{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1893","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1891","results":[{"created":"2020-03-26T14:15:05.387716+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: htt has been classified as Red List (Low Evidence).","entity_name":"HTT","entity_type":"gene"},{"created":"2020-03-26T14:12:52.479353+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"Tag STR tag was added to gene: HTT.","entity_name":"HTT","entity_type":"gene"},{"created":"2020-03-26T14:12:40.717946+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: HTT: Rating: GREEN; Mode of pathogenicity: None; Publications: 26740508, 27329733, 31800013; Phenotypes: Lopes-Maciel-Rodan syndrome MIM#617435, Huntington disease MIM#143100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HTT","entity_type":"gene"},{"created":"2020-03-26T09:03:19.960304+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.640","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NRROS as ready","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-26T09:03:19.950414+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.640","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nrros has been classified as Green List (High Evidence).","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-26T09:03:12.381727+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.640","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NRROS as Green List (high evidence)","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-26T09:03:12.368682+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.640","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nrros has been classified as Green List (High Evidence).","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-26T09:02:43.243103+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.639","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NRROS: Rating: GREEN; Mode of pathogenicity: None; Publications: 32100099, 32197075; Phenotypes: neurodegeneration, intracranial calcification, epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-26T09:00:40.894689+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NRROS as ready","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-26T09:00:40.885075+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nrros has been classified as Green List (High Evidence).","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-26T09:00:31.559635+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NRROS as Green List (high evidence)","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-26T09:00:31.546503+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nrros has been classified as Green List (High Evidence).","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-26T09:00:03.657342+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NRROS was added\ngene: NRROS was added to Brain Calcification. Sources: Literature\nMode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NRROS were set to 32100099; 32197075\nPhenotypes for gene: NRROS were set to neurodegeneration; intracranial calcification; epilepsy\nReview for gene: NRROS was set to GREEN\nAdded comment: Normal development or mild developmental delay until onset of regression around age of 1 concurrent with epilepsy\r\nBiallelic LOF mutations with functional evidence of pathogenicity reported in 6 unrelated families. \nSources: Literature","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-26T07:56:20.786076+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FMR1 as ready","entity_name":"FMR1","entity_type":"gene"},{"created":"2020-03-26T07:56:20.773134+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fmr1 has been classified as Green List (High Evidence).","entity_name":"FMR1","entity_type":"gene"},{"created":"2020-03-26T07:55:45.416258+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"Tag STR tag was added to gene: FMR1.","entity_name":"FMR1","entity_type":"gene"},{"created":"2020-03-26T07:55:35.125299+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27340021, 28176767; Phenotypes: Fragile X tremor/ataxia syndrome MIM#300623, Fragile X syndrome MIM#300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"FMR1","entity_type":"gene"},{"created":"2020-03-25T20:55:31.628459+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1837","user_name":"Sue White","item_type":"entity","text":"Classified gene: GNB2 as Amber List (moderate evidence)","entity_name":"GNB2","entity_type":"gene"},{"created":"2020-03-25T20:55:31.615361+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1837","user_name":"Sue White","item_type":"entity","text":"Gene: gnb2 has been classified as Amber List (Moderate Evidence).","entity_name":"GNB2","entity_type":"gene"},{"created":"2020-03-25T20:55:06.332674+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1836","user_name":"Sue White","item_type":"entity","text":"gene: GNB2 was added\ngene: GNB2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNB2 were set to 31698099\nPhenotypes for gene: GNB2 were set to intellectual disability; dysmorphic features\nPenetrance for gene: GNB2 were set to Complete\nReview for gene: GNB2 was set to AMBER\nAdded comment: single report of patient with de novo missense variant in GNB2 and intellectual disability. Emerging evidence of other de no missense variants in GNB2 and ID \nSources: Literature","entity_name":"GNB2","entity_type":"gene"},{"created":"2020-03-25T20:51:02.121579+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2483","user_name":"Sue White","item_type":"entity","text":"Classified gene: GNB2 as Amber List (moderate evidence)","entity_name":"GNB2","entity_type":"gene"},{"created":"2020-03-25T20:51:02.108220+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2483","user_name":"Sue White","item_type":"entity","text":"Gene: gnb2 has been classified as Amber List (Moderate Evidence).","entity_name":"GNB2","entity_type":"gene"},{"created":"2020-03-25T20:50:13.207164+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2482","user_name":"Sue White","item_type":"entity","text":"gene: GNB2 was added\ngene: GNB2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNB2 were set to 31698099\nPhenotypes for gene: GNB2 were set to intellectual disability; dysmorphic features\nReview for gene: GNB2 was set to AMBER\nAdded comment: emerging evidence of de novo missense variants in patients with intellectual disability \nSources: Literature","entity_name":"GNB2","entity_type":"gene"},{"created":"2020-03-25T20:47:28.237095+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1835","user_name":"Sue White","item_type":"entity","text":"Classified gene: NRROS as Green List (high evidence)","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-25T20:47:28.228695+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1835","user_name":"Sue White","item_type":"entity","text":"Gene: nrros has been classified as Green List (High Evidence).","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-25T20:47:00.655086+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1834","user_name":"Sue White","item_type":"entity","text":"gene: NRROS was added\ngene: NRROS was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NRROS were set to 32100099; 32197075\nPhenotypes for gene: NRROS were set to neurodegeneration; intracranial calcification; epilepsy\nPenetrance for gene: NRROS were set to Complete\nReview for gene: NRROS was set to GREEN\nAdded comment: normal development or mild developmental delay until onset of regression around age of 1 concurrent with epilepsy\r\nbiallelic LOF mutations with functional evidence of pathogenicity \nSources: Literature","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-25T20:45:04.379928+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.639","user_name":"Sue White","item_type":"entity","text":"gene: NRROS was added\ngene: NRROS was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NRROS were set to 32100099; 32197075\nPhenotypes for gene: NRROS were set to neurodegeneration; intracranial calcification; epilepsy\nPenetrance for gene: NRROS were set to Complete","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-25T20:43:37.424404+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.96","user_name":"Sue White","item_type":"entity","text":"Classified gene: NRROS as Green List (high evidence)","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-25T20:43:37.411175+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.96","user_name":"Sue White","item_type":"entity","text":"Gene: nrros has been classified as Green List (High Evidence).","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-25T20:43:04.922493+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.95","user_name":"Sue White","item_type":"entity","text":"gene: NRROS was added\ngene: NRROS was added to Regression. Sources: Literature\nMode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NRROS were set to 32100099\nPhenotypes for gene: NRROS were set to neurodegeneration; intracranial calcification; epilepsy\nPenetrance for gene: NRROS were set to Complete\nReview for gene: NRROS was set to GREEN\nAdded comment: Sources: Literature","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-25T20:40:45.047459+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2481","user_name":"Sue White","item_type":"entity","text":"Classified gene: NRROS as Green List (high evidence)","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-25T20:40:45.019949+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2481","user_name":"Sue White","item_type":"entity","text":"Gene: nrros has been classified as Green List (High Evidence).","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-25T20:39:59.323382+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2480","user_name":"Sue White","item_type":"entity","text":"gene: NRROS was added\ngene: NRROS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NRROS were set to 32197075; 32100099\nPhenotypes for gene: NRROS were set to neurodegeneration; intracranial calcification; epilepsy\nPenetrance for gene: NRROS were set to Complete\nReview for gene: NRROS was set to GREEN\nAdded comment: Sources: Literature","entity_name":"NRROS","entity_type":"gene"},{"created":"2020-03-25T18:25:48.116090+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TMEM230 was added\ngene: TMEM230 was added to Early onset Parkinson disease. Sources: Expert list\nMode of inheritance for gene: TMEM230 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM230 were set to 30804554; 27270108; 28115417; 28017548; 30804555; 30804556; 31323517\nPhenotypes for gene: TMEM230 were set to Parkinson disease 21, MIM#616361\nReview for gene: TMEM230 was set to AMBER\nAdded comment: A single family segregating a heterozygous missense (p.Arg141Leu) and supporting functional evidence. However, another group found a DNAJC13 variant in the same family also with supporting functional evidence. A stoploss was also identified in 9 Chinese Parkinson disease probands, however it was identified homozygous in 7 of these with no difference in the severity of phenotype. A similar stop loss was identified in a North American PD case. Another missense was identified in an apparently sporadic PD case (p.Tyr92Cys), but was also present in the unaffected mother (age 57 yrs). Another rare missense has been reported in a case with familial PD. The missense reported in a family from Southern Italy is too common in gnomAD v2.1 for a dominant disease (PMID: 31323517 - p.Ile125Met). \nSources: Expert list","entity_name":"TMEM230","entity_type":"gene"},{"created":"2020-03-25T18:11:47.421414+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CNOT3 as ready","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:11:47.412639+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnot3 has been classified as Green List (High Evidence).","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:11:44.334386+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CNOT3 were changed from  to Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:11:15.770535+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CNOT3 were set to ","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:10:48.135495+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CNOT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:10:18.858709+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CNOT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31201375; Phenotypes: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:09:43.520582+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1833","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CNOT3 as ready","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:09:43.507515+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1833","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnot3 has been classified as Green List (High Evidence).","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:09:27.233805+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1833","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CNOT3 were changed from  to Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:09:15.617106+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2479","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CNOT3 as ready","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:09:15.612385+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2479","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: 16 unrelated individuals reported.","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:09:15.582657+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2479","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnot3 has been classified as