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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2056",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2054",
"results": [
{
"created": "2019-12-09T12:17:19.944763+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRR12 as Green List (high evidence)",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2019-12-09T12:17:19.936773+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prr12 has been classified as Green List (High Evidence).",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2019-12-09T12:17:07.779831+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRR12 was added\ngene: PRR12 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRR12 were set to 29556724\nReview for gene: PRR12 was set to GREEN\nAdded comment: Three unrelated individuals reported with de novo LoF variants; in addition, another individual with translocation disrupting gene. \nSources: Literature",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2019-12-09T12:07:13.758890+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKRA as ready",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2019-12-09T12:07:13.751971+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkra has been classified as Red List (Low Evidence).",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2019-12-09T12:07:09.498912+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKRA were changed from to Dystonia 16, MIM#612067",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2019-12-09T12:06:54.498217+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKRA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2019-12-09T12:06:48.303080+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRKRA as Red List (low evidence)",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2019-12-09T12:06:48.295786+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkra has been classified as Red List (Low Evidence).",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2019-12-09T12:06:35.572847+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKRA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 16, MIM#612067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2019-12-09T12:04:44.933466+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKN as ready",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2019-12-09T12:04:44.926111+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkn has been classified as Red List (Low Evidence).",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2019-12-09T12:04:38.366438+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKN were changed from to Parkinson disease, juvenile, type 2, MIM#600116",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2019-12-09T12:04:27.124406+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2019-12-09T12:04:19.984046+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRKN as Red List (low evidence)",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2019-12-09T12:04:19.976536+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkn has been classified as Red List (Low Evidence).",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2019-12-09T12:03:56.722756+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease, juvenile, type 2, MIM#600116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:59:38.392176+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKDC as ready",
"entity_name": "PRKDC",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:59:38.385218+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkdc has been classified as Red List (Low Evidence).",
"entity_name": "PRKDC",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:59:24.417322+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKDC were changed from to Immunodeficiency 26, with or without neurologic abnormalities, MIM#615966",
"entity_name": "PRKDC",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:59:11.049389+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKDC were set to ",
"entity_name": "PRKDC",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:59:02.652519+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKDC",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:58:55.105131+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRKDC as Red List (low evidence)",
"entity_name": "PRKDC",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:58:55.097568+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkdc has been classified as Red List (Low Evidence).",
"entity_name": "PRKDC",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:58:42.661996+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKDC: Rating: RED; Mode of pathogenicity: None; Publications: 19075392, 23722905; Phenotypes: Immunodeficiency 26, with or without neurologic abnormalities, MIM#615966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKDC",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:44:16.451857+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKAR1A were changed from to Acrodysostosis 1, with or without hormone resistance, MIM#101800",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:44:02.165145+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKAR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:43:48.357294+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodysostosis 1, with or without hormone resistance, MIM#101800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:41:36.724242+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRICKLE1 as ready",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:41:36.716400+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle1 has been classified as Red List (Low Evidence).",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:41:30.668511+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRICKLE1 were changed from to Epilepsy, progressive myoclonic 1B, MIM#612437",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:41:15.656558+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRICKLE1 as Red List (low evidence)",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:41:15.649298+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle1 has been classified as Red List (Low Evidence).",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:41:03.208649+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRICKLE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM#612437; Mode of inheritance: None",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:37:56.774400+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRF1 as ready",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:37:56.767065+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prf1 has been classified as Red List (Low Evidence).",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:37:44.063389+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRF1 were changed from to Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:37:19.804584+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:34:58.777949+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRF1 as Red List (low evidence)",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:34:58.770647+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prf1 has been classified as Red List (Low Evidence).",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:34:46.566524+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:33:11.641554+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PREPL as ready",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:33:11.633312+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prepl has been classified as Red List (Low Evidence).",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:32:36.181082+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PREPL were changed from to Myasthenic syndrome, congenital, 22, MIM#616224",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:32:24.549675+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PREPL were set to ",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:32:03.972486+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PREPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:31:54.221039+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PREPL as Red List (low evidence)",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:31:54.213711+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prepl has been classified as Red List (Low Evidence).",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:30:48.101956+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PREPL: Rating: RED; Mode of pathogenicity: None; Publications: 28726805; Phenotypes: Myasthenic syndrome, congenital, 22, MIM#616224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:28:11.306956+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R21 as ready",
"entity_name": "PPP1R21",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:28:11.299343+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r21 has been classified as Green List (High Evidence).",
"entity_name": "PPP1R21",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:28:02.695625+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP1R21 as Green List (high evidence)",
"entity_name": "PPP1R21",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:28:02.687956+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r21 has been classified as Green List (High Evidence).",
