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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1035",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1033",
"results": [
{
"created": "2022-01-21T08:34:08.756935+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAP3K20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 6 with fiber-type disproportion MIM#617760, Split-foot malformation with mesoaxial polydactyly MIM#616890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAP3K20",
"entity_type": "gene"
},
{
"created": "2022-01-21T08:30:15.900979+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCUBE3 as ready",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2022-01-21T08:30:15.884672+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scube3 has been classified as Green List (High Evidence).",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2022-01-21T08:30:11.127202+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCUBE3 as Green List (high evidence)",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2022-01-21T08:30:11.116069+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scube3 has been classified as Green List (High Evidence).",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2022-01-21T08:26:23.796829+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCUBE3 was added\ngene: SCUBE3 was added to Growth failure. Sources: Expert Review\nMode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCUBE3 were set to 33308444\nPhenotypes for gene: SCUBE3 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184; short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953\nReview for gene: SCUBE3 was set to GREEN\nAdded comment: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. Mouse model recapitulated phenotype. Can present with growth retardation antenatally. \nSources: Expert Review",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2022-01-21T08:24:55.204685+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCUBE3 as ready",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2022-01-21T08:24:55.195802+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scube3 has been classified as Green List (High Evidence).",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:50:34.053421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10698",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: HAND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26865696, 32134193, 26676105, 30217752, 20819618; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HAND2",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:49:08.356584+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.170",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: HAND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26865696, 32134193, 26676105, 30217752, 20819618; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HAND2",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:47:22.578708+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2597",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "edited their review of gene: HAND2: Added comment: No OMIM gene disease association. Borderline red-amber gene.\r\n\r\nPMID: 26676105 Lu et al 2016 - 145 unrelated patients with CHD, Han Chinese descent versus 200 unrelated controls had HAND2 gene sequencing. In x1 patient with ToF hetrozygous HAND2 c.140T>C p.L47P variant identified, parents unaffected, variant reported to be de novo but paternity not confirmed. Absent from gnomad, x1 het synonymous variant in this position only. Functional analysis showed reduced transcriptional activity\r\n\r\nPMID: 32134193 Cohen et al 2020 - 31-month-old male with unicommissural unicuspid aortic valve, moderate aortic stenosis, and mild pulmonic stenosis. CMA identified 546kb deletion on chr 4q34.1 (174364195-174910239[GRCh37/hg19]). Deletion encompasses exons 1 and 2 of SCRG1, HAND2, and HAND2-AS1. Deletion paternally inherited - proband's father had history of ToF. Novel deletion - no similar deletions in Decipher or DGV. Proband also had CHD7 VUS (c.2830C>T, p.Arg944Cys) – but no features of CHARGE syndrome and CHD7 variant present in 7 hets in gnomad\r\n\r\nPMID: 30217752 Liu et al 2019 - screened 206 unrelated Han Chinese patients with adult-onset idiopathic DCM and 300 unrelated controls. Identified HAND2 variant c.199G>T; p.(Glu67*). Authors report segregation of the variant with other affected individuals in the family including x2 with VSD/PDA\r\n\r\nPMID: 26865696 Sun et al 2016 - HAND2 sequenced in 192 unrelated Han Chinese patient. Het p.S65I variant identified in a patient with VSD and present in all 7 family members with CHD and absent from 13 unaffected members. \r\nVariant present in gnomad – 3 hets (x1 East Asian, x1 South Asian, x1 Latin American)\r\n\r\nPMID 20819618 - Shen et al 2010 131 unrelated Han Chinese patients with ToF had HAND2 gene sequencing. Het c.32C>G p.Pro11Arg identified in x2 unrelated patients – no seg, not in gnomad but in area of low coverage. \r\nc.42C>T – present in x1 patient with ToF + VSD – no segregation data, not in gnomad but in area of low coverage; Changed rating: AMBER; Changed publications: 26865696, 32134193, 26676105, 30217752, 20819618",
"entity_name": "HAND2",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:08:24.295154+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCYL1 as ready",
"entity_name": "SCYL1",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:08:24.284326+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scyl1 has been classified as Red List (Low Evidence).",
"entity_name": "SCYL1",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:08:10.783198+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCYL1 were changed from Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia to Spinocerebellar ataxia, autosomal recessive 21, MIM#\t616719",
"entity_name": "SCYL1",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:05:11.415711+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHANK2 as ready",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:05:11.405465+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank2 has been classified as Red List (Low Evidence).",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:05:07.205618+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK2 were changed from SUSCEPTIBILITY TO AUTISM TYPE 17 to {Autism susceptibility 17}, MIM#\t613436",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:03:50.476877+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHROOM3 as Amber List (moderate evidence)",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:03:50.466482+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shroom3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:03:39.668097+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHROOM3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:02:59.925043+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHROOM3 as ready",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:02:59.914729+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shroom3 has been classified as Red List (Low Evidence).",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:02:55.776961+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHROOM3 were changed from NEURAL TUBE DEFECT to Anencephaly; cleft lip and palate",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:02:38.555241+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHROOM3 as Red List (low evidence)",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:02:38.544569+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shroom3 has been classified as Red List (Low Evidence).",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:02:28.743095+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHROOM3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2022-01-20T21:02:06.275747+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHROOM3 were set to ",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:59:30.639705+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIN3A as ready",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:59:30.630324+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sin3a has been classified as Green List (High Evidence).",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:59:27.175071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIN3A as ready",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:59:27.164986+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sin3a has been classified as Green List (High Evidence).",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:59:20.831490+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIN3A were changed from to Witteveen-Kolk syndrome, OMIM # 613406",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:59:16.151377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIN3A were changed from to Witteveen-Kolk syndrome, OMIM # 613406",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:58:54.262792+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIN3A were set to ",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:58:21.229492+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIN3A were set to ",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:58:11.274600+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIN3A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:57:56.927938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIN3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:57:27.329572+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIN3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:57:14.030001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIN3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27399968; Phenotypes: Witteveen-Kolk syndrome, OMIM # 613406; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:56:01.269476+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIN3A as ready",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:56:01.211338+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sin3a has been classified as Green List (High