{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2005","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2003","results":[{"created":"2020-01-04T17:50:43.002908+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1487","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: odc1 has been classified as Green List (High Evidence).","entity_name":"ODC1","entity_type":"gene"},{"created":"2020-01-04T17:50:35.518932+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1487","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ODC1 as Green List (high evidence)","entity_name":"ODC1","entity_type":"gene"},{"created":"2020-01-04T17:50:35.506356+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1487","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: odc1 has been classified as Green List (High Evidence).","entity_name":"ODC1","entity_type":"gene"},{"created":"2020-01-04T17:50:19.223231+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1486","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ODC1 was added\ngene: ODC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ODC1 were set to 30475435\nPhenotypes for gene: ODC1 were set to Intellectual disability; macrocephaly; dysmorphism\nMode of pathogenicity for gene: ODC1 was set to Other\nReview for gene: ODC1 was set to GREEN\nAdded comment: Four individuals with de novo GoF variants in this gene reported. \nSources: Literature","entity_name":"ODC1","entity_type":"gene"},{"created":"2020-01-04T17:46:11.341887+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1485","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RALA as ready","entity_name":"RALA","entity_type":"gene"},{"created":"2020-01-04T17:46:11.329603+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1485","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rala has been classified as Green List (High Evidence).","entity_name":"RALA","entity_type":"gene"},{"created":"2020-01-04T17:46:04.461849+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1485","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RALA as Green List (high evidence)","entity_name":"RALA","entity_type":"gene"},{"created":"2020-01-04T17:46:04.447381+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1485","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rala has been classified as Green List (High Evidence).","entity_name":"RALA","entity_type":"gene"},{"created":"2020-01-04T17:45:50.076558+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1484","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RALA was added\ngene: RALA was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RALA were set to 30500825\nPhenotypes for gene: RALA were set to Intellectual disability; short stature; dysmorphism\nReview for gene: RALA was set to GREEN\nAdded comment: Ten individuals with de novo variants in this gene, six of these at two codons only: Val25 and Lys128. \nSources: Literature","entity_name":"RALA","entity_type":"gene"},{"created":"2020-01-04T17:33:51.524523+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1483","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LSS were changed from Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275 to Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275; intellectual disability and alopecia","entity_name":"LSS","entity_type":"gene"},{"created":"2020-01-04T17:22:29.068911+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: P4HTM as ready","entity_name":"P4HTM","entity_type":"gene"},{"created":"2020-01-04T17:22:29.057351+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: p4htm has been classified as Green List (High Evidence).","entity_name":"P4HTM","entity_type":"gene"},{"created":"2020-01-04T17:22:22.841977+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: P4HTM as Green List (high evidence)","entity_name":"P4HTM","entity_type":"gene"},{"created":"2020-01-04T17:22:22.827982+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: p4htm has been classified as Green List (High Evidence).","entity_name":"P4HTM","entity_type":"gene"},{"created":"2020-01-04T17:21:44.053612+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"gene: P4HTM was added\ngene: P4HTM was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: P4HTM were set to 25078763; 30940925\nPhenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493\nReview for gene: P4HTM was set to GREEN\nAdded comment: 12 patients from 5 families with hypotonia, intellectual disability, and eye abnormalities, and homozygous or compound heterozygous pathogenic P4HTM gene variants. Segregated with the disorder in the families. In vitro functional expression studies of 3 of the P4HTM variants showed that they caused a significant decrease in the amount of soluble protein compared to wildtype. \nSources: Literature","entity_name":"P4HTM","entity_type":"gene"},{"created":"2020-01-04T17:03:58.545429+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SETD1A as ready","entity_name":"SETD1A","entity_type":"gene"},{"created":"2020-01-04T17:03:58.533289+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: setd1a has been classified as Green List (High Evidence).","entity_name":"SETD1A","entity_type":"gene"},{"created":"2020-01-04T17:03:36.278229+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SETD1A as Green List (high evidence)","entity_name":"SETD1A","entity_type":"gene"},{"created":"2020-01-04T17:03:36.263333+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: setd1a has been classified as Green List (High Evidence).","entity_name":"SETD1A","entity_type":"gene"},{"created":"2020-01-04T17:02:41.943108+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SETD1A was added\ngene: SETD1A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SETD1A were set to 31197650\nPhenotypes for gene: SETD1A were set to Epilepsy\nReview for gene: SETD1A was set to GREEN\nAdded comment: Four unrelated families reported: in three, the variants occurred de novo, and in the fourth, it segregated with disease. Some functional data. \nSources: Literature","entity_name":"SETD1A","entity_type":"gene"},{"created":"2020-01-04T14:00:58.793864+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.628","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPIA as ready","entity_name":"RPIA","entity_type":"gene"},{"created":"2020-01-04T14:00:58.781534+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.628","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpia has been classified as Green List (High Evidence).","entity_name":"RPIA","entity_type":"gene"},{"created":"2020-01-04T14:00:48.844277+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.628","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPIA were changed from  to Ribose 5-phosphate isomerase deficiency, MIM#\t608611","entity_name":"RPIA","entity_type":"gene"},{"created":"2020-01-04T14:00:31.231846+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.627","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPIA were set to ","entity_name":"RPIA","entity_type":"gene"},{"created":"2020-01-04T14:00:11.393203+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.626","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RPIA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RPIA","entity_type":"gene"},{"created":"2020-01-04T13:52:40.291638+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.625","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRPM3 as ready","entity_name":"TRPM3","entity_type":"gene"},{"created":"2020-01-04T13:52:40.280539+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.625","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm3 has been classified as Green List (High Evidence).","entity_name":"TRPM3","entity_type":"gene"},{"created":"2020-01-04T13:52:28.709947+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.625","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRPM3 as Green List (high evidence)","entity_name":"TRPM3","entity_type":"gene"},{"created":"2020-01-04T13:52:28.698721+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.625","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm3 has been classified as Green List (High Evidence).","entity_name":"TRPM3","entity_type":"gene"},{"created":"2020-01-04T13:52:00.372037+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.624","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRPM3 was added\ngene: TRPM3 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPM3 were set to 31278393\nPhenotypes for gene: TRPM3 were set to Intellectual disability; epilepsy\nReview for gene: TRPM3 was set to GREEN\nAdded comment: 8 unrelated individuals with de novo variants in this gene. Recurrent variant p.(Val837Met) identified in 7/8. \nSources: Literature","entity_name":"TRPM3","entity_type":"gene"},{"created":"2020-01-04T13:50:19.170294+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRPM3 as ready","entity_name":"TRPM3","entity_type":"gene"},{"created":"2020-01-04T13:50:19.157044+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm3 has been classified as Green List (High Evidence).","entity_name":"TRPM3","entity_type":"gene"},{"created":"2020-01-04T13:49:06.419143+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRPM3 as Green List (high evidence)","entity_name":"TRPM3","entity_type":"gene"},{"created":"2020-01-04T13:49:06.404982+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm3 has been classified as Green List (High Evidence).","entity_name":"TRPM3","entity_type":"gene"},{"created":"2020-01-04T13:47:49.180098+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRPM3 as Green List (high evidence)","entity_name":"TRPM3","entity_type":"gene"},{"created":"2020-01-04T13:47:49.161581+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm3 has been classified as Green List (High Evidence).","entity_name":"TRPM3","entity_type":"gene"},{"created":"2020-01-04T13:47:21.662440+11:00","panel_name":"Polymicrogyria and schizencephaly_AustralianGenomics_VCGS","panel_id":18,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP1A2 as ready","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-01-04T13:47:21.637180+11:00","panel_name":"Polymicrogyria and schizencephaly_AustralianGenomics_VCGS","panel_id":18,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp1a2 has been classified as Green List (High Evidence).","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-01-04T13:47:05.538158+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRPM3 was added\ngene: TRPM3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPM3 were set to 31278393\nPhenotypes for gene: TRPM3 were set to Intellectual disability; epilepsy\nReview for gene: TRPM3 was set to GREEN\nAdded comment: 8 unrelated individuals with de novo variants in this gene. Recurrent variant p.(Val837Met) identified in 7/8. \nSources: Literature","entity_name":"TRPM3","entity_type":"gene"},{"created":"2020-01-04T13:45:15.543506+11:00","panel_name":"Polymicrogyria and schizencephaly_AustralianGenomics_VCGS","panel_id":18,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP1A2 were changed from  to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-01-04T13:44:41.626977+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1482","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRPM3 as ready","entity_name":"TRPM3","entity_type":"gene"},{"created":"2020-01-04T13:44:41.614563+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1482","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm3 has been classified as Green List (High Evidence).","entity_name":"TRPM3","entity_type":"gene"},{"created":"2020-01-04T13:44:34.083641+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1482","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRPM3 as Green List (high evidence)","entity_name":"TRPM3","entity_type":"gene"},{"created":"2020-01-04T13:44:34.071131+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1482","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm3 has been classified as Green List (High Evidence).","entity_name":"TRPM3","entity_type":"gene"},{"created":"2020-01-04T13:44:21.739571+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1481","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRPM3 was added\ngene: TRPM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPM3 were set to 31278393\nPhenotypes for gene: TRPM3 were set to Intellectual disability; epilepsy\nReview for gene: TRPM3 was set to GREEN\nAdded comment: 8 unrelated individuals with de novo variants in this gene. Recurrent variant p.