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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2073",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2071",
"results": [
{
"created": "2019-12-05T09:16:04.976743+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.350",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WDR37 as Green List (high evidence)",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:16:04.968909+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.350",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wdr37 has been classified as Green List (High Evidence).",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:15:53.980081+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.349",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: WDR37: 9 unrelated patients reported, with functional studies.",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:14:40.685193+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.349",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: WDR37 was added\ngene: WDR37 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list\nMode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WDR37 were set to PubMed: 31327508; 31327510\nPhenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome; OMIM #618652\nReview for gene: WDR37 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:13:07.188743+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.348",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: WNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26671912; Phenotypes: Osteogenesis imperfecta, type XV, OMIM# 615220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:11:21.104207+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.348",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from WNT1.\nSource Expert list was added to WNT1.\nMode of inheritance for gene WNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNT1 were changed from to Osteogenesis imperfecta, type XV; OMIM# 615220",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:10:20.652783+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.347",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from WNT5A.\nSource Expert list was added to WNT5A.\nMode of inheritance for gene WNT5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: WNT5A were changed from to Robinow syndrome, autosomal dominant 1; OMIM# 180700",
"entity_name": "WNT5A",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:10:00.468207+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.346",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: WNT5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal dominant 1, OMIM# 180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WNT5A",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:09:35.326647+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.346",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "WNT5A",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:09:26.690497+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.346",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: WNT5A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal dominant 1, OMIM# 180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WNT5A",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:07:55.793352+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.346",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene WRAP53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:07:43.922825+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.345",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from WRAP53.\nSource Expert list was added to WRAP53.\nPhenotypes for gene: WRAP53 were changed from to Dyskeratosis congenita, autosomal recessive 3; OMIM# 613988",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:07:10.142692+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.344",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WRAP53 as Red List (low evidence)",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:07:10.134295+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.344",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wrap53 has been classified as Red List (Low Evidence).",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:06:58.235912+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.343",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, OMIM# 613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:29:13.993115+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADHB as ready",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:29:13.985593+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadhb has been classified as Green List (High Evidence).",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:29:09.192076+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, MIM#609015",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:28:56.944511+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HADHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:28:44.205018+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trifunctional protein deficiency, MIM#609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:26:05.096186+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADH as ready",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:26:05.088711+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadh has been classified as Red List (Low Evidence).",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:25:57.906815+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HADH were changed from to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:25:43.451447+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HADH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:25:37.134764+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HADH as Red List (low evidence)",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:25:37.127788+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadh has been classified as Red List (Low Evidence).",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:25:25.330377+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HADH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530, Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:22:07.379076+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: H3F3B as ready",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:22:07.371678+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h3f3b has been classified as Red List (Low Evidence).",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:22:01.320792+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: H3F3B as Red List (low evidence)",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:22:01.308608+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h3f3b has been classified as Red List (Low Evidence).",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:17:53.312755+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: H19 as ready",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:17:53.305748+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h19 has been classified as Red List (Low Evidence).",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:17:18.313698+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: H19 were changed from to Beckwith-Wiedemann syndrome, MIM#130650; Silver-Russell syndrome, MIM#180860",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:17:04.904204+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: H19 as Red List (low evidence)",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:17:04.888557+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h19 has been classified as Red List (Low Evidence).",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2019-12-05T08:16:52.479250+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: H19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, MIM#130650, Silver-Russell syndrome, MIM#180860; Mode of inheritance: None",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:55:05.828819+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GYS2 as ready",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:55:05.821470+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gys2 has been classified as Red List (Low Evidence).",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:55:01.397837+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GYS2 were changed from to Glycogen storage disease 0, liver, MIM#240600",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:54:49.628224+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GYS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:54:42.505898+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GYS2 as Red List (low evidence)",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:54:42.498954+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gys2 has been classified as Red List (Low Evidence).",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:54:31.560946+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GYS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease 0, liver, MIM#240600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:52:54.584064+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTF2IRD1 as ready",
