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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2059",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2057",
"results": [
{
"created": "2019-12-08T18:12:03.613523+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCDH12 were set to ",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:11:50.000669+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCDH12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:11:35.859858+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27164683, 30178464; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM#251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:08:03.476767+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCBD1 were changed from to Hyperphenylalaninemia, BH4-deficient, D, MIM#264070",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:07:51.198552+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCBD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:07:44.039521+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCBD1 as Red List (low evidence)",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:07:44.030623+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcbd1 has been classified as Red List (Low Evidence).",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:07:30.149891+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCBD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, D, MIM#264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:05:55.422542+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX3 as ready",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:05:55.415309+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax3 has been classified as Red List (Low Evidence).",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:05:50.905836+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX3 were changed from to Craniofacial-deafness-hand syndrome, MIM#122880; Waardenburg syndrome, type 1, MIM#193500; Waardenburg syndrome, type 3, MIM#148820",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:05:41.315023+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:05:33.450326+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAX3 as Red List (low evidence)",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:05:33.442899+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax3 has been classified as Red List (Low Evidence).",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:05:21.573142+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofacial-deafness-hand syndrome, MIM#122880, Waardenburg syndrome, type 1, MIM#193500, Waardenburg syndrome, type 3, MIM#148820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:02:54.214870+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX2 as ready",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:02:54.204054+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax2 has been classified as Red List (Low Evidence).",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:02:50.173689+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, MIM#120330",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:02:39.172500+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:02:32.225468+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAX2 as Red List (low evidence)",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:02:32.218563+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax2 has been classified as Red List (Low Evidence).",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:02:19.155918+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Papillorenal syndrome, MIM#120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:00:31.403829+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PANK2 as ready",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:00:31.396155+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pank2 has been classified as Red List (Low Evidence).",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:00:27.435328+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PANK2 were changed from to Neurodegeneration with brain iron accumulation 1, MIM#234200",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:00:15.290597+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PANK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:00:04.149364+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PANK2 as Red List (low evidence)",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:00:04.141182+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pank2 has been classified as Red List (Low Evidence).",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2019-12-08T17:59:50.275388+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 1, MIM#234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2019-12-08T17:57:07.907851+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAM16 as ready",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2019-12-08T17:57:07.900043+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pam16 has been classified as Green List (High Evidence).",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2019-12-08T17:56:56.361979+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAM16 were changed from to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2019-12-08T17:56:44.726497+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAM16 were set to ",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2019-12-08T17:56:30.311450+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAM16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2019-12-08T17:56:07.698712+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 24786642, 27354339; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2019-12-08T17:51:01.704363+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PACS2 as ready",
"entity_name": "PACS2",
"entity_type": "gene"
},
{
"created": "2019-12-08T17:51:01.696444+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacs2 has been classified as Green List (High Evidence).",
"entity_name": "PACS2",
"entity_type": "gene"
},
{
"created": "2019-12-08T17:50:56.032043+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PACS2 were changed from to Epileptic encephalopathy, early infantile, 66, MIM#618067",
"entity_name": "PACS2",
"entity_type": "gene"
},
{
"created": "2019-12-08T17:50:44.668615+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PACS2 were set to ",
"entity_name": "PACS2",
"entity_type": "gene"
},
{
"created": "2019-12-08T17:50:34.659253+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PACS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PACS2",
"entity_type": "gene"
},
{
"created": "2019-12-08T17:50:19.881044+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656858; Phenotypes: Epileptic encephalopathy, early infantile, 66, MIM#618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PACS2",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:24:34.457199+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.895",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Intellectual disability, syndromic and non-syndromic_GHQ to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-08T15:16:41.927860+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP62 as Green List (high evidence)",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:16:41.920501+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup62 has been classified as Green List (High Evidence).",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:16:16.317240+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP62 as Green List (high evidence)",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:16:16.308436+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup62 has been classified as Green List (High Evidence).",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:16:12.166396+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP62 as ready",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:16:12.156206+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup62 has been classified as Red List (Low Evidence).",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:15:46.992011+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP62 was added\ngene: NUP62 was added to Regression_VCGS. Sources: Expert Review\nMode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP62 were set to 16786527\nPhenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile, MIM#271930\nReview for gene: NUP62 was set to GREEN\nAdded comment: Multiple affected individuals, variable age of onset, may be after a viral trigger. \nSources: Expert Review",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:14:52.557262+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:14:24.374857+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP62 as ready",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:14:24.371728+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Multiple affected individuals, age of onset variable, may be after viral trigger.",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:14:24.353497+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup62 has been classified as Red List (Low Evidence).",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:14:02.738055+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUP62 were set to ",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:12:21.140396+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP62 were changed from to Striatonigral degeneration, infantile, MIM#271930",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:12:10.099840+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NUP62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:12:03.103529+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP62 as Red List (low evidence)",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:12:03.095739+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup62 has been classified as Red List (Low Evidence).",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:11:50.910829+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NUP62: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Striatonigral degeneration, infantile, MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:08:51.302315+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRXN2 as ready",
