{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1999","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1997","results":[{"created":"2020-01-07T20:55:55.246262+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.708","user_name":"Sue White","item_type":"entity","text":"Classified gene: ATP2B2 as Green List (high evidence)","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2020-01-07T20:55:55.239903+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.708","user_name":"Sue White","item_type":"entity","text":"Gene: atp2b2 has been classified as Green List (High Evidence).","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2020-01-07T20:55:28.210489+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.707","user_name":"Sue White","item_type":"entity","text":"gene: ATP2B2 was added\ngene: ATP2B2 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ATP2B2 were set to progressive sensorineural deafness\nPenetrance for gene: ATP2B2 were set to unknown\nReview for gene: ATP2B2 was set to GREEN\ngene: ATP2B2 was marked as current diagnostic\nAdded comment: Sources: Literature","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2020-01-07T20:50:43.005628+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.226","user_name":"Sue White","item_type":"entity","text":"Marked gene: ATP2B2 as ready","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2020-01-07T20:50:42.999177+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.226","user_name":"Sue White","item_type":"entity","text":"Gene: atp2b2 has been classified as Green List (High Evidence).","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2020-01-07T20:50:33.494957+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.226","user_name":"Sue White","item_type":"entity","text":"Classified gene: ATP2B2 as Green List (high evidence)","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2020-01-07T20:50:33.488231+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.226","user_name":"Sue White","item_type":"entity","text":"Gene: atp2b2 has been classified as Green List (High Evidence).","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2020-01-07T20:36:47.020035+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.225","user_name":"Sue White","item_type":"entity","text":"gene: ATP2B2 was added\ngene: ATP2B2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP2B2 were set to 30535804\nPhenotypes for gene: ATP2B2 were set to progressive sensorineural deafness\nPenetrance for gene: ATP2B2 were set to Incomplete\nReview for gene: ATP2B2 was set to GREEN\nAdded comment: onset in first decade\r\nLOF \nSources: Literature","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2020-01-07T20:08:13.856167+11:00","panel_name":"Incidentalome_VCGS","panel_id":126,"panel_version":"0.6","user_name":"Sue White","item_type":"entity","text":"Marked gene: RABL3 as ready","entity_name":"RABL3","entity_type":"gene"},{"created":"2020-01-07T20:08:13.849760+11:00","panel_name":"Incidentalome_VCGS","panel_id":126,"panel_version":"0.6","user_name":"Sue White","item_type":"entity","text":"Gene: rabl3 has been classified as Green List (High Evidence).","entity_name":"RABL3","entity_type":"gene"},{"created":"2020-01-07T20:08:10.329921+11:00","panel_name":"Incidentalome_VCGS","panel_id":126,"panel_version":"0.6","user_name":"Sue White","item_type":"entity","text":"Classified gene: RABL3 as Green List (high evidence)","entity_name":"RABL3","entity_type":"gene"},{"created":"2020-01-07T20:08:10.319178+11:00","panel_name":"Incidentalome_VCGS","panel_id":126,"panel_version":"0.6","user_name":"Sue White","item_type":"entity","text":"Gene: rabl3 has been classified as Green List (High Evidence).","entity_name":"RABL3","entity_type":"gene"},{"created":"2020-01-07T20:03:32.252713+11:00","panel_name":"Incidentalome_VCGS","panel_id":126,"panel_version":"0.5","user_name":"Sue White","item_type":"entity","text":"gene: RABL3 was added\ngene: RABL3 was added to Incidentalome_VCGS. Sources: Literature\nMode of inheritance for gene: RABL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RABL3 were set to 31406347\nPhenotypes for gene: RABL3 were set to pancreatic carcinoma\nPenetrance for gene: RABL3 were set to unknown\nReview for gene: RABL3 was set to GREEN\nAdded comment: germline truncating variants associated with increased risk of pancreatic carcinoma \nSources: