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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1906",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1904",
"results": [
{
"created": "2020-03-11T09:30:39.147059+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CXorf56 as Green List (high evidence)",
"entity_name": "CXorf56",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:30:39.133630+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cxorf56 has been classified as Green List (High Evidence).",
"entity_name": "CXorf56",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:30:06.194182+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CXorf56: Added comment: Additional report of three more families, upgrade to Green.; Changed rating: GREEN; Changed publications: 29374277, 31822863; Changed phenotypes: Mental retardation, X-linked 107, MIM# 301013",
"entity_name": "CXorf56",
"entity_type": "gene"
},
{
"created": "2020-03-10T21:56:39.406232+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IFT43 as ready",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2020-03-10T21:56:39.396850+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ift43 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2020-03-10T21:56:36.473839+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IFT43 as Amber List (moderate evidence)",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2020-03-10T21:56:36.460727+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ift43 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2020-03-10T21:56:22.545364+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IFT43 was added\ngene: IFT43 was added to Ectodermal Dysplasia_RMH. Sources: Expert list\nMode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT43 were set to 21378380; 29896747\nPhenotypes for gene: IFT43 were set to Cranioectodermal dysplasia 3 MIM#614099\nReview for gene: IFT43 was set to AMBER\nAdded comment: Two unrelated families with cranioectodermal dysplasia and the same variant, p.M1V. The gene is also associated with short-rib thoracic dysplasia, which is also a gene list. \nSources: Expert list",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2020-03-10T21:15:47.581273+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNR as ready",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2020-03-10T21:15:47.572576+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnr has been classified as Green List (High Evidence).",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2020-03-10T21:14:56.558770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNR as Green List (high evidence)",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2020-03-10T21:14:56.545233+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnr has been classified as Green List (High Evidence).",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2020-03-10T21:14:00.262319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNR was added\ngene: TNR was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TNR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNR were set to 32099069\nPhenotypes for gene: TNR were set to Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus\nReview for gene: TNR was set to GREEN\nAdded comment: 13 individuals from 8 unrelated families reported. \nSources: Literature",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2020-03-10T21:12:32.570294+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNR as ready",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2020-03-10T21:12:32.556979+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnr has been classified as Green List (High Evidence).",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2020-03-10T20:47:02.690265+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CTNND1 as ready",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-03-10T20:47:02.676065+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ctnnd1 has been classified as Green List (High Evidence).",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-03-10T20:47:00.361946+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CTNND1 as Green List (high evidence)",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-03-10T20:47:00.352715+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ctnnd1 has been classified as Green List (High Evidence).",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-03-10T20:46:51.520477+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CTNND1 was added\ngene: CTNND1 was added to Ectodermal Dysplasia_RMH. Sources: Expert list\nMode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTNND1 were set to 28301459\nPhenotypes for gene: CTNND1 were set to Blepharocheilodontic syndrome 2 MIM#617681\nReview for gene: CTNND1 was set to GREEN\nAdded comment: Ectodermal dysplasia is a feature of the condition. Four cases from three unrelated families. \nSources: Expert list",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-03-10T20:40:45.435225+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNR as Green List (high evidence)",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2020-03-10T20:40:45.426527+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnr has been classified as Green List (High Evidence).",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2020-03-10T20:40:16.672566+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNR was added\ngene: TNR was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: TNR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNR were set to 32099069\nPhenotypes for gene: TNR were set to Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus\nReview for gene: TNR was set to GREEN\nAdded comment: 13 individuals from 8 unrelated families reported. \nSources: Expert list",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2020-03-10T20:38:56.226525+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNR as ready",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2020-03-10T20:38:56.217828+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnr has been classified as Green List (High Evidence).",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2020-03-10T20:19:32.479753+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CHD1 as ready",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2020-03-10T20:19:32.467073+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: chd1 has been classified as Green List (High Evidence).",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2020-03-10T20:19:29.711704+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CHD1 as Green List (high evidence)",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2020-03-10T20:19:29.702887+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: chd1 has been classified