{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2012","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2010","results":[{"created":"2020-01-03T10:56:24.966074+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.556","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CPLX1 as ready","entity_name":"CPLX1","entity_type":"gene"},{"created":"2020-01-03T10:56:24.954835+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.556","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cplx1 has been classified as Green List (High Evidence).","entity_name":"CPLX1","entity_type":"gene"},{"created":"2020-01-03T10:56:14.918211+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.556","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CPLX1 as Green List (high evidence)","entity_name":"CPLX1","entity_type":"gene"},{"created":"2020-01-03T10:56:14.906699+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.556","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cplx1 has been classified as Green List (High Evidence).","entity_name":"CPLX1","entity_type":"gene"},{"created":"2020-01-03T10:55:57.391600+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.555","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CPLX1 was added\ngene: CPLX1 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: CPLX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPLX1 were set to 26539891; 28422131\nPhenotypes for gene: CPLX1 were set to Epileptic encephalopathy, early infantile, 63, MIM#\t617976\nReview for gene: CPLX1 was set to GREEN\nAdded comment: Five individuals from three unrelated families reported in larger neurodevelopmental cohorts. \nSources: Expert list","entity_name":"CPLX1","entity_type":"gene"},{"created":"2020-01-03T10:53:51.477771+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CPLX1 as ready","entity_name":"CPLX1","entity_type":"gene"},{"created":"2020-01-03T10:53:51.460849+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cplx1 has been classified as Green List (High Evidence).","entity_name":"CPLX1","entity_type":"gene"},{"created":"2020-01-03T10:53:44.493637+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CPLX1 as Green List (high evidence)","entity_name":"CPLX1","entity_type":"gene"},{"created":"2020-01-03T10:53:44.480247+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cplx1 has been classified as Green List (High Evidence).","entity_name":"CPLX1","entity_type":"gene"},{"created":"2020-01-03T10:53:07.097919+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CPLX1 was added\ngene: CPLX1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: CPLX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPLX1 were set to 26539891; 28422131\nPhenotypes for gene: CPLX1 were set to Epileptic encephalopathy, early infantile, 63, MIM#\t617976\nReview for gene: CPLX1 was set to GREEN\nAdded comment: Five individuals from three unrelated families reported in larger neurodevelopmental cohorts. \nSources: Expert list","entity_name":"CPLX1","entity_type":"gene"},{"created":"2020-01-03T10:48:23.354961+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF13 as ready","entity_name":"RNF13","entity_type":"gene"},{"created":"2020-01-03T10:48:23.344333+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf13 has been classified as Green List (High Evidence).","entity_name":"RNF13","entity_type":"gene"},{"created":"2020-01-03T10:48:19.306969+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNF13 as Green List (high evidence)","entity_name":"RNF13","entity_type":"gene"},{"created":"2020-01-03T10:48:19.293793+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf13 has been classified as Green List (High Evidence).","entity_name":"RNF13","entity_type":"gene"},{"created":"2020-01-03T10:47:41.089948+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.554","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF13 as ready","entity_name":"RNF13","entity_type":"gene"},{"created":"2020-01-03T10:47:41.078209+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.554","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf13 has been classified as Green List (High Evidence).","entity_name":"RNF13","entity_type":"gene"},{"created":"2020-01-03T10:47:33.530577+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNF13 was added\ngene: RNF13 was added to Regression_VCGS. Sources: Literature\nMode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNF13 were set to 30595371\nPhenotypes for gene: RNF13 were set to Epileptic encephalopathy, early infantile, 73, MIM#\t618379\nMode of pathogenicity for gene: RNF13 was set to Other\nReview for gene: RNF13 was set to GREEN\nAdded comment: Three unrelated individuals with de novo gain-of-function variants in this gene reported; severe neurodegenerative disorder, seizures are a prominent part of the phenotype. \nSources: Literature","entity_name":"RNF13","entity_type":"gene"},{"created":"2020-01-03T10:47:22.620103+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.554","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNF13 as Green List (high evidence)","entity_name":"RNF13","entity_type":"gene"},{"created":"2020-01-03T10:47:22.607940+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.554","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf13 has been classified as Green List (High