Evidence).",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:55:57.298941+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIN3A were changed from SYNDROMIC INTELLECTUAL DISABILITY to Witteveen-Kolk syndrome, MIM # 613406",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:55:42.348768+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIN3A were set to ",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:55:31.728255+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIN3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:51:17.385193+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC20A1 as ready",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:51:17.374890+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc20a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:49:24.296135+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A19 as ready",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:49:24.286310+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a19 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:49:18.407141+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A19 were set to ",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:48:12.556442+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2586",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:SLC24A4 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-20T20:47:14.809958+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2585",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:SMOC2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-20T20:46:22.970419+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMS as ready",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:46:22.960071+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sms has been classified as Red List (Low Evidence).",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:45:22.134325+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRP54 as ready",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:45:22.120407+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srp54 has been classified as Red List (Low Evidence).",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:45:17.135198+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRP54 were changed from Syndromic neutropenia with Shwachman-Diamond-like features to Neutropenia, severe congenital, 8, autosomal dominant, MIM#\t618752",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:44:34.958228+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STX1B as ready",
"entity_name": "STX1B",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:44:34.947631+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stx1b has been classified as Red List (Low Evidence).",
"entity_name": "STX1B",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:44:05.337077+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STX1B were changed from GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 to Generalized epilepsy with febrile seizures plus, type 9, MIM#\t616172",
"entity_name": "STX1B",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:43:19.671576+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYN1 as ready",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:43:19.661098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syn1 has been classified as Green List (High Evidence).",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:43:11.926514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYN1 were changed from to Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491; Intellectual developmental disorder, X-linked 50, MIM# 300115",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:37:21.923823+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYN1 were set to ",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:37:01.867382+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:36:43.707770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14985377, 21441247, 28973667, 21441247, 34243774; Phenotypes: Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491, Intellectual developmental disorder, X-linked 50, MIM# 300115; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:34:12.224170+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYN1 as ready",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:34:12.213729+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syn1 has been classified as Red List (Low Evidence).",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:34:04.007140+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYN1 were changed from EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS to Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM#\t300491; Intellectual developmental disorder, X-linked 50, MIM#\t300115",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:32:19.629927+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SZT2 as ready",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:32:19.608728+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: szt2 has been classified as Green List (High Evidence).",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:32:05.184217+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SZT2 were changed from INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM to Developmental and epileptic encephalopathy 18, MIM #615476",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:31:46.337286+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SZT2 were set to ",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:30:55.998481+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTAN1 as ready",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:30:55.987940+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptan1 has been classified as Red List (Low Evidence).",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:30:52.558051+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTAN1 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 to Developmental and epileptic encephalopathy 5, MIM# 613477",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:30:40.452577+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTAN1 were set to ",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:30:30.479132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:30:02.334893+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:29:31.884134+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOC3L2 as ready",
"entity_name": "EXOC3L2",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:29:31.858158+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exoc3l2 has been classified as Green List (High Evidence).",
"entity_name": "EXOC3L2",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:29:28.167570+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; Meckel-Gruber-like syndrome to Dandy-Walker malformation, MONDO:0009072; Meckel-Gruber-like syndrome",
"entity_name": "EXOC3L2",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:28:21.748466+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXOC3L2 were set to 28749478; 27894351; 30327448",
"entity_name": "EXOC3L2",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:27:46.737421+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXPH5 as ready",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:27:46.728344+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exph5 has been classified as Red List (Low Evidence).",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:27:43.052761+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXPH5 were changed from INHERITED SKIN FRAGILITY to Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive, OMIM #615028",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:27:32.323305+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXPH5 were set to ",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:27:05.962541+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXPH5 as Red List (low evidence)",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:27:05.949441+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exph5 has been classified as Red List (Low Evidence).",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:26:52.084209+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EXPH5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:25:24.672550+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELMO2 as ready",
"entity_name": "ELMO2",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:25:24.663247+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elmo2 has been classified as Red List (Low Evidence).",
"entity_name": "ELMO2",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:25:19.302970+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELMO2 were changed from Intraosseous Vascular Malformation to Vascular malformation, primary intraosseous, MIM#\t606893",
"entity_name": "ELMO2",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:24:05.514244+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCC as ready",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:24:05.490007+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcc has been classified as Green List (High Evidence).",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:23:42.385490+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCC were changed from to Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:23:23.916175+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCC were set to ",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:22:53.653763+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DCC was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:22:34.485048+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20431009, 31697046, 21242494, 28250454, 28250456; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600, Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:21:05.261065+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCC as ready",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:21:05.242468+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcc has been classified as Green List (High Evidence).",
"entity_name": "DCC",
"entity_type": "gene"
}
]
}