Literature","entity_name":"RABL3","entity_type":"gene"},{"created":"2020-01-07T19:42:11.102064+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.706","user_name":"Sue White","item_type":"entity","text":"Marked gene: NPM1 as ready","entity_name":"NPM1","entity_type":"gene"},{"created":"2020-01-07T19:42:11.095598+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.706","user_name":"Sue White","item_type":"entity","text":"Gene: npm1 has been classified as Green List (High Evidence).","entity_name":"NPM1","entity_type":"gene"},{"created":"2020-01-07T19:42:02.562863+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.706","user_name":"Sue White","item_type":"entity","text":"Classified gene: NPM1 as Green List (high evidence)","entity_name":"NPM1","entity_type":"gene"},{"created":"2020-01-07T19:42:02.556517+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.706","user_name":"Sue White","item_type":"entity","text":"Gene: npm1 has been classified as Green List (High Evidence).","entity_name":"NPM1","entity_type":"gene"},{"created":"2020-01-07T19:41:36.565709+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.705","user_name":"Sue White","item_type":"entity","text":"gene: NPM1 was added\ngene: NPM1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NPM1 were set to 31570891\nPhenotypes for gene: NPM1 were set to radial ray defects; short stature; nail dsytrophy; bone marrow failure\nPenetrance for gene: NPM1 were set to unknown\nReview for gene: NPM1 was set to GREEN\nAdded comment: heterozygous variants cause dyskeratosis congenita \nSources: Literature","entity_name":"NPM1","entity_type":"gene"},{"created":"2020-01-07T19:34:14.872252+11:00","panel_name":"Radial Ray Abnormalities_VCGS","panel_id":163,"panel_version":"0.3","user_name":"Sue White","item_type":"entity","text":"Classified gene: NPM1 as Green List (high evidence)","entity_name":"NPM1","entity_type":"gene"},{"created":"2020-01-07T19:34:14.852765+11:00","panel_name":"Radial Ray Abnormalities_VCGS","panel_id":163,"panel_version":"0.3","user_name":"Sue White","item_type":"entity","text":"Gene: npm1 has been classified as Green List (High Evidence).","entity_name":"NPM1","entity_type":"gene"},{"created":"2020-01-07T19:33:38.200517+11:00","panel_name":"Radial Ray Abnormalities_VCGS","panel_id":163,"panel_version":"0.2","user_name":"Sue White","item_type":"entity","text":"Classified gene: NPM1 as Green List (high evidence)","entity_name":"NPM1","entity_type":"gene"},{"created":"2020-01-07T19:33:38.191746+11:00","panel_name":"Radial Ray Abnormalities_VCGS","panel_id":163,"panel_version":"0.2","user_name":"Sue White","item_type":"entity","text":"Gene: npm1 has been classified as Green List (High Evidence).","entity_name":"NPM1","entity_type":"gene"},{"created":"2020-01-07T19:33:31.074726+11:00","panel_name":"Radial Ray Abnormalities_VCGS","panel_id":163,"panel_version":"0.1","user_name":"Sue White","item_type":"entity","text":"Marked gene: NPM1 as ready","entity_name":"NPM1","entity_type":"gene"},{"created":"2020-01-07T19:33:31.065557+11:00","panel_name":"Radial Ray Abnormalities_VCGS","panel_id":163,"panel_version":"0.1","user_name":"Sue White","item_type":"entity","text":"Gene: npm1 has been classified as Red List (Low Evidence).","entity_name":"NPM1","entity_type":"gene"},{"created":"2020-01-07T19:29:44.942604+11:00","panel_name":"Radial Ray Abnormalities_VCGS","panel_id":163,"panel_version":"0.1","user_name":"Sue White","item_type":"entity","text":"gene: NPM1 was added\ngene: NPM1 was added to Radial Ray Abnormalities_VCGS. Sources: Literature\nMode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NPM1 were set to 31570891\nPhenotypes for gene: NPM1 were set to radial ray defects; short stature; nail dsytrophy; bone marrow failure\nPenetrance for gene: NPM1 were set to unknown\nReview for gene: NPM1 was set to GREEN\ngene: NPM1 was marked as current diagnostic\nAdded comment: heterozygous variants cause dyskeratosis congenita phenotype \nSources: Literature","entity_name":"NPM1","entity_type":"gene"},{"created":"2020-01-07T19:14:59.602667+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-01-07T19:11:13.145359+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP5A1 as Amber List (moderate evidence)","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-01-07T19:11:13.138533+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5a1 has been classified as Amber List (Moderate Evidence).","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-01-07T19:10:34.109241+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23599390; Phenotypes: Combined oxidative phosphorylation deficiency 22 616045, Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-01-07T19:08:46.147142+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP5A1 as ready","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-01-07T19:08:46.138520+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5a1 has been classified as Amber List (Moderate Evidence).","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-01-07T19:08:41.695185+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP5A1 were changed from Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-01-07T19:08:11.047091+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP5A1 were changed from  to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-01-07T19:07:41.909475+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP5A1 were set to ","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-01-07T19:04:49.420583+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-01-07T19:04:14.078343+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP5A1 as Amber List (moderate evidence)","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-01-07T19:04:14.028262+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5a1 has been classified as Amber List (Moderate Evidence).","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-01-07T19:03:34.944732+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23599390; Phenotypes: Combined oxidative phosphorylation deficiency 22 616045, Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-01-07T18:58:08.960855+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASAH1 as Green List (high evidence)","entity_name":"ASAH1","entity_type":"gene"},{"created":"2020-01-07T18:58:08.952186+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asah1 has been classified as Green List (High Evidence).","entity_name":"ASAH1","entity_type":"gene"},{"created":"2020-01-07T18:57:01.407100+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASAH1 was added\ngene: ASAH1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASAH1 were set to 8955159; 22703880; 27026573\nPhenotypes for gene: ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy, 159950\nReview for gene: ASAH1 was set to GREEN\nAdded comment: AR SMA with progressive myoclonic epilepsy. Zhou et al, 2012 - 6 patients from 3 unrelated families. Family 1 - 3 aff sibs of consang turkish parents - progressive myoclonic epilepsy developed around 7 years of age. Family 2 - 2 Italian sisters - unrelated parents both had geralised epileptic seizures and myoclonic jerks from around 12 years of age. Family 3 - 1 aff girl - myoclonic seizures at age 11. First two families - hom missense variant T42M and family 3, compound het for T42M and a gene deletion, expression studies done. Dyment et al, 2014 - girl born of N.European descent - at 10 years, absence and atonic seizures and myoclonic jerks - compound het (missense and a nonsense) and segregated with disease. \nSources: Expert list","entity_name":"ASAH1","entity_type":"gene"},{"created":"2020-01-07T18:53:36.829618+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARG1 as ready","entity_name":"ARG1","entity_type":"gene"},{"created":"2020-01-07T18:53:36.820897+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arg1 has been classified as Green List (High Evidence).","entity_name":"ARG1","entity_type":"gene"},{"created":"2020-01-07T18:51:58.639321+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARG1 as Green List (high evidence)","entity_name":"ARG1","entity_type":"gene"},{"created":"2020-01-07T18:51:58.632657+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arg1 has been classified as Green List (High Evidence).","entity_name":"ARG1","entity_type":"gene"},{"created":"2020-01-07T18:51:13.578958+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARG1 was added\ngene: ARG1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARG1 were set to 2365823; 29726057\nPhenotypes for gene: ARG1 were set to Argininemia, 207800\nReview for gene: ARG1 was set to GREEN\nAdded comment: Seizures are part of the phenotype of this metabolic condition. \nSources: Expert list","entity_name":"ARG1","entity_type":"gene"},{"created":"2020-01-07T18:41:21.174347+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.704","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP2M1 as