low Evidence).",
"entity_name": "NTNG1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:24:38.910319+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NTNG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NTNG1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:24:20.042198+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NTNG1 as ready",
"entity_name": "NTNG1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:24:20.026820+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntng1 has been classified as Red List (Low Evidence).",
"entity_name": "NTNG1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:24:05.185199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NTNG1 as Red List (low evidence)",
"entity_name": "NTNG1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:24:05.168104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntng1 has been classified as Red List (Low Evidence).",
"entity_name": "NTNG1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:23:17.430558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NTNG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NTNG1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:22:56.160086+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NTNG1 as ready",
"entity_name": "NTNG1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:22:56.148562+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntng1 has been classified as Red List (Low Evidence).",
"entity_name": "NTNG1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:22:46.533018+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NTNG1 as Red List (low evidence)",
"entity_name": "NTNG1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:22:46.520725+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntng1 has been classified as Red List (Low Evidence).",
"entity_name": "NTNG1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:22:04.862428+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NTNG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NTNG1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:07:23.776242+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAS1 as ready",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:07:23.764332+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas1 has been classified as Red List (Low Evidence).",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:07:22.619850+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GAS1 were set to 21842183; 20583177",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:06:38.118196+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAS1 were changed from to Holoprosencephaly",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:06:10.744910+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GAS1 were set to ",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:05:35.141062+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:04:35.057507+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAS1 as ready",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:04:35.045977+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas1 has been classified as Red List (Low Evidence).",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:04:15.182702+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAS1 as Red List (low evidence)",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:04:15.171188+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas1 has been classified as Red List (Low Evidence).",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:03:42.504384+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GAS1: Rating: RED; Mode of pathogenicity: None; Publications: 21842183, 20583177; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:02:33.731257+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAS1 as ready",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:02:33.719801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas1 has been classified as Red List (Low Evidence).",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:02:22.148954+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:01:22.370907+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAS1 were changed from to Holoprosencephaly",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:00:47.627423+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GAS1 were set to ",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:59:44.501891+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAS1 as Red List (low evidence)",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:59:44.489840+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas1 has been classified as Red List (Low Evidence).",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:59:12.090595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GAS1: Rating: RED; Mode of pathogenicity: None; Publications: 21842183, 20583177; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:55:22.117281+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAS1 were changed from Holoprosencephaly to Holoprosencephaly",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:55:02.473358+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAS1 as ready",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:55:02.457251+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas1 has been classified as Red List (Low Evidence).",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:54:46.761474+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GAS1 were set to ",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:54:23.637128+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAS1 were changed from to Holoprosencephaly",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:52:48.603814+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:52:10.685689+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAS1 as Red List (low evidence)",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:52:10.673732+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas1 has been classified as Red List (Low Evidence).",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:51:29.670145+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GAS1: Rating: RED; Mode of pathogenicity: None; Publications: 21842183, 20583177; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:25:30.597150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IMMP2L as ready",
"entity_name": "IMMP2L",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:25:30.583178+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: immp2l has been classified as Red List (Low Evidence).",
"entity_name": "IMMP2L",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:25:18.646505+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IMMP2L were changed from to Autism",
"entity_name": "IMMP2L",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:24:30.201365+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IMMP2L were set to ",
"entity_name": "IMMP2L",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:24:14.237176+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IMMP2L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IMMP2L",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:23:52.709542+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IMMP2L as Red List (low evidence)",
"entity_name": "IMMP2L",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:23:52.698076+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: immp2l has been classified as Red List (Low Evidence).",
"entity_name": "IMMP2L",
"entity_type": "gene"
},
{
"created": "2020-01-22T09:23:33.321957+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IMMP2L: Rating: RED; Mode of pathogenicity: None; Publications: 29788020, 29152845; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IMMP2L",
"entity_type": "gene"
},
{
"created": "2020-01-21T22:03:54.727214+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPRR as ready",
"entity_name": "PTPRR",
"entity_type": "gene"
},
{
"created": "2020-01-21T22:03:54.715462+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptprr has been classified as Red List (Low Evidence).",
"entity_name": "PTPRR",
"entity_type": "gene"
},
{
"created": "2020-01-21T22:02:06.134861+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAT4 as ready",
"entity_name": "STAT4",
"entity_type": "gene"
},
{
"created": "2020-01-21T22:02:06.122194+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat4 has been classified as Red List (Low Evidence).",
"entity_name": "STAT4",
"entity_type": "gene"
},
{
"created": "2020-01-21T21:58:54.935233+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLL1 as ready",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2020-01-21T21:58:54.923842+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dll1 has been classified as Green List (High Evidence).",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2020-01-21T21:58:41.283632+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLL1 as Green List (high evidence)",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2020-01-21T21:58:41.272217+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dll1 has been classified as Green List (High Evidence).",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2020-01-21T21:57:52.122178+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLL1 was added\ngene: DLL1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DLL1 were set to 31353024\nPhenotypes for gene: DLL1 were set to Intellectual disability; autism; seizures; variable brain abnormalities; scoliosis\nReview for gene: DLL1 was set to GREEN\nAdded comment: Fifteen individuals from 12 unrelated families reported. \nSources: Literature",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2020-01-21T21:51:25.695066+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTHFS as ready",
