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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2054",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2052",
"results": [
{
"created": "2019-12-10T07:52:37.081486+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RUBCN as ready",
"entity_name": "RUBCN",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:52:37.074416+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rubcn has been classified as Red List (Low Evidence).",
"entity_name": "RUBCN",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:52:30.298201+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RUBCN were changed from to Spinocerebellar ataxia, autosomal recessive 15, MIM#615705",
"entity_name": "RUBCN",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:52:18.278694+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RUBCN were set to ",
"entity_name": "RUBCN",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:52:07.327014+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RUBCN as Red List (low evidence)",
"entity_name": "RUBCN",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:52:07.319550+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rubcn has been classified as Red List (Low Evidence).",
"entity_name": "RUBCN",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:51:54.280392+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RUBCN: Rating: RED; Mode of pathogenicity: None; Publications: 30237576, 20826435, 23728897; Phenotypes: Spinocerebellar ataxia, autosomal recessive 15, MIM#615705; Mode of inheritance: None",
"entity_name": "RUBCN",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:47:24.342187+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RTN4IP1 were changed from to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:47:16.271174+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RTN4IP1 were set to ",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:47:07.920334+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:46:53.842171+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26593267; Phenotypes: Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:43:45.857917+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS28 as ready",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:43:45.850650+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps28 has been classified as Red List (Low Evidence).",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:43:40.567807+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS28 were changed from to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM#606164",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:43:30.357683+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPS28 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:43:19.391945+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPS28 as Red List (low evidence)",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:43:19.383674+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps28 has been classified as Red List (Low Evidence).",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:43:07.319582+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS28: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM#606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:40:28.371402+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS19 as ready",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:40:28.363949+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps19 has been classified as Red List (Low Evidence).",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:40:19.491381+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS19 were changed from to Diamond-Blackfan anemia 1, MIM#105650",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:40:13.266652+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPS19 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:38:26.765969+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPS19 as Red List (low evidence)",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:38:26.758479+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps19 has been classified as Red List (Low Evidence).",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:38:13.370278+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 1, MIM#105650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:35:12.653723+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL11 as ready",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:35:12.646156+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl11 has been classified as Red List (Low Evidence).",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:35:06.236540+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL11 were changed from to Diamond-Blackfan anemia 7, MIM#612562",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:34:53.893904+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:34:47.446814+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL11 as Red List (low evidence)",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:34:47.439252+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl11 has been classified as Red List (Low Evidence).",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:34:35.239169+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 7, MIM#612562; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:31:42.524469+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RORA as ready",
"entity_name": "RORA",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:31:42.516904+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rora has been classified as Green List (High Evidence).",
"entity_name": "RORA",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:31:35.404267+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RORA as Green List (high evidence)",
"entity_name": "RORA",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:31:35.396819+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rora has been classified as Green List (High Evidence).",
"entity_name": "RORA",
"entity_type": "gene"
},
{
"created": "2019-12-10T07:31:22.958456+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RORA was added\ngene: RORA was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RORA were set to 29656859\nPhenotypes for gene: RORA were set to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM#618060\nMode of pathogenicity for gene: RORA was set to Other\nReview for gene: RORA was set to GREEN\nAdded comment: Eleven unrelated individuals with de novo variants in this gene; postulated that some variants exert dominant-negative effect resulting in a more severe phenotype than the LoF variants. \nSources: Expert list",
"entity_name": "RORA",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:38:51.995922+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU4ATAC as ready",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:38:51.988343+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu4atac has been classified as Green List (High Evidence).",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:38:33.856942+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from to Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710; Roifman syndrome, MIM#616651",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:38:21.470315+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNU4ATAC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:38:04.127892+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710, Roifman syndrome, MIM#616651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:32:17.666900+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RMRP as ready",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:32:17.659519+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rmrp has been classified as Amber List (Moderate Evidence).",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:32:13.883442+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RMRP were changed from to Anauxetic dysplasia 1, MIM#607095",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:32:07.309708+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RMRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:31:01.555681+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RMRP as Amber List (moderate evidence)",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:31:01.545007+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rmrp has been classified as Amber List (Moderate Evidence).",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:30:49.160081+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RMRP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Anauxetic dysplasia 1, MIM#607095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:25:24.438945+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIN2 as ready",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:25:24.431243+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rin2 