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{
"count": 221303,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1657",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1655",
"results": [
{
"created": "2020-08-25T13:22:54.305470+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ranbp17 has been classified as Red List (Low Evidence).",
"entity_name": "RANBP17",
"entity_type": "gene"
},
{
"created": "2020-08-25T13:22:46.696958+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RANBP17 as Red List (low evidence)",
"entity_name": "RANBP17",
"entity_type": "gene"
},
{
"created": "2020-08-25T13:22:46.688633+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ranbp17 has been classified as Red List (Low Evidence).",
"entity_name": "RANBP17",
"entity_type": "gene"
},
{
"created": "2020-08-25T13:22:29.635830+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RANBP17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "RANBP17",
"entity_type": "gene"
},
{
"created": "2020-08-25T11:49:14.723494+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SBMA as Green List (high evidence)",
"entity_name": "SBMA",
"entity_type": "str"
},
{
"created": "2020-08-25T11:49:14.711295+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sbma has been classified as Green List (High Evidence).",
"entity_name": "SBMA",
"entity_type": "str"
},
{
"created": "2020-08-25T11:38:23.140448+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SBMA was added\nSTR: SBMA was added to Motor Neuron Disease. Sources: Expert list\nSTR tags were added to STR: SBMA.\nMode of inheritance for STR: SBMA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: SBMA were set to 20301508; 29325606\nPhenotypes for STR: SBMA were set to Spinal and bulbar muscular atrophy of Kennedy MIM#313200\nReview for STR: SBMA was set to GREEN\nSTR: SBMA was marked as clinically relevant\nAdded comment: NM_000044.4:c.172_174CAG[X]\r\nToxic gain of function mechanism of disease\r\nNormal: ≤34 repeats\r\nUnknown: 35 repeats, consideration of the affected individual's clinical presentation and reconciliation with repeat sizes in family members\r\nReduced-penetrance: 36-37 repeats, interpreted within the context of family history, clinical presentation, genotype-phenotype correlations in other family members.\r\nFull-penetrance: ≥38 repeats \nSources: Expert list",
"entity_name": "SBMA",
"entity_type": "str"
},
{
"created": "2020-08-25T11:35:36.197218+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: HD as Green List (high evidence)",
"entity_name": "HD",
"entity_type": "str"
},
{
"created": "2020-08-25T11:35:36.188701+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hd has been classified as Green List (High Evidence).",
"entity_name": "HD",
"entity_type": "str"
},
{
"created": "2020-08-25T11:34:57.956227+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HD was added\nSTR: HD was added to Early-onset Parkinson disease. Sources: Expert list\nSTR tags were added to STR: HD.\nMode of inheritance for STR: HD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HD were set to 20301482; 29325606\nPhenotypes for STR: HD were set to Huntington disease MIM#143100\nReview for STR: HD was set to GREEN\nSTR: HD was marked as clinically relevant\nAdded comment: NM_002111.8:c.52_54CAG[X]\r\nPrimary mechanism of disease is gain of function\r\nNormal: ≤26 repeats\r\nIntermediate: 27-35 repeats, no risk for proband but expansion possible in the next generation\r\nPathogenic (reduced penetrance): 36-39 repeats, proband at risk for HD but may not develop symptoms\r\nPathogenic (full penetrance): ≥40 repeats, development of HD with increased certainty assuming a normal life span \nSources: Expert list",
"entity_name": "HD",
"entity_type": "str"
},
{
"created": "2020-08-25T11:31:56.795124+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed STR:HD from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-25T10:37:12.615266+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.3",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: RRAGC was added\ngene: RRAGC was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: RRAGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RRAGC were set to PMID: 29367541; 27234373\nPhenotypes for gene: RRAGC were set to Pediatric Dilated Cardiomyopathy\nMode of pathogenicity for gene: RRAGC was set to Other\nReview for gene: RRAGC was set to AMBER\nAdded comment: PMID: 29367541 - 1 de novo patient (missense) w/ paediatric cardiomyopathy\r\n\r\nPMID: 27234373 - same de novo missense as above, functional studies show a GOF mechanism\r\n\r\nMIssense variant is absent from the population (gnomAD) and in a highly constrained region (Decipher) \nSources: Literature",
"entity_name": "RRAGC",
"entity_type": "gene"
},
{
"created": "2020-08-25T10:32:32.419406+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: HD as Green List (high evidence)",
"entity_name": "HD",
"entity_type": "str"
},
{
"created": "2020-08-25T10:32:32.410858+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hd has been classified as Green List (High Evidence).",
"entity_name": "HD",
"entity_type": "str"
},
{
"created": "2020-08-25T10:32:08.205113+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HD was added\nSTR: HD was added to Early-onset Parkinson disease. Sources: Expert list\nSTR tags were added to STR: HD.\nMode of inheritance for STR: HD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HD were set to 20301482; 29325606\nPhenotypes for STR: HD were set to Huntington disease MIM#143100\nReview for STR: HD was set to GREEN\nSTR: HD was marked as clinically relevant\nAdded comment: NM_002111.8:c.52_54CAG[X]\r\nPrimary mechanism of disease is gain of function\r\nNormal: ≤26 repeats\r\nIntermediate: 27-35 repeats, no risk for proband but expansion possible in the next generation\r\nPathogenic (reduced penetrance): 36-39 repeats, proband at risk for HD but may not develop symptoms\r\nPathogenic (full penetrance): ≥40 repeats, development of HD with increased certainty assuming a normal life span \nSources: Expert list",
"entity_name": "HD",
"entity_type": "str"
},
{
"created": "2020-08-25T10:02:45.883421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MICA as ready",
"entity_name": "MICA",
"entity_type": "gene"
},
{
"created": "2020-08-25T10:02:45.874196+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mica has been classified as Red List (Low Evidence).",
"entity_name": "MICA",
"entity_type": "gene"
},
{
"created": "2020-08-25T10:02:37.941838+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MICA as Red List (low evidence)",
"entity_name": "MICA",
"entity_type": "gene"
},
{
"created": "2020-08-25T10:02:37.932519+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mica has been classified as Red List (Low Evidence).",
"entity_name": "MICA",
"entity_type": "gene"
},
{
"created": "2020-08-25T10:02:20.458576+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MICA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MICA",
"entity_type": "gene"
},
{