ready","entity_name":"AP2M1","entity_type":"gene"},{"created":"2020-01-07T18:41:21.168113+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.704","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap2m1 has been classified as Green List (High Evidence).","entity_name":"AP2M1","entity_type":"gene"},{"created":"2020-01-07T18:41:10.766835+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.704","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP2M1 as Green List (high evidence)","entity_name":"AP2M1","entity_type":"gene"},{"created":"2020-01-07T18:41:10.760142+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.704","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap2m1 has been classified as Green List (High Evidence).","entity_name":"AP2M1","entity_type":"gene"},{"created":"2020-01-07T18:40:50.853325+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.703","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP2M1 was added\ngene: AP2M1 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: AP2M1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AP2M1 were set to 31104773\nPhenotypes for gene: AP2M1 were set to Intellectual developmental disorder 60 with seizures, MIM#\t618587\nReview for gene: AP2M1 was set to GREEN\nAdded comment: Four unrelated individuals reported, recurrent variant, NM_004068.3:c.508C>T or p.Arg170Trp. \nSources: Expert list","entity_name":"AP2M1","entity_type":"gene"},{"created":"2020-01-07T18:38:35.735407+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1523","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP2M1 as ready","entity_name":"AP2M1","entity_type":"gene"},{"created":"2020-01-07T18:38:35.728879+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1523","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap2m1 has been classified as Green List (High Evidence).","entity_name":"AP2M1","entity_type":"gene"},{"created":"2020-01-07T18:38:27.250113+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP2M1 as ready","entity_name":"AP2M1","entity_type":"gene"},{"created":"2020-01-07T18:38:27.243344+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap2m1 has been classified as Green List (High Evidence).","entity_name":"AP2M1","entity_type":"gene"},{"created":"2020-01-07T18:38:23.148307+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1523","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP2M1 as Green List (high evidence)","entity_name":"AP2M1","entity_type":"gene"},{"created":"2020-01-07T18:38:23.141969+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1523","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap2m1 has been classified as Green List (High Evidence).","entity_name":"AP2M1","entity_type":"gene"},{"created":"2020-01-07T18:38:08.519567+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1522","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP2M1 was added\ngene: AP2M1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: AP2M1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AP2M1 were set to 31104773\nPhenotypes for gene: AP2M1 were set to Intellectual developmental disorder 60 with seizures, MIM#\t618587\nReview for gene: AP2M1 was set to GREEN\nAdded comment: Four unrelated individuals reported, recurrent variant, NM_004068.3:c.508C>T or p.Arg170Trp. \nSources: Expert list","entity_name":"AP2M1","entity_type":"gene"},{"created":"2020-01-07T18:37:16.448940+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP2M1 as Green List (high evidence)","entity_name":"AP2M1","entity_type":"gene"},{"created":"2020-01-07T18:37:16.426061+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap2m1 has been classified as Green List (High Evidence).","entity_name":"AP2M1","entity_type":"gene"},{"created":"2020-01-07T18:36:05.495524+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP2M1 as Green List (high evidence)","entity_name":"AP2M1","entity_type":"gene"},{"created":"2020-01-07T18:36:05.484815+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap2m1 has been classified as Green List (High Evidence).","entity_name":"AP2M1","entity_type":"gene"},{"created":"2020-01-07T18:35:25.314315+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP2M1 was added\ngene: AP2M1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: AP2M1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AP2M1 were set to 31104773\nPhenotypes for gene: AP2M1 were set to Intellectual developmental disorder 60 with