{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1908","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1906","results":[{"created":"2020-03-07T16:31:01.511482+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2428","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MARS2: Rating: RED; Mode of pathogenicity: None; Publications: 25754315; Phenotypes: Combined oxidative phosphorylation deficiency 25, OMIM #616430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MARS2","entity_type":"gene"},{"created":"2020-03-07T16:23:40.567903+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1656","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAPRE2 as ready","entity_name":"MAPRE2","entity_type":"gene"},{"created":"2020-03-07T16:23:40.559260+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1656","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapre2 has been classified as Green List (High Evidence).","entity_name":"MAPRE2","entity_type":"gene"},{"created":"2020-03-07T16:23:29.302649+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1656","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAPRE2 were changed from  to Symmetric circumferential skin creases, congenital, 2, MIM# 616734","entity_name":"MAPRE2","entity_type":"gene"},{"created":"2020-03-07T16:23:15.935937+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1655","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAPRE2 were set to ","entity_name":"MAPRE2","entity_type":"gene"},{"created":"2020-03-07T16:22:59.749293+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1654","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAPRE2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"MAPRE2","entity_type":"gene"},{"created":"2020-03-07T16:22:37.875021+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1653","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAPRE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26637975; Phenotypes: Symmetric circumferential skin creases, congenital, 2, MIM# 616734; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"MAPRE2","entity_type":"gene"},{"created":"2020-03-07T16:20:18.928319+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2428","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAPRE2 as ready","entity_name":"MAPRE2","entity_type":"gene"},{"created":"2020-03-07T16:20:18.919479+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2428","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapre2 has been classified as Green List (High Evidence).","entity_name":"MAPRE2","entity_type":"gene"},{"created":"2020-03-07T16:20:11.421482+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2428","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAPRE2 as Green List (high evidence)","entity_name":"MAPRE2","entity_type":"gene"},{"created":"2020-03-07T16:20:11.408520+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2428","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapre2 has been classified as Green List (High Evidence).","entity_name":"MAPRE2","entity_type":"gene"},{"created":"2020-03-07T16:19:37.697141+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2427","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAPRE2 was added\ngene: MAPRE2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: MAPRE2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: MAPRE2 were set to 26637975\nPhenotypes for gene: MAPRE2 were set to Symmetric circumferential skin creases, congenital, 2, MIM# 616734\nReview for gene: MAPRE2 was set to GREEN\nAdded comment: ID is part of the phenotype, more severe in those with bi-allelic variants. \nSources: Expert list","entity_name":"MAPRE2","entity_type":"gene"},{"created":"2020-03-07T14:55:19.779355+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1653","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PURA as ready","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-07T14:55:19.766074+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1653","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pura has been classified as Green List (High Evidence).","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-07T14:54:48.374917+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1653","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PURA were changed from  to Mental retardation, autosomal dominant 31, MIM# 616158","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-07T14:54:44.062777+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1653","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PURA were set to 25439098; 25342064; 12972605","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-07T14:54:33.019123+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1652","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PURA were set to ","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-07T14:54:19.112017+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1651","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PURA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-07T14:52:59.752651+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1650","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PURA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439098, 25342064, 12972605; Phenotypes: Mental retardation, autosomal dominant 31, MIM# 616158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-07T14:50:21.203292+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.630","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PURA as ready","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-07T14:50:21.187560+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.630","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pura has been classified as Green List (High Evidence).","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-07T14:49:46.577983+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.630","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PURA were changed from  to Mental retardation, autosomal dominant 31, MIM# 616158","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-07T14:49:21.427202+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2426","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PURA as ready","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-07T14:49:21.418427+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2426","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pura has been classified as Green List (High Evidence).","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-07T14:48:42.178452+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2426","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PURA were changed from  to Mental retardation, autosomal dominant 31, MIM# 616158","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-07T14:48:30.331679+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.629","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PURA were set to ","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-07T14:47:42.730697+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.628","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PURA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-07T14:47:11.973033+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2425","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PURA were set to ","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-07T14:46:45.643042+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.627","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PURA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439098, 25342064, 12972605; Phenotypes: Mental retardation, autosomal dominant 31, MIM# 616158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-07T14:46:31.678364+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2424","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PURA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-07T14:45:25.888712+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2423","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PURA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439098, 