{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2004","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2002","results":[{"created":"2020-01-05T13:08:19.308292+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1503","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EDC3 was added\ngene: EDC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: EDC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EDC3 were set to 29685133; 25701870\nPhenotypes for gene: EDC3 were set to Mental retardation, autosomal recessive 50, MIM#\t616460\nReview for gene: EDC3 was set to RED\nAdded comment: Single family reported; some functional data. \nSources: Expert list","entity_name":"EDC3","entity_type":"gene"},{"created":"2020-01-05T13:03:09.277247+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.645","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30308082, 28454995, 27055666, 30697592, 31444731; Phenotypes: Mental retardation, autosomal recessive 55, MIM# 617051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PUS3","entity_type":"gene"},{"created":"2020-01-05T13:01:49.923240+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1502","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PUS3 as ready","entity_name":"PUS3","entity_type":"gene"},{"created":"2020-01-05T13:01:49.917080+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1502","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pus3 has been classified as Green List (High Evidence).","entity_name":"PUS3","entity_type":"gene"},{"created":"2020-01-05T13:01:45.964370+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1502","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PUS3 as Green List (high evidence)","entity_name":"PUS3","entity_type":"gene"},{"created":"2020-01-05T13:01:45.957632+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1502","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pus3 has been classified as Green List (High Evidence).","entity_name":"PUS3","entity_type":"gene"},{"created":"2020-01-05T13:01:31.909235+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1501","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PUS3 was added\ngene: PUS3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PUS3 were set to 30308082; 28454995; 27055666; 30697592; 31444731\nPhenotypes for gene: PUS3 were set to Mental retardation, autosomal recessive 55, MIM#\t617051\nReview for gene: PUS3 was set to GREEN\nAdded comment: Seven individuals from five families reported; two of the families had the same homozygous truncating variant. Variable features reported in addition to ID, including leukoencephalopathy, EE, and nephropathy. \nSources: Expert list","entity_name":"PUS3","entity_type":"gene"},{"created":"2020-01-05T11:11:05.579279+11:00","panel_name":"Aortopathy, Connective tissue disorder_VCGS","panel_id":44,"panel_version":"0.8","user_name":"Sue White","item_type":"entity","text":"gene: ROBO4 was added\ngene: ROBO4 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Literature\nMode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ROBO4 were set to 30455415\nPhenotypes for gene: ROBO4 were set to bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation\nPenetrance for gene: ROBO4 were set to Incomplete\nReview for gene: ROBO4 was set to GREEN\nAdded comment: Sources: Literature","entity_name":"ROBO4","entity_type":"gene"},{"created":"2020-01-05T11:03:28.222840+11:00","panel_name":"Congenital Heart Defect_VCGS","panel_id":76,"panel_version":"0.1","user_name":"Sue White","item_type":"entity","text":"gene: ROBO4 was added\ngene: ROBO4 was added to Congenital Heart Defect_VCGS. Sources: Literature\nMode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ROBO4 were set to 30455415\nPhenotypes for gene: ROBO4 were set to bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation\nPenetrance for gene: ROBO4 were set to Incomplete\nReview for gene: ROBO4 was set to GREEN\nAdded comment: incomplete penetrance \nSources: Literature","entity_name":"ROBO4","entity_type":"gene"},{"created":"2020-01-05T10:23:05.151357+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.645","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF3F as ready","entity_name":"EIF3F","entity_type":"gene"},{"created":"2020-01-05T10:23:05.140439+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.645","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif3f has been classified as Green List (High Evidence).","entity_name":"EIF3F","entity_type":"gene"},{"created":"2020-01-05T10:22:55.812640+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.645","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EIF3F as Green List (high evidence)","entity_name":"EIF3F","entity_type":"gene"},{"created":"2020-01-05T10:22:55.800562+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.645","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif3f has been classified as Green List (High Evidence).","entity_name":"EIF3F","entity_type":"gene"},{"created":"2020-01-05T10:22:35.869439+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.644","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EIF3F was added\ngene: EIF3F was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIF3F were set to 30409806\nPhenotypes for gene: EIF3F were set to Mental retardation, autosomal recessive 67, MIM#\t618295\nReview for gene: EIF3F was set to GREEN\nAdded comment: Nine individuals from 7 families reported, all homozygous for the same missense variant, p.