seizures, MIM#\t618587\nReview for gene: AP2M1 was set to GREEN\nAdded comment: Four unrelated individuals reported, recurrent variant, NM_004068.3:c.508C>T or p.Arg170Trp. \nSources: Expert list","entity_name":"AP2M1","entity_type":"gene"},{"created":"2020-01-07T18:32:10.347738+11:00","panel_name":"Bone Marrow Failure_VCGS","panel_id":56,"panel_version":"0.10","user_name":"Sue White","item_type":"entity","text":"Classified gene: NPM1 as Green List (high evidence)","entity_name":"NPM1","entity_type":"gene"},{"created":"2020-01-07T18:32:10.338065+11:00","panel_name":"Bone Marrow Failure_VCGS","panel_id":56,"panel_version":"0.10","user_name":"Sue White","item_type":"entity","text":"Gene: npm1 has been classified as Green List (High Evidence).","entity_name":"NPM1","entity_type":"gene"},{"created":"2020-01-07T18:31:50.415330+11:00","panel_name":"Bone Marrow Failure_VCGS","panel_id":56,"panel_version":"0.9","user_name":"Sue White","item_type":"entity","text":"Marked gene: NPM1 as ready","entity_name":"NPM1","entity_type":"gene"},{"created":"2020-01-07T18:31:50.398867+11:00","panel_name":"Bone Marrow Failure_VCGS","panel_id":56,"panel_version":"0.9","user_name":"Sue White","item_type":"entity","text":"Gene: npm1 has been classified as Red List (Low Evidence).","entity_name":"NPM1","entity_type":"gene"},{"created":"2020-01-07T18:31:21.364511+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.702","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALKBH8 as Amber List (moderate evidence)","entity_name":"ALKBH8","entity_type":"gene"},{"created":"2020-01-07T18:31:21.354483+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.702","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alkbh8 has been classified as Amber List (Moderate Evidence).","entity_name":"ALKBH8","entity_type":"gene"},{"created":"2020-01-07T18:30:53.167225+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1521","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALKBH8 as Amber List (moderate evidence)","entity_name":"ALKBH8","entity_type":"gene"},{"created":"2020-01-07T18:30:53.159391+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1521","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alkbh8 has been classified as Amber List (Moderate Evidence).","entity_name":"ALKBH8","entity_type":"gene"},{"created":"2020-01-07T18:30:21.466275+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALKBH8 as ready","entity_name":"ALKBH8","entity_type":"gene"},{"created":"2020-01-07T18:30:21.459645+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alkbh8 has been classified as Amber List (Moderate Evidence).","entity_name":"ALKBH8","entity_type":"gene"},{"created":"2020-01-07T18:30:09.915068+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALKBH8 as Amber List (moderate evidence)","entity_name":"ALKBH8","entity_type":"gene"},{"created":"2020-01-07T18:30:09.908394+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alkbh8 has been classified as Amber List (Moderate Evidence).","entity_name":"ALKBH8","entity_type":"gene"},{"created":"2020-01-07T18:29:36.908653+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALKBH8 as Amber List (moderate evidence)","entity_name":"ALKBH8","entity_type":"gene"},{"created":"2020-01-07T18:29:36.901737+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alkbh8 has been classified as Amber List (Moderate Evidence).","entity_name":"ALKBH8","entity_type":"gene"},{"created":"2020-01-07T18:29:31.025689+11:00","panel_name":"Bone Marrow Failure_VCGS","panel_id":56,"panel_version":"0.9","user_name":"Sue White","item_type":"entity","text":"gene: NPM1 was added\ngene: NPM1 was added to Bone Marrow Failure_VCGS. Sources: Literature\nMode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NPM1 were set to 31570891\nPhenotypes for gene: NPM1 were set to radial ray defects; short stature; nail dsytrophy; bone marrow failure\nPenetrance for gene: NPM1 were set to unknown\nMode of pathogenicity for gene: NPM1 was set to Other\nReview for gene: NPM1 was set to GREEN\nAdded comment: heterozygous presumed LOF variants cause a dyskeratosis congenita phenotype \nSources: Literature","entity_name":"NPM1","entity_type":"gene"},{"created":"2020-01-07T18:28:27.235679+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALKBH8 was added\ngene: ALKBH8 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: ALKBH8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALKBH8 were set to 31079898\nPhenotypes