has been classified as Red List (Low Evidence).",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:25:20.329309+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIN2 were changed from to Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:25:12.709934+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RIN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:24:15.818569+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIN2 as Red List (low evidence)",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:24:15.811055+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rin2 has been classified as Red List (Low Evidence).",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:24:01.737566+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RIN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:18:52.121929+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHOBTB2 as ready",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:18:52.114540+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhobtb2 has been classified as Green List (High Evidence).",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:18:46.681337+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RHOBTB2 were changed from to Epileptic encephalopathy, early infantile, 64, MIM#618004",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:18:25.967305+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RHOBTB2 were set to ",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:18:04.722735+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RHOBTB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:17:28.235671+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29768694, 29276004; Phenotypes: Epileptic encephalopathy, early infantile, 64, MIM#618004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:16:00.764835+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHOBTB2 as ready",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:16:00.756718+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhobtb2 has been classified as Green List (High Evidence).",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:15:53.199744+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RHOBTB2 as Green List (high evidence)",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:15:53.191874+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhobtb2 has been classified as Green List (High Evidence).",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:15:39.650184+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RHOBTB2 was added\ngene: RHOBTB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RHOBTB2 were set to 29768694; 29276004\nPhenotypes for gene: RHOBTB2 were set to Epileptic encephalopathy, early infantile, 64, MIM#618004\nReview for gene: RHOBTB2 was set to GREEN\nAdded comment: 13 individuals from unrelated families reported in the literature in 2018 with de novo variants in this gene and ID/EE. \nSources: Literature",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:10:24.156069+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFX6 as ready",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:10:24.091221+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfx6 has been classified as Red List (Low Evidence).",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:10:17.439826+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFX6 were changed from to Mitchell-Riley syndrome, MIM#615710",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:10:02.493840+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RFX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:09:54.763559+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RFX6 as Red List (low evidence)",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:09:54.755449+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfx6 has been classified as Red List (Low Evidence).",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:08:34.310608+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RFX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitchell-Riley syndrome, MIM#615710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:06:56.326676+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RET as ready",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:06:56.319194+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ret has been classified as Red List (Low Evidence).",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:06:42.745058+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RET were changed from to Central hypoventilation syndrome, congenital, MIM#209880; Medullary thyroid carcinoma, MIM#155240; Multiple endocrine neoplasia IIA, MIM#171400; Multiple endocrine neoplasia IIB, MIM#162300",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:06:30.286623+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:06:22.822357+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RET as Red List (low evidence)",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:06:22.814886+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ret has been classified as Red List (Low Evidence).",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:06:10.822315+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RET: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, congenital, MIM#209880, Medullary thyroid carcinoma, MIM#155240, Multiple endocrine neoplasia IIA, MIM#171400, Multiple endocrine neoplasia IIB, MIM#162300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:02:46.595511+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RECQL4 as ready",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:02:46.588341+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: recql4 has been classified as Red List (Low Evidence).",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:02:41.650578+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RECQL4 were changed from to Baller-Gerold syndrome, MIM#218600; RAPADILINO syndrome, MIM#266280; Rothmund-Thomson syndrome, type 2,MIM#268400",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:02:29.724497+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RECQL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:02:19.008239+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RECQL4 as Red List (low evidence)",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:02:19.000824+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: recql4 has been classified as Red List (Low Evidence).",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2019-12-10T06:02:05.895951+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RECQL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Baller-Gerold syndrome, MIM#218600, RAPADILINO syndrome, MIM#266280, Rothmund-Thomson syndrome, type 2,MIM#268400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2019-12-10T05:56:07.946976+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBPJ as ready",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2019-12-10T05:56:07.939363+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbpj has been classified as Red List (Low Evidence).",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2019-12-10T05:56:01.280323+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBPJ were changed from to Adams-Oliver syndrome 3, MIM#614814",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2019-12-10T05:55:49.905706+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBPJ were set to ",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2019-12-10T05:55:36.736202+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBPJ as Red List (low evidence)",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2019-12-10T05:55:36.729136+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbpj has been classified as Red List (Low Evidence).",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2019-12-10T05:55:22.836372+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RBPJ: Rating: RED; Mode of pathogenicity: None; Publications: 22883147, 29924900; Phenotypes: Adams-Oliver syndrome 3, MIM#614814; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2019-12-10T05:48:28.103199+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBM8A as ready",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-12-10T05:48:28.094781+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm8a has been classified as Red List (Low Evidence).",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-12-10T05:48:23.599928+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBM8A were changed from to Thrombocytopenia-absent radius syndrome, MIM#274000",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-12-10T05:48:11.369061+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RBM8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-12-10T05:48:00.116265+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBM8A as Red List (low evidence)",
"entity_name": "RBM8A",
"entity_type": "gene"
}
]
}