(Phe232Val). This variant is present at 0.12% frequency in non-Finnish Europeans in gnomad (no homozygotes). \nSources: Expert list","entity_name":"EIF3F","entity_type":"gene"},{"created":"2020-01-05T10:20:21.944196+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1500","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF3F as ready","entity_name":"EIF3F","entity_type":"gene"},{"created":"2020-01-05T10:20:21.933528+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1500","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif3f has been classified as Green List (High Evidence).","entity_name":"EIF3F","entity_type":"gene"},{"created":"2020-01-05T10:20:08.685660+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1500","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EIF3F as Green List (high evidence)","entity_name":"EIF3F","entity_type":"gene"},{"created":"2020-01-05T10:20:08.674658+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1500","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif3f has been classified as Green List (High Evidence).","entity_name":"EIF3F","entity_type":"gene"},{"created":"2020-01-05T10:19:54.279354+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1499","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EIF3F was added\ngene: EIF3F was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIF3F were set to 30409806\nPhenotypes for gene: EIF3F were set to Mental retardation, autosomal recessive 67, MIM#\t618295\nReview for gene: EIF3F was set to GREEN\nAdded comment: Nine individuals from 7 families reported, all homozygous for the same missense variant, p.(Phe232Val). This variant is present at 0.12% frequency in non-Finnish Europeans in gnomad (no homozygotes). \nSources: Expert list","entity_name":"EIF3F","entity_type":"gene"},{"created":"2020-01-04T20:44:33.454957+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.643","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RUSC2 as ready","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:44:33.442254+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.643","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rusc2 has been classified as Amber List (Moderate Evidence).","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:43:31.817128+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.643","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RUSC2 were changed from  to Mental retardation, autosomal recessive 61, MIM#\t617773","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:43:14.821713+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.642","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RUSC2 were set to ","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:42:59.436915+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.641","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RUSC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:42:26.340551+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.640","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RUSC2 as Amber List (moderate evidence)","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:42:26.326144+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.640","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rusc2 has been classified as Amber List (Moderate Evidence).","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:42:06.545701+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.639","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RUSC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27612186; Phenotypes: Mental retardation, autosomal recessive 61, MIM# 617773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:41:09.670686+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RUSC2 as ready","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:41:09.649731+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rusc2 has been classified as Amber List (Moderate Evidence).","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:40:02.290171+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RUSC2 were set to ","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:39:31.251781+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RUSC2 were changed from Mental retardation, autosomal recessive 61, MIM#\t617773 to Mental retardation, autosomal recessive 61, MIM#\t617773","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:38:13.566559+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RUSC2 were changed from Mental retardation, autosomal recessive 61, MIM#\t617773 to Mental retardation, autosomal recessive 61, MIM#\t617773","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:38:13.533069+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RUSC2 were changed from  to Mental retardation, autosomal recessive 61, MIM#\t617773","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:37:56.459595+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RUSC2 as ready","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:37:56.443145+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rusc2 has been classified as Amber List (Moderate Evidence).","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:37:20.450371+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RUSC2 were changed from  to Mental retardation, autosomal recessive 61, MIM#\t617773","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:37:15.975092+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RUSC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:36:34.000714+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RUSC2 were set to 27612186","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:36:22.455912+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RUSC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:35:59.495963+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RUSC2 were set to ","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:35:42.724390+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RUSC2 as Amber List (moderate evidence)","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:35:42.707692+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rusc2 