(Val837Met) identified in 7/8. \nSources: Literature","entity_name":"TRPM3","entity_type":"gene"},{"created":"2020-01-04T12:56:55.896588+11:00","panel_name":"Polymicrogyria and schizencephaly_AustralianGenomics_VCGS","panel_id":18,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP1A2 were set to ","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-01-04T12:55:38.016376+11:00","panel_name":"Polymicrogyria and schizencephaly_AustralianGenomics_VCGS","panel_id":18,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP1A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-01-04T12:55:02.197796+11:00","panel_name":"Polymicrogyria and schizencephaly_AustralianGenomics_VCGS","panel_id":18,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31608932; Phenotypes: hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-01-04T12:52:09.973856+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1480","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TANC2 as ready","entity_name":"TANC2","entity_type":"gene"},{"created":"2020-01-04T12:52:09.962892+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1480","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tanc2 has been classified as Green List (High Evidence).","entity_name":"TANC2","entity_type":"gene"},{"created":"2020-01-04T12:52:04.311894+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1480","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TANC2 were changed from no OMIM number yet to no OMIM number yet; Intellectual disability; autism; epilepsy; dysmorphism","entity_name":"TANC2","entity_type":"gene"},{"created":"2020-01-04T12:49:55.645345+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN8A as ready","entity_name":"SCN8A","entity_type":"gene"},{"created":"2020-01-04T12:49:55.632298+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn8a has been classified as Green List (High Evidence).","entity_name":"SCN8A","entity_type":"gene"},{"created":"2020-01-04T12:49:52.539027+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCN8A were changed from  to Epileptic encephalopathy, early infantile, 13, MIM# 614558; dominant and recessive","entity_name":"SCN8A","entity_type":"gene"},{"created":"2020-01-04T12:49:23.006711+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCN8A were set to ","entity_name":"SCN8A","entity_type":"gene"},{"created":"2020-01-04T12:48:52.323954+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: SCN8A was changed from  to Other","entity_name":"SCN8A","entity_type":"gene"},{"created":"2020-01-04T12:48:19.686553+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCN8A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SCN8A","entity_type":"gene"},{"created":"2020-01-04T12:47:41.822753+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31625145; Phenotypes: Epileptic encephalopathy, early infantile, 13, MIM# 614558, dominant and recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SCN8A","entity_type":"gene"},{"created":"2020-01-04T12:41:52.562938+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1479","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NUS1 as ready","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-01-04T12:41:52.550659+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1479","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nus1 has been classified as Green List (High Evidence).","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-01-04T12:41:46.842332+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1479","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NUS1 as Green List (high evidence)","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-01-04T12:41:46.831567+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1479","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nus1 has been classified as Green List (High Evidence).","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-01-04T12:41:33.763330+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1478","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NUS1 was added\ngene: NUS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NUS1 were set to 31656175; 29100083\nPhenotypes for gene: NUS1 were set to Epilepsy; intellectual disability\nReview for gene: NUS1 was set to GREEN\nAdded comment: Five individuals reported with de novo variants in this gene and epilepsy/ID phenotype (4 truncating variants and a small deletion). \nSources: Literature","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-01-04T12:39:56.646768+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.623","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NUS1 as ready","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-01-04T12:39:56.634162+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.623","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nus1 has been classified as Green List (High Evidence).","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-01-04T12:39:44.031449+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.623","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NUS1 were changed from  to Epilepsy; intellectual disability","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-01-04T12:39:26.644605+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.622","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NUS1 were set to ","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-01-04T12:39:09.944421+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.621","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NUS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-01-04T12:38:02.904690+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NUS1 as ready","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-01-04T12:38:02.893202+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nus1 has been classified as Green List (High Evidence).","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-01-04T12:37:58.865442+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NUS1 as Green List (high evidence)","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-01-04T12:37:58.854105+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nus1 has been classified as Green List (High Evidence).","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-01-04T12:36:48.739855+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NUS1 was added\ngene: NUS1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NUS1 were set to 31656175; 29100083\nPhenotypes for gene: NUS1 were set to Epilepsy; intellectual disability\nReview for gene: NUS1 was set to GREEN\nAdded comment: Five individuals reported with