"entity_name": "NRXN2",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:08:51.294614+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrxn2 has been classified as Red List (Low Evidence).",
"entity_name": "NRXN2",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:08:46.719405+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NRXN2 were changed from to Autism",
"entity_name": "NRXN2",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:08:38.477149+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NRXN2 were set to ",
"entity_name": "NRXN2",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:08:31.878759+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NRXN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NRXN2",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:08:11.800425+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NRXN2 as Red List (low evidence)",
"entity_name": "NRXN2",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:08:11.792545+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrxn2 has been classified as Red List (Low Evidence).",
"entity_name": "NRXN2",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:08:00.433952+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NRXN2: Rating: RED; Mode of pathogenicity: None; Publications: 21424692, 30709877, 25745399; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NRXN2",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:02:29.165127+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR4A2 as ready",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:02:29.157899+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr4a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:02:24.564310+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR4A2 were changed from to Intellectual disability; rolandic epilepsy; autism",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:02:16.333438+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR4A2 were set to ",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:02:08.224523+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR4A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:02:01.339505+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NR4A2 as Amber List (moderate evidence)",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:02:01.330715+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr4a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2019-12-08T15:01:48.601874+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR4A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31428396, 30504930, 29770430; Phenotypes: Intellectual disability, rolandic epilepsy, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2019-12-08T14:52:10.172288+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NIN as ready",
"entity_name": "NIN",
"entity_type": "gene"
},
{
"created": "2019-12-08T14:52:10.164271+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nin has been classified as Red List (Low Evidence).",
"entity_name": "NIN",
"entity_type": "gene"
},
{
"created": "2019-12-08T14:52:05.410146+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NIN were changed from to Seckel syndrome 7, MIM#614851",
"entity_name": "NIN",
"entity_type": "gene"
},
{
"created": "2019-12-08T14:51:55.233443+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NIN were set to ",
"entity_name": "NIN",
"entity_type": "gene"
},
{
"created": "2019-12-08T14:51:42.128356+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NIN",
"entity_type": "gene"
},
{
"created": "2019-12-08T14:51:30.665827+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NIN as Red List (low evidence)",
"entity_name": "NIN",
"entity_type": "gene"
},
{
"created": "2019-12-08T14:51:30.657067+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nin has been classified as Red List (Low Evidence).",
"entity_name": "NIN",
"entity_type": "gene"
},
{
"created": "2019-12-08T14:46:29.163890+11:00",
"panel_name": "Aortopathy, Connective tissue disorder_VCGS",
"panel_id": 44,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPR3 as ready",
"entity_name": "NPR3",
"entity_type": "gene"
},
{
"created": "2019-12-08T14:46:29.156857+11:00",
"panel_name": "Aortopathy, Connective tissue disorder_VCGS",
"panel_id": 44,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npr3 has been classified as Green List (High Evidence).",
"entity_name": "NPR3",
"entity_type": "gene"
},
{
"created": "2019-12-08T14:46:25.184437+11:00",
"panel_name": "Aortopathy, Connective tissue disorder_VCGS",
"panel_id": 44,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NPR3 as Green List (high evidence)",
"entity_name": "NPR3",
"entity_type": "gene"
},
{
"created": "2019-12-08T14:46:25.177272+11:00",
"panel_name": "Aortopathy, Connective tissue disorder_VCGS",
"panel_id": 44,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npr3 has been classified as Green List (High Evidence).",
"entity_name": "NPR3",
"entity_type": "gene"
},
{
"created": "2019-12-08T14:45:59.074647+11:00",
"panel_name": "Aortopathy, Connective tissue disorder_VCGS",
"panel_id": 44,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPR3 was added\ngene: NPR3 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Literature\nMode of inheritance for gene: NPR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPR3 were set to 30032985\nPhenotypes for gene: NPR3 were set to Tall stature, skeletal abnormalities, aortic dilatation\nReview for gene: NPR3 was set to GREEN\nAdded comment: 4 individuals from three unrelated families. \nSources: Literature",
"entity_name": "NPR3",
"entity_type": "gene"
},
{
"created": "2019-12-08T14:43:27.616426+11:00",
"panel_name": "Overgrowth_VCGS",
"panel_id": 151,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPR3 as ready",
"entity_name": "NPR3",
"entity_type": "gene"
},
{
"created": "2019-12-08T14:43:27.608882+11:00",
"panel_name": "Overgrowth_VCGS",
"panel_id": 151,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npr3 has been classified as Green List (High Evidence).",
"entity_name": "NPR3",
"entity_type": "gene"
},
{
"created": "2019-12-08T14:43:14.525244+11:00",
"panel_name": "Overgrowth_VCGS",
"panel_id": 151,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPR3 were changed from to Tall stature, skeletal abnormalities, aortic dilatation",
"entity_name": "NPR3",
"entity_type": "gene"
},
{
"created": "2019-12-08T14:42:58.023519+11:00",
"panel_name": "Overgrowth_VCGS",
"panel_id": 151,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPR3 were set to ",
"entity_name": "NPR3",
"entity_type": "gene"
},
{
"created": "2019-12-08T14:42:41.415928+11:00",
"panel_name": "Overgrowth_VCGS",
"panel_id": 151,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPR3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPR3",
"entity_type": "gene"
},
{
"created": "2019-12-08T14:42:13.290129+11:00",
"panel_name": "Overgrowth_VCGS",
"panel_id": 151,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30032985; Phenotypes: Tall stature, skeletal abnormalities, aortic dilatation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPR3",
"entity_type": "gene"
},
{
"created": "2019-12-08T08:03:48.832159+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH3 as ready",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2019-12-08T08:03:48.825269+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch3 has been classified as Red List (Low Evidence).",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2019-12-08T08:03:44.191229+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH3 were changed from to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2019-12-08T08:03:27.616462+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOTCH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2019-12-08T08:03:14.872502+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOTCH3 as Red List (low evidence)",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2019-12-08T08:03:14.865324+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch3 has been classified as Red List (Low Evidence).",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2019-12-08T08:03:01.337276+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH3",
"entity_type": "gene"
}
]
}