Evidence).","entity_name":"RNF13","entity_type":"gene"},{"created":"2020-01-03T10:46:57.614983+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF13 as ready","entity_name":"RNF13","entity_type":"gene"},{"created":"2020-01-03T10:46:57.603428+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf13 has been classified as Green List (High Evidence).","entity_name":"RNF13","entity_type":"gene"},{"created":"2020-01-03T10:46:53.226076+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNF13 was added\ngene: RNF13 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNF13 were set to 30595371\nPhenotypes for gene: RNF13 were set to Epileptic encephalopathy, early infantile, 73, MIM#\t618379\nMode of pathogenicity for gene: RNF13 was set to Other\nReview for gene: RNF13 was set to GREEN\nAdded comment: Three unrelated individuals with de novo gain-of-function variants in this gene reported; severe neurodegenerative disorder, seizures are a prominent part of the phenotype. \nSources: Literature","entity_name":"RNF13","entity_type":"gene"},{"created":"2020-01-03T10:46:26.305505+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNF13 as Green List (high evidence)","entity_name":"RNF13","entity_type":"gene"},{"created":"2020-01-03T10:46:26.293664+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf13 has been classified as Green List (High Evidence).","entity_name":"RNF13","entity_type":"gene"},{"created":"2020-01-03T10:44:12.504437+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNF13 as Green List (high evidence)","entity_name":"RNF13","entity_type":"gene"},{"created":"2020-01-03T10:44:12.480490+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf13 has been classified as Green List (High Evidence).","entity_name":"RNF13","entity_type":"gene"},{"created":"2020-01-03T10:43:07.335652+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNF13 was added\ngene: RNF13 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNF13 were set to 30595371\nPhenotypes for gene: RNF13 were set to Epileptic encephalopathy, early infantile, 73, MIM#\t618379\nMode of pathogenicity for gene: RNF13 was set to Other\nReview for gene: RNF13 was set to GREEN\nAdded comment: Three unrelated individuals with de novo gain-of-function variants in this gene reported; severe neurodegenerative disorder, seizures are a prominent part of the phenotype. \nSources: Literature","entity_name":"RNF13","entity_type":"gene"},{"created":"2020-01-03T10:39:56.577919+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1464","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLS as ready","entity_name":"GLS","entity_type":"gene"},{"created":"2020-01-03T10:39:56.566915+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1464","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gls has been classified as Amber List (Moderate Evidence).","entity_name":"GLS","entity_type":"gene"},{"created":"2020-01-03T10:39:52.688541+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1464","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLS as Amber List (moderate evidence)","entity_name":"GLS","entity_type":"gene"},{"created":"2020-01-03T10:39:52.675539+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1464","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gls has been classified as Amber List (Moderate Evidence).","entity_name":"GLS","entity_type":"gene"},{"created":"2020-01-03T10:39:29.763114+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1463","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLS was added\ngene: GLS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLS were set to 30970188\nPhenotypes for gene: GLS were set to Global developmental delay, progressive ataxia, and elevated glutamine, MIM#\t618412\nReview for gene: GLS was set to AMBER\nAdded comment: Three unrelated individuals described with compound het variants, however, note one of these is a triplet expansion in the 5' UTR, this may not be tractable depending on sequencing modality. \nSources: Literature","entity_name":"GLS","entity_type":"gene"},{"created":"2020-01-03T10:36:00.683753+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.552","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLS as ready","entity_name":"GLS","entity_type":"gene"},{"created":"2020-01-03T10:36:00.672107+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.552","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gls has been classified as Green List (High Evidence).","entity_name":"GLS","entity_type":"gene"},{"created":"2020-01-03T10:35:52.809460+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.552","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLS as Green List (high evidence)","entity_name":"GLS","entity_type":"gene"},{"created":"2020-01-03T10:35:52.796875+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.552","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gls has been classified as Green List (High Evidence).","entity_name":"GLS","entity_type":"gene"},{"created":"2020-01-03T10:35:17.549978+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.551","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLS was added\ngene: GLS was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLS were set to 30575854; 30970188\nPhenotypes for gene: GLS were set to Epileptic encephalopathy, early infantile, 71, MIM#\t618328; Global developmental delay, progressive ataxia, and elevated glutamine, MIM#\t618412\nReview for gene: GLS was set to GREEN\nAdded comment: Three individuals from two unrelated families reported with early neonatal refractory seizures, structural brain abnormalities and oedema; significantly increased glutamine levels (PMID: 30575854).