Green List (High Evidence).","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:08:54.830523+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1832","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CNOT3 were set to ","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:08:40.606763+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1831","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CNOT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:08:21.637759+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1830","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CNOT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31201375; Phenotypes: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:06:09.106261+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2479","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CNOT3 as ready","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:06:09.096156+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2479","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnot3 has been classified as Green List (High Evidence).","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:06:01.104879+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2479","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CNOT3 were changed from  to Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 618672","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:05:34.375987+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2478","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CNOT3 were set to ","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T18:05:01.494469+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2477","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CNOT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T17:56:28.142859+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2476","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: CNOT3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31201375; Phenotypes: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 618672; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CNOT3","entity_type":"gene"},{"created":"2020-03-25T14:36:39.491964+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DNAJC13 as ready","entity_name":"DNAJC13","entity_type":"gene"},{"created":"2020-03-25T14:36:39.482775+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dnajc13 has been classified as Red List (Low Evidence).","entity_name":"DNAJC13","entity_type":"gene"},{"created":"2020-03-25T14:36:20.012662+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: DNAJC13: Changed phenotypes: Parkinson disease 21, MIM#616361","entity_name":"DNAJC13","entity_type":"gene"},{"created":"2020-03-25T14:35:55.877218+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DNAJC13 was added\ngene: DNAJC13 was added to Early onset Parkinson disease. Sources: Expert list\nMode of inheritance for gene: DNAJC13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DNAJC13 were set to 30788857; 24218364; 29309590; 31082451; 29887357; 27270108\nReview for gene: DNAJC13 was set to AMBER\nAdded comment: A single family segregating a heterozygous missense (p.Asn855Ser) and supporting functional evidence. However, another group found a TMEM230 variant in the same family also with supporting functional evidence. Two missense reported in two other studies (PMID: 30788857 - p.Arg1382His; PMID: 29887357 - p.Arg903Lys) are more common in gnomAD v2.1 than would be expected for a dominant disorder. \nSources: Expert list","entity_name":"DNAJC13","entity_type":"gene"},{"created":"2020-03-25T11:04:27.083894+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DCAF17 as ready","entity_name":"DCAF17","entity_type":"gene"},{"created":"2020-03-25T11:04:27.075011+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dcaf17 has been classified as Red List (Low Evidence).","entity_name":"DCAF17","entity_type":"gene"},{"created":"2020-03-25T11:04:24.499596+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DCAF17 as Red List (low evidence)","entity_name":"DCAF17","entity_type":"gene"},{"created":"2020-03-25T11:04:24.493278+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Dystonia rather parkinsonism appears to be a feature of this condition and this gene is one the dystonia panel.","entity_name":"DCAF17","entity_type":"gene"},{"created":"2020-03-25T11:04:24.462226+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dcaf17 has been classified as Red List (Low Evidence).","entity_name":"DCAF17","entity_type":"gene"},{"created":"2020-03-25T11:03:11.617227+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: DCAF17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Woodhouse-Sakati syndrome MIM#241080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCAF17","entity_type":"gene"},{"created":"2020-03-25T10:58:38.289582+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ATP7B as ready","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-03-25T10:58:38.281083+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atp7b has been classified as Green List (High Evidence).","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-03-25T10:58:29.869399+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATP7B as Green List (high evidence)","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-03-25T10:58:29.860885+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atp7b has been classified as Green List (High Evidence).","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-03-25T10:41:17.453176+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATP7B was added\ngene: ATP7B was added to Early onset Parkinson disease. Sources: Expert list\nMode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP7B were set to 17435591\nPhenotypes for gene: ATP7B were set to Wilson disease MIM#277900\nReview for gene: ATP7B was set to GREEN\nAdded comment: Parkinsonism is a prominent neurological feature of Wilson disease. \nSources: Expert list","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-03-25T10:38:54.744607+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28012953; Phenotypes: Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CP","entity_type":"gene"},{"created":"2020-03-25T10:06:42.607732+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19489875, 11342698; Phenotypes: Ceroid lipofuscinosis, neuronal, 3 MIM#204200; Mode of inheritance: None","entity_name":"CLN3","entity_type":"gene"},{"created":"2020-03-25T09:50:59.941946+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: CHCHD2: Changed publications: 32068847, 25662902, 31600778, 26705026","entity_name":"CHCHD2","entity_type":"gene"},{"created":"2020-03-25T09:50:53.687232+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: CHCHD2 were set to 32068847; 25662902; 