de novo variants in this gene and epilepsy/ID phenotype (4 truncating variants and a small deletion). \nSources: Literature","entity_name":"NUS1","entity_type":"gene"},{"created":"2020-01-04T12:07:26.958358+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UGP2 as ready","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T12:07:26.947135+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ugp2 has been classified as Green List (High Evidence).","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T12:05:53.627191+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UGP2 as Green List (high evidence)","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T12:05:53.616065+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ugp2 has been classified as Green List (High Evidence).","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T12:05:17.789905+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UGP2 was added\ngene: UGP2 was added to Microcephaly_VCGS. Sources: Literature\nMode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGP2 were set to 31820119\nPhenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly\nAdded comment: 22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain. \nSources: Literature","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T12:05:00.447156+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1477","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UGP2 as ready","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T12:05:00.407435+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1477","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ugp2 has been classified as Green List (High Evidence).","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T12:04:27.130640+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1477","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UGP2 as Green List (high evidence)","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T12:04:27.117168+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1477","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ugp2 has been classified as Green List (High Evidence).","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T12:03:17.383282+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.620","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UGP2 as ready","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T12:03:17.372853+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.620","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ugp2 has been classified as Green List (High Evidence).","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T12:03:14.699754+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1476","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UGP2 was added\ngene: UGP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGP2 were set to 31820119\nPhenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly\nReview for gene: UGP2 was set to GREEN\nAdded comment: 22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain. \nSources: Literature","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T12:02:01.713714+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.620","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UGP2 as Green List (high evidence)","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T12:02:01.699007+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.620","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ugp2 has been classified as Green List (High Evidence).","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T12:01:22.516811+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UGP2 as ready","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T12:01:22.504708+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ugp2 has been classified as Green List (High Evidence).","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T12:01:18.813078+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.619","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UGP2 was added\ngene: UGP2 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGP2 were set to 31820119\nPhenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly\nReview for gene: UGP2 was set to GREEN\nAdded comment: 22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain. \nSources: Literature","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T12:00:59.152211+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UGP2 as Green List (high evidence)","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T12:00:59.141227+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ugp2 has been classified as Green List (High Evidence).","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T11:57:45.914490+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UGP2 was added\ngene: UGP2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGP2 were set to 31820119\nPhenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly\nReview for gene: UGP2 was set to GREEN\nAdded comment: 22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain. \nSources: Literature","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-01-04T11:57:26.819332+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STXBP1 as ready","entity_name":"STXBP1","entity_type":"gene"},{"created":"2020-01-04T11:57:26.803804+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stxbp1 has been classified as Green List (High Evidence).","entity_name":"STXBP1","entity_type":"gene"},{"created":"2020-01-04T11:55:08.327880+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STXBP1 were set to 31855252","entity_name":"STXBP1","entity_type":"gene"},{"created":"2020-01-04T11:54:14.596771+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STXBP1 were changed from  to Epileptic encephalopathy, early infantile, 4, MIM#612164","entity_name":"STXBP1","entity_type":"gene"},{"created":"2020-01-04T11:53:20.925630+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STXBP1 were set to ","entity_name":"STXBP1","entity_type":"gene"},{"created":"2020-01-04T11:50:54.621663+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: STXBP1 was changed from Other to Other","entity_name":"STXBP1","entity_type":"gene"},{"created":"2020-01-04T11:50:24.828367+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: STXBP1 was changed from  to Other","entity_name":"STXBP1","entity_type":"gene"}]}