\r\n\r\nAnother three unrelated individuals described with compound het variants, one of which is a triplet expansion in the 5' UTR (PMID: 30970188). \nSources: Expert list","entity_name":"GLS","entity_type":"gene"},{"created":"2020-01-03T10:30:17.676279+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLS as ready","entity_name":"GLS","entity_type":"gene"},{"created":"2020-01-03T10:30:17.664308+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gls has been classified as Amber List (Moderate Evidence).","entity_name":"GLS","entity_type":"gene"},{"created":"2020-01-03T10:29:05.878937+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLS as Amber List (moderate evidence)","entity_name":"GLS","entity_type":"gene"},{"created":"2020-01-03T10:29:05.850678+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gls has been classified as Amber List (Moderate Evidence).","entity_name":"GLS","entity_type":"gene"},{"created":"2020-01-03T10:28:28.971040+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLS was added\ngene: GLS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLS were set to 30575854\nPhenotypes for gene: GLS were set to Epileptic encephalopathy, early infantile, 71, MIM#\t618328\nReview for gene: GLS was set to AMBER\nAdded comment: Three individuals from two unrelated families reported with early neonatal refractory seizures, structural brain abnormalities and oedema; significantly increased glutamine levels. \nSources: Expert list","entity_name":"GLS","entity_type":"gene"},{"created":"2020-01-03T10:24:11.389762+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAD as ready","entity_name":"CAD","entity_type":"gene"},{"created":"2020-01-03T10:24:11.378053+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cad has been classified as Green List (High Evidence).","entity_name":"CAD","entity_type":"gene"},{"created":"2020-01-03T10:24:06.819833+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAD as Green List (high evidence)","entity_name":"CAD","entity_type":"gene"},{"created":"2020-01-03T10:24:06.808938+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cad has been classified as Green List (High Evidence).","entity_name":"CAD","entity_type":"gene"},{"created":"2020-01-03T10:23:32.538175+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAD was added\ngene: CAD was added to Regression_VCGS. Sources: Expert list\nMode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAD were set to 28007989; 25678555\nPhenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM#\t616457\nReview for gene: CAD was set to GREEN\nAdded comment: Five individuals from four unrelated families reported, seizures are a prominent part of the phenotype of this progressive neurometabolic condition. \nSources: Expert list","entity_name":"CAD","entity_type":"gene"},{"created":"2020-01-03T10:21:34.629491+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAD as ready","entity_name":"CAD","entity_type":"gene"},{"created":"2020-01-03T10:21:34.618081+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cad has been classified as Green List (High Evidence).","entity_name":"CAD","entity_type":"gene"},{"created":"2020-01-03T10:21:25.750943+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAD as Green List (high evidence)","entity_name":"CAD","entity_type":"gene"},{"created":"2020-01-03T10:21:25.740306+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cad has been classified as Green List (High Evidence).","entity_name":"CAD","entity_type":"gene"},{"created":"2020-01-03T10:21:05.227721+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.549","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAD was added\ngene: CAD was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAD were set to 28007989; 25678555\nPhenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM#\t616457\nReview for gene: CAD was set to GREEN\nAdded comment: Five individuals from four unrelated families reported, seizures are a prominent part of the phenotype of this progressive neurometabolic condition. \nSources: Expert list","entity_name":"CAD","entity_type":"gene"},{"created":"2020-01-03T10:19:37.121904+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAD as ready","entity_name":"CAD","entity_type":"gene"},{"created":"2020-01-03T10:19:37.110449+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cad has been classified as Green List (High Evidence).","entity_name":"CAD","entity_type":"gene"},{"created":"2020-01-03T10:19:32.232382+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAD as Green List (high evidence)","entity_name":"CAD","entity_type":"gene"},{"created":"2020-01-03T10:19:32.219719+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cad has been classified as Green List (High Evidence).","entity_name":"CAD","entity_type":"gene"},{"created":"2020-01-03T10:18:56.098281+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAD was added\ngene: CAD was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAD were set to 28007989; 25678555\nPhenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM#\t616457\nReview for gene: CAD was set to GREEN\nAdded comment: Five individuals from four unrelated