25342064, 12972605; Phenotypes: Mental retardation, autosomal dominant 31, MIM# 616158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PURA","entity_type":"gene"},{"created":"2020-03-06T20:51:40.937447+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BPTF as ready","entity_name":"BPTF","entity_type":"gene"},{"created":"2020-03-06T20:51:40.929083+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bptf has been classified as Green List (High Evidence).","entity_name":"BPTF","entity_type":"gene"},{"created":"2020-03-06T20:50:59.200782+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BPTF were changed from  to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755","entity_name":"BPTF","entity_type":"gene"},{"created":"2020-03-06T20:50:36.170592+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BPTF were set to ","entity_name":"BPTF","entity_type":"gene"},{"created":"2020-03-06T20:50:14.489849+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BPTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BPTF","entity_type":"gene"},{"created":"2020-03-06T20:49:42.051177+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BPTF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942966; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BPTF","entity_type":"gene"},{"created":"2020-03-06T20:47:31.864883+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2423","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BPTF as ready","entity_name":"BPTF","entity_type":"gene"},{"created":"2020-03-06T20:47:31.855526+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2423","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bptf has been classified as Green List (High Evidence).","entity_name":"BPTF","entity_type":"gene"},{"created":"2020-03-06T20:47:26.042897+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2423","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BPTF were changed from  to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755","entity_name":"BPTF","entity_type":"gene"},{"created":"2020-03-06T20:47:00.378946+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2422","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BPTF were set to ","entity_name":"BPTF","entity_type":"gene"},{"created":"2020-03-06T20:46:33.200145+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2421","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BPTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BPTF","entity_type":"gene"},{"created":"2020-03-06T20:45:58.571634+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2420","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BPTF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942966; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BPTF","entity_type":"gene"},{"created":"2020-03-06T20:44:44.058814+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1650","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BPTF as ready","entity_name":"BPTF","entity_type":"gene"},{"created":"2020-03-06T20:44:44.045589+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1650","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bptf has been classified as Green List (High Evidence).","entity_name":"BPTF","entity_type":"gene"},{"created":"2020-03-06T20:44:29.534166+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1650","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BPTF were changed from  to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755","entity_name":"BPTF","entity_type":"gene"},{"created":"2020-03-06T20:43:55.144897+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1649","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BPTF were set to ","entity_name":"BPTF","entity_type":"gene"},{"created":"2020-03-06T20:43:37.676411+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1648","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BPTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BPTF","entity_type":"gene"},{"created":"2020-03-06T20:42:24.355102+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIO as ready","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:42:24.341912+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trio has been classified as Red List (Low Evidence).","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:42:19.402255+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRIO were changed from  to Mental retardation, autosomal dominant 44, MIM# 617061","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:41:37.397858+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRIO were set to ","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:41:18.182573+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRIO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:40:30.574519+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRIO as Red List (low evidence)","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:40:30.561140+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trio has been classified as Red List (Low Evidence).","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:39:57.855510+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRIO: Rating: RED; Mode of pathogenicity: None; Publications: 26721934, 32109419; Phenotypes: Mental retardation, autosomal dominant 44, MIM# 617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:33:59.605930+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1647","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIO as ready","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:33:59.597200+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1647","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trio has been classified as Green List (High Evidence).","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:33:52.024360+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1647","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRIO were changed from  to Mental retardation, autosomal dominant 44, MIM# 617061","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:33:35.316811+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1646","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRIO were set to ","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:33:19.745322+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1645","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRIO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:32:57.939227+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1644","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRIO: Rating: GREEN; Mode of pathogenicity: None; Publications: 26721934, 32109419; Phenotypes: Mental retardation, autosomal dominant 44, MIM# 617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:29:20.264592+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIO as ready","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:29:20.255462+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trio has been classified as Green List (High Evidence).","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:29:15.740479+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRIO were changed from  to Mental retardation, autosomal dominant 44, MIM# 617061","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:28:52.093134+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRIO were set to ","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:28:27.306049+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRIO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:27:50.623309+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2420","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: The nonsense mutations are spread along the TRIO sequence, and affected individuals show variable neurodevelopmental phenotypes. In contrast, missense variants cluster into two mutational hotspots in the TRIO sequence, one in the seventh spectrin repeat