for gene: ALKBH8 were set to Intellectual developmental disorder, autosomal recessive 71, MIM#\t618504\nReview for gene: ALKBH8 was set to AMBER\nAdded comment: Two unrelated families reported, 6/7 affected individuals had seizures. Some functional data. \nSources: Expert list","entity_name":"ALKBH8","entity_type":"gene"},{"created":"2020-01-07T16:15:09.909692+11:00","panel_name":"Anophthalmia, microphthalmia, coloboma_VCGS","panel_id":42,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Tag somatic tag was added to gene: RHOA.","entity_name":"RHOA","entity_type":"gene"},{"created":"2020-01-07T16:14:32.596846+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.701","user_name":"Zornitza Stark","item_type":"entity","text":"Tag somatic tag was added to gene: RHOA.","entity_name":"RHOA","entity_type":"gene"},{"created":"2020-01-07T16:13:56.151873+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AKT1 as ready","entity_name":"AKT1","entity_type":"gene"},{"created":"2020-01-07T16:13:56.142949+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akt1 has been classified as Green List (High Evidence).","entity_name":"AKT1","entity_type":"gene"},{"created":"2020-01-07T16:13:42.996875+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AKT1 were changed from  to Proteus syndrome, somatic, MIM# 176920","entity_name":"AKT1","entity_type":"gene"},{"created":"2020-01-07T16:13:11.672457+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AKT1 were set to ","entity_name":"AKT1","entity_type":"gene"},{"created":"2020-01-07T16:12:33.907325+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AKT1 was changed from Unknown to Other","entity_name":"AKT1","entity_type":"gene"},{"created":"2020-01-07T16:11:56.046545+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Tag somatic tag was added to gene: AKT1.","entity_name":"AKT1","entity_type":"gene"},{"created":"2020-01-07T16:11:42.954211+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21793738; Phenotypes: Proteus syndrome, somatic, MIM# 176920; Mode of inheritance: Other","entity_name":"AKT1","entity_type":"gene"},{"created":"2020-01-07T16:03:44.137144+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASXL3 as ready","entity_name":"ASXL3","entity_type":"gene"},{"created":"2020-01-07T16:03:44.128594+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asxl3 has been classified as Green List (High Evidence).","entity_name":"ASXL3","entity_type":"gene"},{"created":"2020-01-07T16:03:34.509372+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ASXL3 were changed from  to Bainbridge-Ropers syndrome (OMIM # 615485)","entity_name":"ASXL3","entity_type":"gene"},{"created":"2020-01-07T16:03:01.791839+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ASXL3 were set to ","entity_name":"ASXL3","entity_type":"gene"},{"created":"2020-01-07T16:02:26.111430+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ASXL3","entity_type":"gene"},{"created":"2020-01-07T16:01:46.877822+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ASXL3","entity_type":"gene"},{"created":"2020-01-07T16:01:41.258519+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.701","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASXL3 as ready","entity_name":"ASXL3","entity_type":"gene"},{"created":"2020-01-07T16:01:41.251864+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.701","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asxl3 has been classified as Green List (High Evidence).","entity_name":"ASXL3","entity_type":"gene"},{"created":"2020-01-07T16:01:14.956172+11:00","panel_name":"Autism_VCGS","panel_id":51,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASXL3 as ready","entity_name":"ASXL3","entity_type":"gene"},{"created":"2020-01-07T16:01:14.947864+11:00","panel_name":"Autism_VCGS","panel_id":51,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asxl3 has been classified as Green List (High Evidence).","entity_name":"ASXL3","entity_type":"gene"},{"created":"2020-01-07T16:01:07.630246+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.701","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ASXL3 were changed from  to Bainbridge-Ropers syndrome (OMIM # 615485)","entity_name":"ASXL3","entity_type":"gene"},{"created":"2020-01-07T16:00:34.539810+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.700","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ASXL3 were set to ","entity_name":"ASXL3","entity_type":"gene"}]}