"entity_name": "GTF2IRD1",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:52:54.576681+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2ird1 has been classified as Red List (Low Evidence).",
"entity_name": "GTF2IRD1",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:52:48.233708+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GTF2IRD1 were set to ",
"entity_name": "GTF2IRD1",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:52:36.898254+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GTF2IRD1 as Red List (low evidence)",
"entity_name": "GTF2IRD1",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:52:36.890845+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2ird1 has been classified as Red List (Low Evidence).",
"entity_name": "GTF2IRD1",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:52:23.413873+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GTF2IRD1: Rating: RED; Mode of pathogenicity: None; Publications: 31418010; Phenotypes: ; Mode of inheritance: None",
"entity_name": "GTF2IRD1",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:49:10.527916+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTF2I as ready",
"entity_name": "GTF2I",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:49:10.519683+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2i has been classified as Red List (Low Evidence).",
"entity_name": "GTF2I",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:49:05.445574+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GTF2I as Red List (low evidence)",
"entity_name": "GTF2I",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:49:05.436946+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2i has been classified as Red List (Low Evidence).",
"entity_name": "GTF2I",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:48:53.969025+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GTF2I: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "GTF2I",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:44:15.190777+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSPT2 as ready",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:44:15.183489+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gspt2 has been classified as Red List (Low Evidence).",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:44:08.880076+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GSPT2 were set to ",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:43:56.432511+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GSPT2 as Red List (low evidence)",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:43:56.424912+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gspt2 has been classified as Red List (Low Evidence).",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:43:44.502114+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GSPT2: Rating: RED; Mode of pathogenicity: None; Publications: 28414775; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:41:16.877231+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRPR as ready",
"entity_name": "GRPR",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:41:16.869668+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grpr has been classified as Red List (Low Evidence).",
"entity_name": "GRPR",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:41:11.903555+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRPR as Red List (low evidence)",
"entity_name": "GRPR",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:41:11.895760+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grpr has been classified as Red List (Low Evidence).",
"entity_name": "GRPR",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:40:58.943746+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRPR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "GRPR",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:35:37.032781+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPSM2 as ready",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:35:37.025477+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpsm2 has been classified as Red List (Low Evidence).",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:35:32.755796+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPSM2 were changed from to Chudley-McCullough syndrome, MIM#604213",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:35:20.327393+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPSM2 as Red List (low evidence)",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:35:20.320147+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpsm2 has been classified as Red List (Low Evidence).",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:35:08.281683+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPSM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chudley-McCullough syndrome, MIM#604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:31:31.775874+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPHN as ready",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:31:31.768581+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gphn has been classified as Green List (High Evidence).",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:31:11.802135+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPHN were changed from to Molybdenum cofactor deficiency C, MIM#615501",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:30:56.590117+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPHN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:30:41.104583+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPHN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency C, MIM#615501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:28:23.333623+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GOSR2 as ready",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:28:23.326296+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gosr2 has been classified as Red List (Low Evidence).",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:28:18.686039+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GOSR2 were changed from to Epilepsy, progressive myoclonic 6, MIM#614018",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:28:01.782753+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GOSR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:27:52.147640+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GOSR2 as Red List (low evidence)",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:27:52.140126+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gosr2 has been classified as Red List (Low Evidence).",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:27:39.346494+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 6, MIM#614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:25:15.331247+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GORAB as ready",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:25:15.323875+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gorab has been classified as Green List (High Evidence).",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:25:05.569029+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GORAB were changed from to Geroderma osteodysplasticum, MIM#231070",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:24:52.453999+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GORAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:24:32.911555+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Geroderma osteodysplasticum, MIM#231070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:21:57.284230+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GORAB as ready",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:21:57.276943+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gorab has been classified as Green List (High Evidence).",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:21:52.287450+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GORAB were changed from to Geroderma osteodysplasticum, MIM#231070",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:21:36.158267+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GORAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:21:19.467397+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Geroderma osteodysplasticum, MIM#231070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:12:58.214326+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNE as ready",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:12:58.195351+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gne has been classified as Green List (High Evidence).",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:12:53.667885+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNE were changed from to Sialuria, MIM#269921",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:12:37.602634+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-12-05T06:12:23.532132+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialuria, MIM#269921; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-12-05T00:14:30.936992+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.315",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: ZNF462 as Green List (high evidence)",
"entity_name": "ZNF462",
"entity_type": "gene"
}
]
}