31600778","entity_name":"CHCHD2","entity_type":"gene"},{"created":"2020-03-25T09:50:39.677803+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: CHCHD2 were set to 32068847; 25662902; 31600778","entity_name":"CHCHD2","entity_type":"gene"},{"created":"2020-03-25T09:50:04.173144+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CHCHD2 as Green List (high evidence)","entity_name":"CHCHD2","entity_type":"gene"},{"created":"2020-03-25T09:50:04.159644+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: chchd2 has been classified as Green List (High Evidence).","entity_name":"CHCHD2","entity_type":"gene"},{"created":"2020-03-25T09:49:20.654684+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHCHD2 was added\ngene: CHCHD2 was added to Incidentalome. Sources: Expert list\nMode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHCHD2 were set to 32068847; 25662902; 31600778\nPhenotypes for gene: CHCHD2 were set to Parkinson disease 22, autosomal dominant MIM#616710\nReview for gene: CHCHD2 was set to GREEN\nAdded comment: Adult-onset neurodegenerative disorder. Five families with heterozygous variants, segregation evidence for T61I in multiple families. Supporting functional evidence suggesting mitochondrial dysfunction through the genes role in mitochondrial respiratory function. \nSources: Expert list","entity_name":"CHCHD2","entity_type":"gene"},{"created":"2020-03-25T09:44:00.471455+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.322","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CHCHD2 as Green List (high evidence)","entity_name":"CHCHD2","entity_type":"gene"},{"created":"2020-03-25T09:44:00.462500+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.322","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: chchd2 has been classified as Green List (High Evidence).","entity_name":"CHCHD2","entity_type":"gene"},{"created":"2020-03-25T09:43:26.928267+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.321","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHCHD2 was added\ngene: CHCHD2 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHCHD2 were set to 32068847; 25662902; 31600778\nPhenotypes for gene: CHCHD2 were set to Parkinson disease 22, autosomal dominant MIM#616710\nReview for gene: CHCHD2 was set to GREEN\nAdded comment: Five families with heterozygous variants, segregation evidence for T61I in multiple families. Supporting functional evidence suggesting mitochondrial dysfunction through the genes role in mitochondrial respiratory function. \nSources: Literature","entity_name":"CHCHD2","entity_type":"gene"},{"created":"2020-03-25T09:35:35.090334+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CHCHD2 as Green List (high evidence)","entity_name":"CHCHD2","entity_type":"gene"},{"created":"2020-03-25T09:35:35.080819+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: chchd2 has been classified as Green List (High Evidence).","entity_name":"CHCHD2","entity_type":"gene"},{"created":"2020-03-25T09:32:32.474900+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHCHD2 was added\ngene: CHCHD2 was added to Early onset Parkinson disease. Sources: Expert list\nMode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHCHD2 were set to 32068847; 25662902; 31600778\nPhenotypes for gene: CHCHD2 were set to Parkinson disease 22, autosomal dominant MIM#616710\nReview for gene: CHCHD2 was set to GREEN\nAdded comment: Five families with heterozygous variants, segregation evidence for T61I in multiple families. Supporting functional evidence suggesting mitochondrial dysfunction through the genes role in mitochondrial respiratory function. \nSources: Expert list","entity_name":"CHCHD2","entity_type":"gene"},{"created":"2020-03-25T08:10:46.584256+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: C9orf72 as Red List (low evidence)","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-03-25T08:10:46.577599+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: A repeat expansion is the cause of disease for this gene, which is currently not detectable by NGS.","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-03-25T08:10:46.530277+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: c9orf72 has been classified as Red List (Low Evidence).","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-03-25T08:08:36.017317+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Tag STR tag was added to gene: C9orf72.","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-03-25T08:05:28.085983+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: AFG3L2 as ready","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-03-25T08:05:28.072642+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: afg3l2 has been classified as Red List (Low Evidence).","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-03-25T08:04:40.590241+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AFG3L2 as Red List (low evidence)","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-03-25T08:04:40.581105+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: afg3l2 has been classified as Red List (Low Evidence).","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-03-25T07:58:58.480127+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: 30252181; Phenotypes: optic atrophy, spastic ataxia, L-dopa-responsive parkinsonism; Mode of inheritance: Unknown","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-03-24T20:56:37.855564+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1830","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CBS as ready","entity_name":"CBS","entity_type":"gene"},{"created":"2020-03-24T20:56:37.842025+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1830","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cbs has been classified as Green List (High Evidence).","entity_name":"CBS","entity_type":"gene"},{"created":"2020-03-24T20:56:22.237488+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1830","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CBS were changed from  to Homocystinuria, B6-responsive and nonresponsive types, 236200; Thrombosis, hyperhomocysteinemic, 236200","entity_name":"CBS","entity_type":"gene"},{"created":"2020-03-24T20:56:00.263535+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1829","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CBS were set to ","entity_name":"CBS","entity_type":"gene"},{"created":"2020-03-24T20:55:43.143970+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1828","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CBS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CBS","entity_type":"gene"},{"created":"2020-03-24T20:51:27.385026+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLNB as ready","entity_name":"FLNB","entity_type":"gene"},{"created":"2020-03-24T20:51:27.372049+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flnb has been classified as Green List (High Evidence).","entity_name":"FLNB","entity_type":"gene"}]}