"entity_name": "PPP1R21",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:27:40.598250+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPP1R21 was added\ngene: PPP1R21 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPP1R21 were set to 30520571\nPhenotypes for gene: PPP1R21 were set to Hypotonia; intellectual disability; white matter abnormalities\nReview for gene: PPP1R21 was set to GREEN\nAdded comment: At least four unrelated families reported. \nSources: Literature",
"entity_name": "PPP1R21",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:24:56.666271+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDM8 as ready",
"entity_name": "PRDM8",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:24:56.658955+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm8 has been classified as Red List (Low Evidence).",
"entity_name": "PRDM8",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:24:50.484350+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM8 were changed from to Epilepsy, progressive myoclonic, 10, MIM#616640",
"entity_name": "PRDM8",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:24:37.595305+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRDM8 were set to ",
"entity_name": "PRDM8",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:24:26.065955+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRDM8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRDM8",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:24:14.948842+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRDM8 as Red List (low evidence)",
"entity_name": "PRDM8",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:24:14.940863+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm8 has been classified as Red List (Low Evidence).",
"entity_name": "PRDM8",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:24:01.756352+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRDM8: Rating: RED; Mode of pathogenicity: None; Publications: 22961547; Phenotypes: Epilepsy, progressive myoclonic, 10, MIM#616640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRDM8",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:17:46.764180+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R21 as ready",
"entity_name": "PPP1R21",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:17:46.756641+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r21 has been classified as Green List (High Evidence).",
"entity_name": "PPP1R21",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:17:42.218628+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP1R21 as Green List (high evidence)",
"entity_name": "PPP1R21",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:17:42.211446+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r21 has been classified as Green List (High Evidence).",
"entity_name": "PPP1R21",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:17:27.238092+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPP1R21 was added\ngene: PPP1R21 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPP1R21 were set to 30520571\nPhenotypes for gene: PPP1R21 were set to Hypotonia; intellectual disability; white matter abnormalities\nReview for gene: PPP1R21 was set to GREEN\nAdded comment: At least four unrelated families reported with bi-allelic variants in this gene. \nSources: Literature",
"entity_name": "PPP1R21",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:09:32.987139+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPOX as ready",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:09:32.979943+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppox has been classified as Red List (Low Evidence).",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:09:29.295157+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPOX were changed from to Porphyria variegata, MIM#176200",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:09:11.828320+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPOX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:09:00.137468+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPOX as Red List (low evidence)",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:09:00.129465+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppox has been classified as Red List (Low Evidence).",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2019-12-09T11:08:48.525612+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPOX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria variegata, MIM#176200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:52:56.297206+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPM1K as ready",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:52:56.289448+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppm1k has been classified as Red List (Low Evidence).",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:52:45.933114+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPM1K were changed from to Maple syrup urine disease, mild variant, MIM#615135",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:52:21.486539+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPM1K were set to ",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:52:07.609535+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPM1K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:52:01.012094+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPM1K as Red List (low evidence)",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:52:01.003119+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppm1k has been classified as Red List (Low Evidence).",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:51:47.165886+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPM1K: Rating: RED; Mode of pathogenicity: None; Publications: 23086801; Phenotypes: Maple syrup urine disease, mild variant, MIM#615135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:43:38.205138+11:00",
"panel_name": "Aortopathy, Connective tissue disorder_VCGS",
"panel_id": 44,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLOD3 as ready",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:43:38.197350+11:00",
"panel_name": "Aortopathy, Connective tissue disorder_VCGS",
"panel_id": 44,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod3 has been classified as Green List (High Evidence).",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:43:27.108763+11:00",
"panel_name": "Aortopathy, Connective tissue disorder_VCGS",
"panel_id": 44,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLOD3 as Green List (high evidence)",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:43:27.096119+11:00",
"panel_name": "Aortopathy, Connective tissue disorder_VCGS",
"panel_id": 44,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod3 has been classified as Green List (High Evidence).",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:41:59.174413+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POP1 as ready",
"entity_name": "POP1",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:41:59.167414+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pop1 has been classified as Red List (Low Evidence).",
"entity_name": "POP1",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:41:50.450517+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POP1 were changed from to Anauxetic dysplasia 2, MIM#617396",
"entity_name": "POP1",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:41:35.740750+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POP1",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:41:21.227790+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POP1 as Red List (low evidence)",
"entity_name": "POP1",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:41:21.220015+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pop1 has been classified as Red List (Low Evidence).",
"entity_name": "POP1",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:41:07.227006+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anauxetic dysplasia 2, MIM#617396; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POP1",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:36:36.162290+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PON3 as ready",
"entity_name": "PON3",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:36:36.154899+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pon3 has been classified as Red List (Low Evidence).",
"entity_name": "PON3",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:36:31.835892+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PON3 as Red List (low evidence)",
"entity_name": "PON3",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:36:31.827946+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pon3 has been classified as Red List (Low Evidence).",
"entity_name": "PON3",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:36:20.370661+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PON3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PON3",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:32:57.227570+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: POMK: ID is part of the phenotype.",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:30:33.791029+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMK as ready",
"entity_name": "POMK",
"entity_type": "gene"
}
]
}