as Green List (High Evidence).",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2020-03-10T20:19:19.472121+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CHD1 was added\ngene: CHD1 was added to Ectodermal Dysplasia_RMH. Sources: Expert list\nMode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHD1 were set to 28866611\nPhenotypes for gene: CHD1 were set to Pilarowski-Bjornsson syndrome MIM#617682\nReview for gene: CHD1 was set to GREEN\nAdded comment: Phenotype includes at least two ectodermal structures: translucent skin and cranial-facial feature. >3 cases with mostly de novo variants. \nSources: Expert list",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:34:58.842614+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNR as Green List (high evidence)",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:34:58.829181+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnr has been classified as Green List (High Evidence).",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:34:28.198804+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNR was added\ngene: TNR was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: TNR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNR were set to 32099069\nPhenotypes for gene: TNR were set to Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus\nReview for gene: TNR was set to GREEN\nAdded comment: 13 individuals from 8 unrelated families reported. \nSources: Expert list",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:26:06.397024+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPRY1 as ready",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:26:06.388295+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspry1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:26:00.408957+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RSPRY1 as Amber List (moderate evidence)",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:26:00.400100+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspry1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:25:31.109263+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPRY1 was added\ngene: RSPRY1 was added to Skeletal dysplasia. Sources: Expert list\nMode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RSPRY1 were set to 26365341\nPhenotypes for gene: RSPRY1 were set to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585\nReview for gene: RSPRY1 was set to AMBER\nAdded comment: Two unrelated individuals reported, some functional evidence. \nSources: Expert list",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:24:04.761135+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPRY1 as ready",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:24:04.748160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspry1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:23:57.405693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPRY1 were changed from to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:23:41.956714+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPRY1 were set to ",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:23:26.979405+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RSPRY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:23:13.644994+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RSPRY1 as Amber List (moderate evidence)",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:23:13.631901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspry1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:22:54.116777+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated individuals reported, some functional evidence. \nSources: Expert list; to: Two unrelated individuals reported, some functional evidence. Dev delay/autism part of the phenotype.\r\nSources: Expert list",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:22:32.341587+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RSPRY1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365341; Phenotypes: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:21:56.364341+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RSPRY1 as Amber List (moderate evidence)",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:21:56.351785+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspry1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:21:21.991755+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPRY1 was added\ngene: RSPRY1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RSPRY1 were set to 26365341\nPhenotypes for gene: RSPRY1 were set to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585\nReview for gene: RSPRY1 was set to AMBER\nAdded comment: Two unrelated individuals reported, some functional evidence. \nSources: Expert list",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:09:19.636859+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS23 as ready",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:09:19.628752+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:05:11.621309+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS23 were changed from to Brachycephaly, trichomegaly, and developmental delay, MIM# 617412",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:03:13.878644+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS23 were set to ",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:02:44.344319+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPS23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:00:25.737726+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPS23 as Amber List (moderate evidence)",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T19:00:25.729065+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:59:57.045903+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS23: Rating: AMBER; Mode of pathogenicity: None; Publications: 28257692; Phenotypes: Brachycephaly, trichomegaly, and developmental delay, MIM# 617412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:59:24.301822+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS23 were changed from Brachycephaly, trichomegaly, and developmental delay, MIM# 617412 to Brachycephaly, trichomegaly, and developmental delay, MIM# 617412",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:59:16.987376+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS23 as ready",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:59:16.972729+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:59:06.891427+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS23 as ready",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:59:06.882296+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:59:03.298676+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS23 were changed from to Brachycephaly, trichomegaly, and