families reported, seizures are a prominent part of the phenotype of this progressive neurometabolic condition. \nSources: Expert list","entity_name":"CAD","entity_type":"gene"},{"created":"2020-01-03T10:14:58.248766+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.548","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PARS2 as ready","entity_name":"PARS2","entity_type":"gene"},{"created":"2020-01-03T10:14:58.236271+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.548","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pars2 has been classified as Green List (High Evidence).","entity_name":"PARS2","entity_type":"gene"},{"created":"2020-01-03T10:14:50.283096+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.548","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PARS2 were changed from  to Epileptic encephalopathy, early infantile, 75, MIM# 618437","entity_name":"PARS2","entity_type":"gene"},{"created":"2020-01-03T10:14:27.509001+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.547","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PARS2 were set to ","entity_name":"PARS2","entity_type":"gene"},{"created":"2020-01-03T10:14:04.705508+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.546","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PARS2","entity_type":"gene"},{"created":"2020-01-03T10:13:34.993086+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29410512, 28077841, 25629079, 29915213; Phenotypes: Epileptic encephalopathy, early infantile, 75, MIM# 618437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PARS2","entity_type":"gene"},{"created":"2020-01-03T10:12:41.228302+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PARS2 as ready","entity_name":"PARS2","entity_type":"gene"},{"created":"2020-01-03T10:12:41.216598+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pars2 has been classified as Green List (High Evidence).","entity_name":"PARS2","entity_type":"gene"},{"created":"2020-01-03T10:12:37.947552+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PARS2 were changed from  to Epileptic encephalopathy, early infantile, 75, MIM# 618437","entity_name":"PARS2","entity_type":"gene"},{"created":"2020-01-03T10:12:10.522429+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PARS2 were set to ","entity_name":"PARS2","entity_type":"gene"},{"created":"2020-01-03T10:11:38.059943+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PARS2","entity_type":"gene"},{"created":"2020-01-03T10:11:02.346117+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29410512, 28077841, 25629079, 29915213; Phenotypes: Epileptic encephalopathy, early infantile, 75, MIM# 618437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PARS2","entity_type":"gene"},{"created":"2020-01-03T10:09:38.250710+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PARS2 as ready","entity_name":"PARS2","entity_type":"gene"},{"created":"2020-01-03T10:09:38.238223+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pars2 has been classified as Green List (High Evidence).","entity_name":"PARS2","entity_type":"gene"},{"created":"2020-01-03T10:09:26.806153+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PARS2 as Green List (high evidence)","entity_name":"PARS2","entity_type":"gene"},{"created":"2020-01-03T10:09:26.795282+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pars2 has been classified as Green List (High Evidence).","entity_name":"PARS2","entity_type":"gene"},{"created":"2020-01-03T10:08:38.326306+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PARS2 was added\ngene: PARS2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PARS2 were set to 29410512; 28077841; 25629079; 29915213\nPhenotypes for gene: PARS2 were set to Epileptic encephalopathy, early infantile, 75, MIM#\t618437\nReview for gene: PARS2 was set to GREEN\nAdded comment: Eight individuals from four unrelated families reported; seizures are a prominent part of the phenotype. \nSources: Expert list","entity_name":"PARS2","entity_type":"gene"},{"created":"2020-01-02T22:14:32.065211+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRNA3 as ready","entity_name":"CHRNA3","entity_type":"gene"},{"created":"2020-01-02T22:14:32.053709+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrna3 has been classified as Green List (High Evidence).","entity_name":"CHRNA3","entity_type":"gene"},{"created":"2020-01-02T22:14:23.445091+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRNA3 were changed from  to CAKUT; dysautonomia","entity_name":"CHRNA3","entity_type":"gene"},{"created":"2020-01-02T22:13:15.215092+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.544","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHRNA3 were set to ","entity_name":"CHRNA3","entity_type":"gene"},{"created":"2020-01-02T22:12:48.271251+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.543","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHRNA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRNA3","entity_type":"gene"},{"created":"2020-01-02T22:12:29.433709+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.542","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHRNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31708116; Phenotypes: CAKUT, dysautonomia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRNA3","entity_type":"gene"},{"created":"2020-01-02T21:05:00.178954+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.542","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NADSYN1 