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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2068",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2066",
"results": [
{
"created": "2019-12-06T09:17:59.693607+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIRREL3 were changed from to Intellectual disability",
"entity_name": "KIRREL3",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:17:37.997753+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIRREL3 were set to ",
"entity_name": "KIRREL3",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:17:21.346041+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIRREL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIRREL3",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:17:07.353442+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIRREL3 as Red List (low evidence)",
"entity_name": "KIRREL3",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:17:07.345715+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kirrel3 has been classified as Red List (Low Evidence).",
"entity_name": "KIRREL3",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:16:44.489195+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIRREL3: Rating: RED; Mode of pathogenicity: None; Publications: 19012874; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIRREL3",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:10:42.845587+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF21A as ready",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:10:42.838177+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif21a has been classified as Red List (Low Evidence).",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:10:21.233653+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF21A were changed from to Fibrosis of extraocular muscles, congenital, 1, MIM#135700",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:10:06.273422+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF21A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:09:58.459097+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF21A as Red List (low evidence)",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:09:58.451518+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif21a has been classified as Red List (Low Evidence).",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:09:45.653164+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF21A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrosis of extraocular muscles, congenital, 1, MIM#135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:07:52.402252+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF16B as ready",
"entity_name": "KIF16B",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:07:52.395088+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif16b has been classified as Red List (Low Evidence).",
"entity_name": "KIF16B",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:07:43.817728+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF16B were changed from to Intellectual disability",
"entity_name": "KIF16B",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:07:28.262903+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF16B were set to ",
"entity_name": "KIF16B",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:07:15.984761+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF16B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF16B",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:07:03.201296+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF16B as Red List (low evidence)",
"entity_name": "KIF16B",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:07:03.191815+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif16b has been classified as Red List (Low Evidence).",
"entity_name": "KIF16B",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:06:51.112802+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF16B: Rating: RED; Mode of pathogenicity: None; Publications: 29736960; Phenotypes: Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF16B",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:02:04.652592+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM6B as ready",
"entity_name": "KDM6B",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:02:04.645229+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm6b has been classified as Green List (High Evidence).",
"entity_name": "KDM6B",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:01:57.923844+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDM6B as Green List (high evidence)",
"entity_name": "KDM6B",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:01:57.916637+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm6b has been classified as Green List (High Evidence).",
"entity_name": "KDM6B",
"entity_type": "gene"
},
{
"created": "2019-12-06T09:01:42.525793+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM6B was added\ngene: KDM6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list\nMode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDM6B were set to 31124279\nPhenotypes for gene: KDM6B were set to Intellectual disability\nReview for gene: KDM6B was set to GREEN\nAdded comment: 12 unrelated individuals with de novo variants in this gene, no functional evidence reported but KDM6B involved in histone methylation. \nSources: Expert list",
"entity_name": "KDM6B",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:53:17.477292+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCTD13 as ready",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:53:17.470130+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kctd13 has been classified as Red List (Low Evidence).",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:53:10.771643+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCTD13 were changed from to Intellectual disability",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:52:56.390555+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCTD13 were set to ",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:52:42.596674+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCTD13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:52:33.350630+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCTD13 as Red List (low evidence)",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:52:33.342712+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kctd13 has been classified as Red List (Low Evidence).",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:52:20.514240+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCTD13: Rating: RED; Mode of pathogenicity: None; Publications: 22596160, 29088697; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:46:09.686297+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNMA1 as ready",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:46:09.674893+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnma1 has been classified as Green List (High Evidence).",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:46:05.912223+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNMA1 were changed from to Cerebellar atrophy, developmental delay, and seizures, MIM# 617643; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM#609446",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:45:47.977065+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNMA1 were set to ",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:45:34.406399+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNMA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:45:17.904056+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27567911, 29545233, 26195193, 31427379; Phenotypes: Cerebellar atrophy, developmental delay, and seizures, MIM# 617643, Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM#609446; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:37:27.395988+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ1 as ready",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:37:27.388720+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:37:23.061903+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ1 were changed from to Bartter syndrome, type 2, MIM#241200",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:37:11.467023+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:37:00.939545+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNJ1 as Amber List (moderate evidence)",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:37:00.931245+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2019-12-06T08:36:47.686297+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNJ1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 2, MIM#241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:52:29.943279+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCND3 as ready",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:52:29.932966+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnd3 has been classified as Red List (Low Evidence).",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:52:25.684224+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCND3 were changed from to Spinocerebellar ataxia 19, MIM#607346",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:52:13.430081+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCND3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:52:05.455236+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCND3 as Red List (low evidence)",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:52:05.385062+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnd3 has been classified as Red List (Low Evidence).",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:51:52.697082+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCND3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 19, MIM#607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:49:11.231879+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNC3 as ready",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:49:11.224145+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnc3 has been classified as Red List (Low Evidence).",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:49:04.271557+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNC3 were changed from to Spinocerebellar ataxia 13, MIM#605259",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:48:50.047250+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:48:38.942209+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNC3 as Red List (low evidence)",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:48:38.933648+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnc3 has been classified as Red List (Low Evidence).",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:48:22.592491+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 13, MIM#605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:43:12.954368+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KARS as ready",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:43:12.947146+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kars has been classified as Green List (High Evidence).",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:43:07.694106+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KARS as Green List (high evidence)",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:43:07.686943+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kars has been classified as Green List (High Evidence).",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2019-12-06T06:42:53.393567+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KARS was added\ngene: KARS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list\nMode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KARS were set to 26741492; 31618474; 28887846; 25330800; 29615062; 30252186; 28496994\nPhenotypes for gene: KARS were set to Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly\nReview for gene: KARS was set to GREEN\ngene: KARS was marked as current diagnostic\nAdded comment: Sources: Expert list",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2019-12-05T23:06:23.502649+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.534",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TREM2 as Red List (low evidence)",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2019-12-05T23:06:23.492809+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.534",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: trem2 has been classified as Red List (Low Evidence).",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2019-12-05T23:05:55.412294+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.533",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from TREM2.\nSource Expert list was added to TREM2.\nPhenotypes for gene: TREM2 were changed from to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2; OMIM #618193",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2019-12-05T23:05:37.393661+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.532",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TREM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM #618193; Mode of inheritance: Unknown",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2019-12-05T23:03:14.573974+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.532",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TRHR as Red List (low evidence)",
"entity_name": "TRHR",
"entity_type": "gene"
},
{
"created": "2019-12-05T23:03:14.566430+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.532",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: trhr has been classified as Red List (Low Evidence).",
"entity_name": "TRHR",
"entity_type": "gene"
},
{
"created": "2019-12-05T23:02:43.242518+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.531",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from TRHR.\nSource Expert list was added to TRHR.\nMode of inheritance for gene TRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRHR were changed from to Hypothyroidism, congenital, nongoitrous, 7; OMIM #618573",
"entity_name": "TRHR",
"entity_type": "gene"
},
{
"created": "2019-12-05T23:02:21.079393+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.530",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TRHR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, nongoitrous, 7, OMIM #618573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRHR",
"entity_type": "gene"
},
{