"entity_name": "MTHFS",
"entity_type": "gene"
},
{
"created": "2020-01-21T21:51:25.683616+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mthfs has been classified as Green List (High Evidence).",
"entity_name": "MTHFS",
"entity_type": "gene"
},
{
"created": "2020-01-21T21:51:09.840213+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTHFS as Green List (high evidence)",
"entity_name": "MTHFS",
"entity_type": "gene"
},
{
"created": "2020-01-21T21:51:09.828431+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mthfs has been classified as Green List (High Evidence).",
"entity_name": "MTHFS",
"entity_type": "gene"
},
{
"created": "2020-01-21T21:50:21.349206+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTHFS was added\ngene: MTHFS was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTHFS were set to 30031689; 31844630; 22303332\nPhenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367\nReview for gene: MTHFS was set to GREEN\nAdded comment: Three unrelated individuals reported with supporting biochemical evidence. \nSources: Literature",
"entity_name": "MTHFS",
"entity_type": "gene"
},
{
"created": "2020-01-21T21:49:01.312856+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTHFS as Green List (high evidence)",
"entity_name": "MTHFS",
"entity_type": "gene"
},
{
"created": "2020-01-21T21:49:01.301568+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mthfs has been classified as Green List (High Evidence).",
"entity_name": "MTHFS",
"entity_type": "gene"
},
{
"created": "2020-01-21T21:48:16.023117+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTHFS was added\ngene: MTHFS was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTHFS were set to 30031689; 31844630; 22303332\nPhenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367\nReview for gene: MTHFS was set to GREEN\nAdded comment: Three unrelated individuals reported with supporting biochemical evidence. \nSources: Literature",
"entity_name": "MTHFS",
"entity_type": "gene"
},
{
"created": "2020-01-21T21:47:38.852723+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTHFS as ready",
"entity_name": "MTHFS",
"entity_type": "gene"
},
{
"created": "2020-01-21T21:47:38.841369+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mthfs has been classified as Green List (High Evidence).",
"entity_name": "MTHFS",
"entity_type": "gene"
},
{
"created": "2020-01-21T21:47:15.611048+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTHFS as Green List (high evidence)",
"entity_name": "MTHFS",
"entity_type": "gene"
},
{
"created": "2020-01-21T21:47:15.599931+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mthfs has been classified as Green List (High Evidence).",
"entity_name": "MTHFS",
"entity_type": "gene"
},
{
"created": "2020-01-21T21:46:16.495299+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTHFS was added\ngene: MTHFS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTHFS were set to 30031689; 31844630; 22303332\nPhenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367\nReview for gene: MTHFS was set to GREEN\nAdded comment: Three unrelated individuals reported with supporting biochemical evidence. \nSources: Literature",
"entity_name": "MTHFS",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:43:39.352627+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUL4B as ready",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:43:39.341078+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul4b has been classified as Green List (High Evidence).",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:43:19.496268+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CUL4B as Green List (high evidence)",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:43:19.485019+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul4b has been classified as Green List (High Evidence).",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:42:17.632416+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CUL4B was added\ngene: CUL4B was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: CUL4B were set to 22182342; 17236139\nPhenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354\nReview for gene: CUL4B was set to GREEN\ngene: CUL4B was marked as current diagnostic\nAdded comment: ~30% of reported individuals have had seizures. \nSources: Expert list",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:39:02.935151+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTNNA2 as ready",
"entity_name": "CTNNA2",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:39:02.923540+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnna2 has been classified as Green List (High Evidence).",
"entity_name": "CTNNA2",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:38:55.493431+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTNNA2 as Green List (high evidence)",
"entity_name": "CTNNA2",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:38:55.482187+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnna2 has been classified as Green List (High Evidence).",
"entity_name": "CTNNA2",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:38:12.485683+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTNNA2 was added\ngene: CTNNA2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTNNA2 were set to 30013181\nPhenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174\nReview for gene: CTNNA2 was set to GREEN\nAdded comment: 13 children from three unrelated families reported, epilepsy is part of the phenotype \nSources: Literature",
"entity_name": "CTNNA2",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:32:47.827757+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CREBBP as ready",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:32:47.815889+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crebbp has been classified as Green List (High Evidence).",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:32:39.221857+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CREBBP as Green List (high evidence)",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:32:39.210311+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crebbp has been classified as Green List (High Evidence).",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:31:41.767106+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CREBBP was added\ngene: CREBBP was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CREBBP were set to 29460469\nPhenotypes for gene: CREBBP were set to Menke-Hennekam syndrome 1, MIM#\t618332\nReview for gene: CREBBP was set to GREEN\ngene: CREBBP was marked as current diagnostic\nAdded comment: Exon 30 and 31 CREBBP variants cause a syndrome distinct from Rubinstein-Taybi and according to this case series 21% have epilepsy \nSources: Expert list",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:24:44.155753+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX15 as ready",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:24:44.143915+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:24:30.207407+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX15 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000 to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:23:51.819491+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX15 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:23:15.738620+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX15 were set to ",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:22:39.307901+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:22:03.626926+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX15 as Amber List (moderate evidence)",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:22:03.615394+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:21:24.138385+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: None; Publications: 21412973, 12474143, 15863660, 15235026,; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, MIM#615119 and Leigh syndrome #256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:19:25.963327+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX10 as ready",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:19:25.951654+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:19:08.214842+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX10 were changed from to Mitochondrial complex IV deficiency, MIM#220110",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:18:39.957094+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX10 were set to ",
"entity_name": "COX10",
"entity_type": "gene"
}
]
}