has been classified as Amber List (Moderate Evidence).","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:35:13.929868+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RUSC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:34:57.492793+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1498","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RUSC2 as ready","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:34:57.480687+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1498","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rusc2 has been classified as Amber List (Moderate Evidence).","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:34:28.606100+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RUSC2 as Amber List (moderate evidence)","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:34:28.591517+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rusc2 has been classified as Amber List (Moderate Evidence).","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:33:33.356990+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1498","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RUSC2 as Amber List (moderate evidence)","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:33:33.345136+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1498","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rusc2 has been classified as Amber List (Moderate Evidence).","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:33:14.705213+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1497","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RUSC2 was added\ngene: RUSC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: RUSC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RUSC2 were set to 27612186\nPhenotypes for gene: RUSC2 were set to Mental retardation, autosomal recessive 61, MIM#\t617773\nReview for gene: RUSC2 was set to AMBER\nAdded comment: Two unrelated families reported. \nSources: Expert list","entity_name":"RUSC2","entity_type":"gene"},{"created":"2020-01-04T20:28:27.133101+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.639","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSRC1 as ready","entity_name":"RSRC1","entity_type":"gene"},{"created":"2020-01-04T20:28:27.122071+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.639","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsrc1 has been classified as Amber List (Moderate Evidence).","entity_name":"RSRC1","entity_type":"gene"},{"created":"2020-01-04T20:28:10.797244+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.639","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RSRC1 as Amber List (moderate evidence)","entity_name":"RSRC1","entity_type":"gene"},{"created":"2020-01-04T20:28:10.783451+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.639","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsrc1 has been classified as Amber List (Moderate Evidence).","entity_name":"RSRC1","entity_type":"gene"},{"created":"2020-01-04T20:27:48.289767+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.638","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RSRC1 was added\ngene: RSRC1 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: RSRC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RSRC1 were set to 28640246; 29522154\nPhenotypes for gene: RSRC1 were set to Intellectual developmental disorder, autosomal recessive 70, MIM#\t618402\nReview for gene: RSRC1 was set to AMBER\nAdded comment: Two unrelated families reported, 8 affected individuals. \nSources: Expert list","entity_name":"RSRC1","entity_type":"gene"},{"created":"2020-01-04T20:26:12.102959+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1496","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSRC1 as ready","entity_name":"RSRC1","entity_type":"gene"},{"created":"2020-01-04T20:26:12.091217+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1496","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsrc1 has been classified as Amber List (Moderate Evidence).","entity_name":"RSRC1","entity_type":"gene"},{"created":"2020-01-04T20:26:04.989440+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1496","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RSRC1 as Amber List (moderate evidence)","entity_name":"RSRC1","entity_type":"gene"},{"created":"2020-01-04T20:26:04.975166+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1496","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsrc1 has been classified as Amber List (Moderate Evidence).","entity_name":"RSRC1","entity_type":"gene"},{"created":"2020-01-04T20:25:51.330296+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1495","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RSRC1 was added\ngene: RSRC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: RSRC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RSRC1 were set to 28640246; 29522154\nPhenotypes for gene: RSRC1 were set to Intellectual developmental disorder, autosomal recessive 70, MIM#\t618402\nReview for gene: RSRC1 was set to AMBER\nAdded comment: Two unrelated families reported, 8 affected individuals. \nSources: Expert list","entity_name":"RSRC1","entity_type":"gene"},{"created":"2020-01-04T20:23:13.622820+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.637","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: METTL5 as ready","entity_name":"METTL5","entity_type":"gene"},{"created":"2020-01-04T20:23:13.608893+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.637","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mettl5 has been classified as Green List (High Evidence).","entity_name":"METTL5","entity_type":"gene"},{"created":"2020-01-04T20:23:03.869536+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.637","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: METTL5 as Green List (high evidence)","entity_name":"METTL5","entity_type":"gene"},{"created":"2020-01-04T20:23:03.853279+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.637","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mettl5 has been classified as Green List (High Evidence).","entity_name":"METTL5","entity_type":"gene"},{"created":"2020-01-04T20:22:42.231321+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.636","user_name":"Zornitza Stark","item_type":"entity","text":"gene: METTL5 was added\ngene: METTL5 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: METTL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: METTL5 were set to 29302074; 31564433\nPhenotypes for gene: METTL5 were set to Intellectual developmental disorder, autosomal recessive 72, MIM#\t618665\nReview for gene: METTL5 was set to GREEN\nAdded comment: Three unrelated families and animal model. \nSources: Expert list","entity_name":"METTL5","entity_type":"gene"},{"created":"2020-01-04T20:20:29.791012+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1494","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: METTL5 as Green List (high evidence)","entity_name":"METTL5","entity_type":"gene"},{"created":"2020-01-04T20:20:29.778682+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1494","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mettl5 has been classified as Green List (High Evidence).","entity_name":"METTL5","entity_type":"gene"},{"created":"2020-01-04T20:20:11.919181+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1493","user_name":"Zornitza Stark","item_type":"entity","text":"gene: METTL5 was added\ngene: METTL5 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: METTL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: METTL5 were set to 29302074; 31564433\nPhenotypes for gene: METTL5 were set to Intellectual developmental disorder, autosomal recessive 72, MIM#\t618665\nReview for gene: METTL5 was set to GREEN\nAdded comment: Three unrelated families and animal model. \nSources: Expert list","entity_name":"METTL5","entity_type":"gene"},{"created":"2020-01-04T18:28:38.097780+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.635","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CXorf56 as ready","entity_name":"CXorf56","entity_type":"gene"},{"created":"2020-01-04T18:28:38.085467+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.635","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cxorf56 has been classified as Red List (Low Evidence).","entity_name":"CXorf56","entity_type":"gene"},{"created":"2020-01-04T18:28:27.298130+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.635","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CXorf56 was added\ngene: CXorf56 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: CXorf56 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: CXorf56 were set to 29374277\nPhenotypes for gene: CXorf56 were set to Mental retardation, X-linked 107, MIM#\t301013\nReview for gene: CXorf56 was set to RED\nAdded comment: Single multigenerational family reported. \nSources: Expert list","entity_name":"CXorf56","entity_type":"gene"},{"created":"2020-01-04T18:26:27.154591+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1492","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CXorf56 as ready","entity_name":"CXorf56","entity_type":"gene"},{"created":"2020-01-04T18:26:27.141537+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1492","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cxorf56 has been classified as Red List (Low Evidence).","entity_name":"CXorf56","entity_type":"gene"},{"created":"2020-01-04T18:26:15.312029+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1492","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CXorf56 was added\ngene: CXorf56 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: CXorf56 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: CXorf56 were set to 29374277\nPhenotypes for gene: CXorf56 were set to Mental retardation, X-linked 107, MIM#\t301013\nReview for gene: CXorf56 was set to RED\nAdded comment: Single multigenerational family reported. \nSources: Expert list","entity_name":"CXorf56","entity_type":"gene"},{"created":"2020-01-04T18:21:38.624247+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.634","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USP27X as ready","entity_name":"USP27X","entity_type":"gene"},{"created":"2020-01-04T18:21:38.611687+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.634","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp27x has been classified as Amber List (Moderate Evidence).","entity_name":"USP27X","entity_type":"gene"},{"created":"2020-01-04T18:21:28.341971+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.634","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: USP27X as Amber List (moderate evidence)","entity_name":"USP27X","entity_type":"gene"},{"created":"2020-01-04T18:21:28.330659+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.634","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp27x has been classified as Amber List (Moderate Evidence).","entity_name":"USP27X","entity_type":"gene"},{"created":"2020-01-04T18:21:07.103913+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.633","user_name":"Zornitza Stark","item_type":"entity","text":"gene: USP27X was added\ngene: USP27X was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: USP27X were set to 25644381\nPhenotypes for gene: USP27X were set to Mental retardation, X-linked 105, MIM#300984\nReview for gene: USP27X was set to AMBER\nAdded comment: Four individuals from two unrelated families reported. \nSources: Expert list","entity_name":"USP27X","entity_type":"gene"},{"created":"2020-01-04T18:19:24.191178+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1491","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USP27X