"created": "2019-12-05T23:00:22.536434+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.530",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TRIM37 as Red List (low evidence)",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2019-12-05T23:00:22.528741+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.530",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: trim37 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2019-12-05T23:00:02.853879+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.529",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from TRIM37.\nSource Expert list was added to TRIM37.\nMode of inheritance for gene TRIM37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM37 were changed from to Mulibrey nanism; OMIM #253250",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:59:41.026078+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.528",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TRIM37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mulibrey nanism, OMIM #253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:56:37.045461+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.527",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TRRAP as Green List (high evidence)",
"entity_name": "TRRAP",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:56:37.037694+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.527",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: trrap has been classified as Green List (High Evidence).",
"entity_name": "TRRAP",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:56:23.676824+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.526",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: TRRAP: 31 unrelated patients with global developmental delay and variably impaired intellectual development associated with de novo heterozygous mutations of TRRAP.",
"entity_name": "TRRAP",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:55:03.265027+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.526",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TRRAP was added\ngene: TRRAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list\nMode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRRAP were set to PubMed: 30827496\nPhenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism; OMIM #618454\nReview for gene: TRRAP was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "TRRAP",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:52:44.002260+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KANK1 as ready",
"entity_name": "KANK1",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:52:43.994834+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kank1 has been classified as Red List (Low Evidence).",
"entity_name": "KANK1",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:52:35.204004+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KANK1 were changed from to Nephrotic syndrome; Cerebral palsy, spastic quadriplegic, 2, MIM#612900",
"entity_name": "KANK1",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:52:14.920423+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KANK1 were set to ",
"entity_name": "KANK1",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:52:09.384547+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.525",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene TRMT1 were changed from PMID: 30289604; 26308914; 21937992 to PMID: 30289604; 26308914; 21937992",
"entity_name": "TRMT1",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:52:03.312439+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KANK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KANK1",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:51:55.562377+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KANK1 as Red List (low evidence)",
"entity_name": "KANK1",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:51:55.554373+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kank1 has been classified as Red List (Low Evidence).",
"entity_name": "KANK1",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:51:51.251215+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.524",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TRMT1",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:51:47.521118+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.524",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: TRMT1: Added comment: 4 families reported:\r\n-1 consanguineous Iranian family with 5 individuals with nonsyndromic moderate to severe impaired intellectual development.\r\n-1 consanguineous Iranian family with 3 adult brothers with global developmental delay and moderately delayed intellectual development\r\n-2 unrelated Pakistani families with 4 patients with impaired intellectual development.\r\nAll with homozygous mutations in the TRMT1 gene which segregated with the disorder in the families, but functional studies of the variants were not performed.; Changed publications: PMID: 30289604, 26308914, 21937992",
"entity_name": "TRMT1",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:51:34.416769+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KANK1: Rating: RED; Mode of pathogenicity: None; Publications: 25961457, 29729439, 30684669, 16301218; Phenotypes: Nephrotic syndrome, Cerebral palsy, spastic quadriplegic, 2, MIM#612900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KANK1",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:49:17.659396+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.524",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from TRMT1.\nSource Expert list was added to TRMT1.\nMode of inheritance for gene TRMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRMT1 were changed from to Mental retardation, autosomal recessive 68; OMIM #618302\nPublications for gene TRMT1 were changed from PMID: 30289604; 26308914 to PMID: 30289604; 26308914",
"entity_name": "TRMT1",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:48:56.555905+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.523",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TRMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30289604, 26308914; Phenotypes: Mental retardation, autosomal recessive 68, OMIM #618302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMT1",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:43:52.424618+11:00",
"panel_name": "Cerebral Palsy_VCGS",
"panel_id": 73,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KANK1 as ready",
"entity_name": "KANK1",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:43:52.417023+11:00",
"panel_name": "Cerebral Palsy_VCGS",
"panel_id": 73,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kank1 has been classified as Red List (Low Evidence).",
"entity_name": "KANK1",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:43:48.960014+11:00",
"panel_name": "Cerebral Palsy_VCGS",
"panel_id": 73,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KANK1 were changed from to Cerebral palsy, spastic quadriplegic, 2, MIM#612900",
"entity_name": "KANK1",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:43:25.550793+11:00",
"panel_name": "Cerebral Palsy_VCGS",
"panel_id": 73,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KANK1 were set to ",
"entity_name": "KANK1",
"entity_type": "gene"
},
{
"created": "2019-12-05T22:43:25.486900+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.523",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: TRNT1 were changed from Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; OMIM #616084 to Retinitis pigmentosa and erythrocytic microcytosis, OMIM #616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084",
"entity_name": "TRNT1",
"entity_type": "gene"
}
]
}