developmental delay, MIM# 617412",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:58:44.301612+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS23 were changed from to Brachycephaly, trichomegaly, and developmental delay, MIM# 617412",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:58:25.785215+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS23 were set to 28257692",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:58:07.154037+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS23 were set to ",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:57:54.645283+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS23 were set to ",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:57:45.369716+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPS23 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:57:33.994499+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPS23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:57:11.053701+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPS23 as Amber List (moderate evidence)",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:57:11.044656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:56:49.942622+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS23: Rating: AMBER; Mode of pathogenicity: None; Publications: 28257692; Phenotypes: Brachycephaly, trichomegaly, and developmental delay, MIM# 617412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:56:40.629193+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPS23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:55:48.897159+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPS23 as Amber List (moderate evidence)",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:55:48.888616+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T18:55:14.670197+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS23: Rating: AMBER; Mode of pathogenicity: None; Publications: 28257692; Phenotypes: Brachycephaly, trichomegaly, and developmental delay, MIM# 617412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2020-03-10T16:28:53.755943+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF13 as ready",
"entity_name": "RNF13",
"entity_type": "gene"
},
{
"created": "2020-03-10T16:28:53.741846+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf13 has been classified as Green List (High Evidence).",
"entity_name": "RNF13",
"entity_type": "gene"
},
{
"created": "2020-03-10T16:24:52.738874+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNF13 as Green List (high evidence)",
"entity_name": "RNF13",
"entity_type": "gene"
},
{
"created": "2020-03-10T16:24:52.730133+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf13 has been classified as Green List (High Evidence).",
"entity_name": "RNF13",
"entity_type": "gene"
},
{
"created": "2020-03-10T16:23:03.615915+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNF13 was added\ngene: RNF13 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNF13 were set to 30595371\nPhenotypes for gene: RNF13 were set to Epileptic encephalopathy, early infantile, 73\t618379\nMode of pathogenicity for gene: RNF13 was set to Other\nReview for gene: RNF13 was set to GREEN\nAdded comment: Three unrelated individuals with de novo variants in this gene and severe neurological phenotype, including microcephaly, seizures, visual impairment, profound developmental delay. \nSources: Expert list",
"entity_name": "RNF13",
"entity_type": "gene"
},
{
"created": "2020-03-10T16:17:08.568622+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIMS1 were changed from to Autism",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2020-03-10T16:16:37.362081+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RIMS1 were set to ",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2020-03-10T16:16:15.922007+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RIMS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2020-03-10T16:15:46.459859+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RIMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25284784, 25961944; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2020-03-10T16:11:28.458105+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIMS1 as ready",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2020-03-10T16:11:28.444864+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rims1 has been classified as Red List (Low Evidence).",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2020-03-10T16:10:52.856679+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIMS1 were changed from to Autism; Cone-rod dystrophy 7 , MIM#603649",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2020-03-10T16:10:02.984994+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RIMS1 were set to ",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2020-03-10T16:09:36.189083+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RIMS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2020-03-10T16:08:24.144580+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIMS1 as Red List (low evidence)",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2020-03-10T16:08:24.131654+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rims1 has been classified as Red List (Low Evidence).",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2020-03-10T16:07:44.881135+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RIMS1: Rating: RED; Mode of pathogenicity: None; Publications: 25284784, 12659814; Phenotypes: Autism, Cone-rod dystrophy 7 , MIM#603649; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2020-03-10T15:50:57.387403+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHEB as ready",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2020-03-10T15:50:57.374108+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rheb has been classified as Green List (High Evidence).",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2020-03-10T15:50:53.326998+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RHEB were changed from to Intellectual disability; Macrocephaly; Focal cortical dysplasia",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2020-03-10T15:50:20.202560+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RHEB were set to ",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2020-03-10T15:49:07.647521+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RHEB was changed from Unknown to Other",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2020-03-10T15:48:09.691380+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RHEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31337748, 29051493; Phenotypes: Intellectual disability, Macrocephaly, Focal cortical dysplasia; Mode of inheritance: Other",
"entity_name": "RHEB",
"entity_type": "gene"
}
]
}