as ready","entity_name":"USP27X","entity_type":"gene"},{"created":"2020-01-04T18:19:24.177733+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1491","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp27x has been classified as Amber List (Moderate Evidence).","entity_name":"USP27X","entity_type":"gene"},{"created":"2020-01-04T18:19:16.992610+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1491","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: USP27X as Amber List (moderate evidence)","entity_name":"USP27X","entity_type":"gene"},{"created":"2020-01-04T18:19:16.978571+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1491","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp27x has been classified as Amber List (Moderate Evidence).","entity_name":"USP27X","entity_type":"gene"},{"created":"2020-01-04T18:19:00.331912+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1490","user_name":"Zornitza Stark","item_type":"entity","text":"gene: USP27X was added\ngene: USP27X was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: USP27X were set to 25644381\nPhenotypes for gene: USP27X were set to Mental retardation, X-linked 105, MIM#300984\nReview for gene: USP27X was set to AMBER\nAdded comment: Four individuals from two unrelated families reported. \nSources: Expert list","entity_name":"USP27X","entity_type":"gene"},{"created":"2020-01-04T18:15:03.525156+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.632","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLHL15 as ready","entity_name":"KLHL15","entity_type":"gene"},{"created":"2020-01-04T18:15:03.514130+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.632","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl15 has been classified as Amber List (Moderate Evidence).","entity_name":"KLHL15","entity_type":"gene"},{"created":"2020-01-04T18:12:39.279341+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.632","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLHL15 as Amber List (moderate evidence)","entity_name":"KLHL15","entity_type":"gene"},{"created":"2020-01-04T18:12:39.266938+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.632","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl15 has been classified as Amber List (Moderate Evidence).","entity_name":"KLHL15","entity_type":"gene"},{"created":"2020-01-04T18:12:19.516561+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.631","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KLHL15 was added\ngene: KLHL15 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: KLHL15 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: KLHL15 were set to 25644381; 24817631\nPhenotypes for gene: KLHL15 were set to Mental retardation, X-linked 103, MIM#300982\nReview for gene: KLHL15 was set to AMBER\nAdded comment: Two families described: variants maternally inherited in both, one deletion, the other truncating. \nSources: Literature","entity_name":"KLHL15","entity_type":"gene"},{"created":"2020-01-04T18:09:52.324344+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1489","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLHL15 as ready","entity_name":"KLHL15","entity_type":"gene"},{"created":"2020-01-04T18:09:52.310545+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1489","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl15 has been classified as Amber List (Moderate Evidence).","entity_name":"KLHL15","entity_type":"gene"},{"created":"2020-01-04T18:09:41.299172+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1489","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLHL15 as Amber List (moderate evidence)","entity_name":"KLHL15","entity_type":"gene"},{"created":"2020-01-04T18:09:41.284198+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1489","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl15 has been classified as Amber List (Moderate Evidence).","entity_name":"KLHL15","entity_type":"gene"},{"created":"2020-01-04T18:09:28.029502+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1488","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KLHL15 was added\ngene: KLHL15 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: KLHL15 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: KLHL15 were set to 25644381; 24817631\nPhenotypes for gene: KLHL15 were set to Mental retardation, X-linked 103, MIM#300982\nReview for gene: KLHL15 was set to AMBER\nAdded comment: Two families described: variants maternally inherited in both, one deletion, the other truncating. \nSources: Literature","entity_name":"KLHL15","entity_type":"gene"},{"created":"2020-01-04T17:54:55.434144+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.630","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ODC1 as ready","entity_name":"ODC1","entity_type":"gene"},{"created":"2020-01-04T17:54:55.423701+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.630","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":"2020-01-04T17:53:32.458860+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.630","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ODC1 as Green List (high evidence)","entity_name":"ODC1","entity_type":"gene"},{"created":"2020-01-04T17:53:32.446884+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.630","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":"2020-01-04T17:53:11.428071+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.629","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ODC1 was added\ngene: ODC1 was added to Mendeliome_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":"2020-01-04T17:50:43.014848+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":"Marked gene: ODC1 as ready","entity_name":"ODC1","entity_type":"gene"}]}