as ready","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2020-01-02T21:05:00.161316+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.542","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nadsyn1 has been classified as Green List (High Evidence).","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2020-01-02T21:04:49.844100+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.542","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NADSYN1 as Green List (high evidence)","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2020-01-02T21:04:49.831459+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.542","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nadsyn1 has been classified as Green List (High Evidence).","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2020-01-02T21:04:30.428350+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NADSYN1 was added\ngene: NADSYN1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NADSYN1 were set to 31883644\nPhenotypes for gene: NADSYN1 were set to Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral\nReview for gene: NADSYN1 was set to GREEN\nAdded comment: Five individuals from four unrelated families. \nSources: Literature","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2020-01-02T21:02:21.691829+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS","panel_id":63,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NADSYN1 as ready","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2020-01-02T21:02:21.680256+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS","panel_id":63,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nadsyn1 has been classified as Green List (High Evidence).","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2020-01-02T21:02:15.662506+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS","panel_id":63,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NADSYN1 as Green List (high evidence)","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2020-01-02T21:02:15.651170+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS","panel_id":63,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nadsyn1 has been classified as Green List (High Evidence).","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2020-01-02T21:01:13.330238+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS","panel_id":63,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NADSYN1 was added\ngene: NADSYN1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Literature\nMode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NADSYN1 were set to 31883644\nPhenotypes for gene: NADSYN1 were set to Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral\nReview for gene: NADSYN1 was set to GREEN\nAdded comment: Five individuals from four unrelated families. \nSources: Literature","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2020-01-02T20:52:56.342319+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.540","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPP1R12A as ready","entity_name":"PPP1R12A","entity_type":"gene"},{"created":"2020-01-02T20:52:56.337254+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.540","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Now published, 12 individuals, upgraded to Green.","entity_name":"PPP1R12A","entity_type":"gene"},{"created":"2020-01-02T20:52:56.310731+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.540","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1r12a has been classified as Green List (High Evidence).","entity_name":"PPP1R12A","entity_type":"gene"},{"created":"2020-01-02T20:52:47.543743+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.540","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPP1R12A were changed from  to Intellectual disability; holoprosencephaly; disorder of sex development","entity_name":"PPP1R12A","entity_type":"gene"},{"created":"2020-01-02T20:52:10.254981+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.539","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPP1R12A were set to ","entity_name":"PPP1R12A","entity_type":"gene"},{"created":"2020-01-02T20:51:28.171555+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.538","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PPP1R12A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PPP1R12A","entity_type":"gene"},{"created":"2020-01-02T20:50:34.023903+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1462","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPP1R12A as ready","entity_name":"PPP1R12A","entity_type":"gene"},{"created":"2020-01-02T20:50:34.018124+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1462","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Now published, 12 individuals, upgraded to Green.","entity_name":"PPP1R12A","entity_type":"gene"},{"created":"2020-01-02T20:50:33.989809+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1462","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1r12a has been classified as Green List (High Evidence).","entity_name":"PPP1R12A","entity_type":"gene"},{"created":"2020-01-02T20:50:19.223161+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1462","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPP1R12A were set to ","entity_name":"PPP1R12A","entity_type":"gene"}]}