"created": "2020-08-24T21:49:02.634392+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLVCR2 as ready",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2020-08-24T21:49:02.625408+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flvcr2 has been classified as Red List (Low Evidence).",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2020-08-24T21:48:59.699065+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLVCR2 were changed from Cystic hygroma; hydrops; hydranencephal; arthrogryposis to Cystic hygroma; hydrops; hydranencephaly; arthrogryposis; Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2020-08-24T21:48:34.379794+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLVCR2 were set to PMID: 30712878",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2020-08-24T21:48:04.319182+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLVCR2 as Red List (low evidence)",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2020-08-24T21:48:04.310478+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flvcr2 has been classified as Red List (Low Evidence).",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2020-08-24T21:47:36.706531+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single case reported as part of big prenatal series.; to: Single case reported with cystic hygroma as part of big prenatal series. More typical presentation is with hydrocephalus, fetal akinesia, polyhydramnios.",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2020-08-24T21:47:04.404435+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FLVCR2: Changed phenotypes: Cystic hygroma, Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2020-08-24T21:46:09.985513+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FLVCR2: Rating: RED; Mode of pathogenicity: None; Publications: 30712878; Phenotypes: Cystic hygroma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2020-08-24T21:30:47.030293+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.186",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "gene: FLVCR2 was added\ngene: FLVCR2 was added to Hydrops fetalis. Sources: Other\nMode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FLVCR2 were set to PMID: 30712878\nPhenotypes for gene: FLVCR2 were set to Cystic hygroma; hydrops; hydranencephal; arthrogryposis\nPenetrance for gene: FLVCR2 were set to unknown\nReview for gene: FLVCR2 was set to RED\nAdded comment: In this prospective cohort study, the parents of fetuses who were found to have a structural anomaly in a prenatal ultrasound were screened for possible participation in the study.\r\n\r\nDNA samples from 234 (45%) eligible trios were therefore used for analysis of the primary outcome. By use of trio sequence data, we identified diagnostic genetic variants in 24 (10%) families. Mutations with bioinformatic signatures that were indicative of pathogenicity but with insufficient evidence to be considered diagnostic were also evaluated; 46 (20%) of the 234 fetuses assessed were found to have such signatures. \nSources: Other",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:59:59.999812+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: APC2: Changed rating: GREEN",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:54:33.836965+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 5 families reported though some were from the Pennsylvania Mennonite population, and had same founder variant (but at least 4 unique variants reported).; to: At least 5 families reported though some were from the Pennsylvania Mennonite population, and had same founder variant (but at least 4 unique variants reported). Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. ",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:52:11.066538+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRADD as ready",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:52:11.056907+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cradd has been classified as Green List (High Evidence).",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:52:07.679433+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRADD were changed from to Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:51:47.586266+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRADD were set to ",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:51:18.689100+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:50:52.291036+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773430; Phenotypes: Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:43:55.306507+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRADD as ready",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:43:55.298051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cradd has been classified as Green List (High Evidence).",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:43:45.214198+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRADD were changed from to Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:43:27.687260+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRADD were set to ",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:43:01.602126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:42:45.299411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773430; Phenotypes: Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:42:20.964300+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRADD as ready",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:42:20.954305+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cradd has been classified as Green List (High Evidence).",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:41:58.870154+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRADD were changed from to Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:41:30.898658+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRADD were set to ",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:41:06.111571+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:40:43.027433+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773430; Phenotypes: Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:27:44.629235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TDGF1 as ready",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:27:44.619945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdgf1 has been classified as Red List (Low Evidence).",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:27:37.319307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TDGF1 were changed from to Forebrain abnormalities",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:27:20.367904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TDGF1 were set to ",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:27:04.374074+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TDGF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:26:43.991202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TDGF1 as Red List (low evidence)",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:26:43.980536+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdgf1 has been classified as Red List (Low Evidence).",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:26:21.402834+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TDGF1: Rating: RED; Mode of pathogenicity: None; Publications: 12073012; Phenotypes: Forebrain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:25:57.475630+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TDGF1 as ready",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:25:57.458523+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdgf1 has been classified as Red List (Low Evidence).",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:25:38.120540+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TDGF1 as ready",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:25:38.114940+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Variant reported is present in 46 hets in gnomad.",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:25:38.047763+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdgf1 has been classified as Red List (Low Evidence).",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:25:18.351166+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: TDGF1.",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:24:49.445974+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TDGF1 were changed from to Forebrain abnormalities",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:24:26.109929+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TDGF1 were set to ",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:24:00.275285+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TDGF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:23:33.040410+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TDGF1 as Red List (low evidence)",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:23:33.029642+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdgf1 has been classified as Red List (Low Evidence).",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:23:09.488615+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: TDGF1.",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T20:21:23.309676+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TDGF1: Rating: RED; Mode of pathogenicity: None; Publications: 12073012; Phenotypes: Forebrain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:29:44.188168+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STIL as ready",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:29:44.176675+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stil has been classified as Red List (Low Evidence).",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:29:41.857117+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STIL were changed from to Microcephaly 7, primary, autosomal recessive, MIM# 612703",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:29:14.103011+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STIL were set to ",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:28:57.766357+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STIL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:28:31.490233+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STIL as Red List (low evidence)",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:28:31.480140+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stil has been classified as Red List (Low Evidence).",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:28:04.687682+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STIL: Rating: RED; Mode of pathogenicity: None; Publications: 25218063; Phenotypes: Microcephaly 7, primary, autosomal recessive, MIM# 612703; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:22:38.018421+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HESX1 as ready",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:22:38.007573+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hesx1 has been classified as Green List (High Evidence).",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:22:35.448059+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HESX1 were changed from to Septooptic dysplasia, MIM# 182230",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:22:13.132241+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HESX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:21:49.552806+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Septooptic dysplasia, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:21:16.477767+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLI3 as ready",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:21:16.466458+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Red List (Low Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:21:13.849909+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from to Pallister-Hall syndrome, MIM# 146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:20:50.700639+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLI3 were set to ",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:20:26.823747+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:20:03.269853+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLI3 as Red List (low evidence)",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:20:03.260906+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Red List (Low Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:19:39.665184+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLI3: Rating: RED; Mode of pathogenicity: None; Publications: 24736735; Phenotypes: Pallister-Hall syndrome, MIM# 146510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:10:42.927738+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLL1 as ready",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:10:42.918688+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dll1 has been classified as Green List (High Evidence).",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:10:38.932226+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLL1 as Green List (high evidence)",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:10:38.921845+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dll1 has been classified as Green List (High Evidence).",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:10:11.848170+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLL1 was added\ngene: DLL1 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list\nMode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DLL1 were set to 31353024\nPhenotypes for gene: DLL1 were set to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709\nReview for gene: DLL1 was set to GREEN\nAdded comment: 14 individuals from 11 families reported. All 11 patients who underwent brain imaging showed nonspecific and variable abnormalities, including hydrocephalus, ventriculomegaly, thin, short, or dysplastic corpus callosum, subtle cortical dysplasia, and small cerebellum or pons. One patient had periventricular nodular heterotopia. \nSources: Expert list",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:09:01.330842+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLL1 as ready",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:09:01.309537+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dll1 has been classified as Green List (High Evidence).",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2020-08-24T19:08:57.547088+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLL1 as Green List (high evidence)",
"entity_name": "DLL1",
"entity_type": "gene"
}
]
}