and one in the RAC1-activating GEFD1.; to: The nonsense mutations are spread along the TRIO sequence, and affected individuals show variable neurodevelopmental phenotypes. In contrast, missense variants cluster into two mutational hotspots in the TRIO sequence, one in the seventh spectrin repeat and one in the RAC1-activating GEFD1. Individuals with a pathogenic variant in the seventh spectrin repeat have a more severe ID associated with macrocephaly than do most individuals with GEFD1 variants, who display milder ID and microcephaly.","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:27:36.655514+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRIO: Rating: GREEN; Mode of pathogenicity: None; Publications: 26721934, 32109419; Phenotypes: Mental retardation, autosomal dominant 44, MIM# 617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:25:04.885723+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2420","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIO as ready","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:25:04.872837+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2420","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trio has been classified as Green List (High Evidence).","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:24:58.950599+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2420","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRIO were changed from  to Mental retardation, autosomal dominant 44, MIM# 617061","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:24:27.761066+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2419","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRIO were set to ","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:23:57.562520+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2418","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRIO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T20:23:22.697775+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2417","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRIO: Rating: GREEN; Mode of pathogenicity: None; Publications: 26721934, 32109419; Phenotypes: Mental retardation, autosomal dominant 44, MIM# 617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRIO","entity_type":"gene"},{"created":"2020-03-06T19:05:34.932560+11:00","panel_name":"Long QT Syndrome","panel_id":131,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CALM3 as ready","entity_name":"CALM3","entity_type":"gene"},{"created":"2020-03-06T19:05:34.923084+11:00","panel_name":"Long QT Syndrome","panel_id":131,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: calm3 has been classified as Green List (High Evidence).","entity_name":"CALM3","entity_type":"gene"},{"created":"2020-03-06T19:05:30.820599+11:00","panel_name":"Long QT Syndrome","panel_id":131,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CALM3 as Green List (high evidence)","entity_name":"CALM3","entity_type":"gene"},{"created":"2020-03-06T19:05:30.811436+11:00","panel_name":"Long QT Syndrome","panel_id":131,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: calm3 has been classified as Green List (High Evidence).","entity_name":"CALM3","entity_type":"gene"},{"created":"2020-03-06T19:05:02.361097+11:00","panel_name":"Long QT Syndrome","panel_id":131,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CALM3 was added\ngene: CALM3 was added to Long QT Syndrome. Sources: Expert list\nMode of inheritance for gene: CALM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CALM3 were set to 25460178; 31454269\nPhenotypes for gene: CALM3 were set to Long QT syndrome 16, MIM#\t618782\nReview for gene: CALM3 was set to GREEN\nAdded comment: Sources: Expert list","entity_name":"CALM3","entity_type":"gene"},{"created":"2020-03-06T19:02:42.918206+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CALM3 as Red List (low evidence)","entity_name":"CALM3","entity_type":"gene"},{"created":"2020-03-06T19:02:42.909524+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: calm3 has been classified as Red List (Low Evidence).","entity_name":"CALM3","entity_type":"gene"},{"created":"2020-03-06T19:02:11.954799+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CALM3: Rating: RED; Mode of pathogenicity: None; Publications: 27516456; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic 6 618782; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CALM3","entity_type":"gene"},{"created":"2020-03-06T19:01:29.853189+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CALM3 as ready","entity_name":"CALM3","entity_type":"gene"},{"created":"2020-03-06T19:01:29.839895+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: calm3 has been classified as Green List (High Evidence).","entity_name":"CALM3","entity_type":"gene"},{"created":"2020-03-06T19:00:34.149626+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CALM3 were changed from  to Ventricular tachycardia, catecholaminergic polymorphic 6, MIM#\t618782","entity_name":"CALM3","entity_type":"gene"},{"created":"2020-03-06T19:00:09.516710+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CALM3 were set to 31454269; 27516456","entity_name":"CALM3","entity_type":"gene"},{"created":"2020-03-06T18:58:38.025300+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CALM3 were set to ","entity_name":"CALM3","entity_type":"gene"},{"created":"2020-03-06T18:56:57.215400+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CALM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CALM3","entity_type":"gene"},{"created":"2020-03-06T18:56:00.291542+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAN1B1 as ready","entity_name":"MAN1B1","entity_type":"gene"},{"created":"2020-03-06T18:56:00.282386+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: man1b1 has been classified as Green List (High Evidence).","entity_name":"MAN1B1","entity_type":"gene"},{"created":"2020-03-06T18:55:54.728120+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAN1B1 were changed from  to Mental retardation, autosomal recessive 15, MIM#614202","entity_name":"MAN1B1","entity_type":"gene"},{"created":"2020-03-06T18:55:19.029599+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAN1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAN1B1","entity_type":"gene"},{"created":"2020-03-06T18:54:50.875211+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAN1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 15, MIM#614202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAN1B1","entity_type":"gene"},{"created":"2020-03-06T18:54:28.078717+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2417","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAN1B1 as ready","entity_name":"MAN1B1","entity_type":"gene"},{"created":"2020-03-06T18:54:28.065186+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2417","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: man1b1 has been classified as Green List (High Evidence).","entity_name":"MAN1B1","entity_type":"gene"},{"created":"2020-03-06T18:54:22.564110+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2417","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAN1B1 were changed from  to Mental retardation, autosomal recessive 15, MIM#614202","entity_name":"MAN1B1","entity_type":"gene"},{"created":"2020-03-06T18:53:54.456173+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2416","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAN1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAN1B1","entity_type":"gene"},{"created":"2020-03-06T18:53:17.895292+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2415","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAN1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 15, MIM#614202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAN1B1","entity_type":"gene"},{"created":"2020-03-06T18:52:08.638562+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1644","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAN1B1 as ready","entity_name":"MAN1B1","entity_type":"gene"}]}