{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1658","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1656","results":[{"created":"2020-08-24T19:08:57.547088+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DLL1 as Green List (high evidence)","entity_name":"DLL1","entity_type":"gene"},{"created":"2020-08-24T19:08:57.537049+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dll1 has been classified as Green List (High Evidence).","entity_name":"DLL1","entity_type":"gene"},{"created":"2020-08-24T19:08:31.083504+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DLL1 was added\ngene: DLL1 was added to Callosome. Sources: Expert list\nMode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DLL1 were set to 31353024\nPhenotypes for gene: DLL1 were set to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709\nReview for gene: DLL1 was set to GREEN\nAdded comment: 14 individuals from 11 families reported. All 11 patients who underwent brain imaging showed nonspecific and variable abnormalities, including hydrocephalus, ventriculomegaly, thin, short, or dysplastic corpus callosum, subtle cortical dysplasia, and small cerebellum or pons. One patient had periventricular nodular heterotopia. \nSources: Expert list","entity_name":"DLL1","entity_type":"gene"},{"created":"2020-08-24T19:06:54.198736+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLL1 as ready","entity_name":"DLL1","entity_type":"gene"},{"created":"2020-08-24T19:06:54.187178+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dll1 has been classified as Red List (Low Evidence).","entity_name":"DLL1","entity_type":"gene"},{"created":"2020-08-24T19:06:51.718826+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DLL1 were changed from  to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709","entity_name":"DLL1","entity_type":"gene"},{"created":"2020-08-24T19:06:27.107251+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DLL1 were set to ","entity_name":"DLL1","entity_type":"gene"},{"created":"2020-08-24T19:06:01.569857+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DLL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DLL1","entity_type":"gene"},{"created":"2020-08-24T19:05:41.736319+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DLL1 as Red List (low evidence)","entity_name":"DLL1","entity_type":"gene"},{"created":"2020-08-24T19:05:41.727365+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dll1 has been classified as Red List (Low Evidence).","entity_name":"DLL1","entity_type":"gene"},{"created":"2020-08-24T19:05:19.063413+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DLL1: Rating: RED; Mode of pathogenicity: None; Publications: 31353024; Phenotypes: Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DLL1","entity_type":"gene"},{"created":"2020-08-24T19:02:32.199587+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD7 as ready","entity_name":"CHD7","entity_type":"gene"},{"created":"2020-08-24T19:02:32.189063+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd7 has been classified as Green List (High Evidence).","entity_name":"CHD7","entity_type":"gene"},{"created":"2020-08-24T19:02:27.381874+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHD7 as Green List (high evidence)","entity_name":"CHD7","entity_type":"gene"},{"created":"2020-08-24T19:02:27.373678+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd7 has been classified as Green List (High Evidence).","entity_name":"CHD7","entity_type":"gene"},{"created":"2020-08-24T19:01:52.128453+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHD7 was added\ngene: CHD7 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Expert list\nMode of inheritance for gene: CHD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHD7 were set to 11562938; 28805615; 20104611; 17001700\nPhenotypes for gene: CHD7 were set to Smith-Lemli-Opitz syndrome, 270400; alobar holoprosencephaly (HPE)\nReview for gene: CHD7 was set to GREEN\nAdded comment: Reports of HPE phenotype. \nSources: Expert list","entity_name":"CHD7","entity_type":"gene"},{"created":"2020-08-24T18:57:53.482034+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3921","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABRA6 as ready","entity_name":"GABRA6","entity_type":"gene"},{"created":"2020-08-24T18:57:53.473415+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3921","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabra6 has been classified as Red List (Low Evidence).","entity_name":"GABRA6","entity_type":"gene"},{"created":"2020-08-24T18:57:44.594020+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3921","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GABRA6 was added\ngene: GABRA6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GABRA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRA6 were set to 21930603; 29215089; 19429026\nPhenotypes for gene: GABRA6 were set to Benign familial inherited epilepsy; Childhood absence epilepsy\nReview for gene: GABRA6 was set to RED\nAdded comment: One report in a cohort of patients with BFIE. Potential susceptibility allele in CAE. \nSources: Literature","entity_name":"GABRA6","entity_type":"gene"},{"created":"2020-08-24T18:56:00.631287+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.798","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GABRA6 as Red List (low evidence)","entity_name":"GABRA6","entity_type":"gene"},{"created":"2020-08-24T18:56:00.624122+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.798","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabra6 has been classified as Red List (Low Evidence).","entity_name":"GABRA6","entity_type":"gene"},{"created":"2020-08-24T18:54:15.231648+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.797","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GABRA6 as Red List (low evidence)","entity_name":"GABRA6","entity_type":"gene"},{"created":"2020-08-24T18:54:15.221787+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.797","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabra6 has been classified as Red List (Low Evidence).","entity_name":"GABRA6","entity_type":"gene"},{"created":"2020-08-24T18:49:22.762840+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASPM as ready","entity_name":"ASPM","entity_type":"gene"},{"created":"2020-08-24T18:49:22.751538+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aspm has been classified as Green List (High Evidence).","entity_name":"ASPM","entity_type":"gene"},{"created":"2020-08-24T18:49:17.945615+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASPM as Green List (high evidence)","entity_name":"ASPM","entity_type":"gene"},{"created":"2020-08-24T18:49:17.937407+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aspm has been classified as Green List (High Evidence).","entity_name":"ASPM","entity_type":"gene"},{"created":"2020-08-24T18:47:22.178266+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2870","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMTC3 as ready","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:47:22.169342+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2870","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmtc3 has been classified as Green List (High Evidence).","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:47:18.682349+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2870","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMTC3 were changed from  to Lissencephaly 8 (MIM#617255)","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:46:48.884646+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2869","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMTC3 were set to ","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:46:20.586498+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2868","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMTC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:45:53.986114+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2867","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773428, 28973161; Phenotypes: Lissencephaly 8 (MIM#617255); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:45:11.147176+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3920","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMTC3 as ready","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:45:11.136392+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3920","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmtc3 has been classified as Green List (High Evidence).","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:45:04.539227+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3920","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMTC3 were changed from  to Lissencephaly 8 (MIM#617255)","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:44:48.806464+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3919","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMTC3 were set to ","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:44:32.471436+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3918","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMTC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:44:16.461125+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3917","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773428, 28973161; Phenotypes: Lissencephaly 8 (MIM#617255); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:43:11.453441+10:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMTC3 as ready","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:43:11.443564+10:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmtc3 has been classified as Red List (Low Evidence).","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:43:06.571916+10:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMTC3 as Red List (low evidence)","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:43:06.563473+10:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmtc3 has been classified as Red List (Low Evidence).","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:42:09.907493+10:00","panel_name":"Cobblestone Malformations","panel_id":6,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMTC3 as ready","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:42:09.896000+10:00","panel_name":"Cobblestone Malformations","panel_id":6,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmtc3 has been classified as Green List (High Evidence).","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:42:06.993779+10:00","panel_name":"Cobblestone Malformations","panel_id":6,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMTC3 were changed from  to Lissencephaly 8 (MIM#617255)","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:41:40.935607+10:00","panel_name":"Cobblestone Malformations","panel_id":6,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMTC3 were set to ","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:13:19.800223+10:00","panel_name":"Cobblestone Malformations","panel_id":6,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMTC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMTC3","entity_type":"gene"},{"created":"2020-08-24T18:11:53.135431+10:00","panel_name":"Tubulinopathies","panel_id":21,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBGCP4 as ready","entity_name":"TUBGCP4","entity_type":"gene"},{"created":"2020-08-24T18:11:53.125249+10:00","panel_name":"Tubulinopathies","panel_id":21,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubgcp4 has been classified as Red List (Low Evidence).","entity_name":"TUBGCP4","entity_type":"gene"},{"created":"2020-08-24T18:11:28.223279+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.796","user_name":"Anna Le Fevre","item_type":"entity","text":"gene: GABRA6 was added\ngene: GABRA6 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GABRA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRA6 were set to PMID: 21930603; 29215089; 19429026\nPhenotypes for gene: GABRA6 were set to BFIE; CAE\nPenetrance for gene: GABRA6 were set to unknown\nReview for gene: GABRA6 was set to RED\nAdded comment: One report in a cohort of patients with BFIE\r\nPotential susceptibility allele in CAE \nSources: Literature","entity_name":"GABRA6","entity_type":"gene"},{"created":"2020-08-24T18:11:15.097812+10:00","panel_name":"Tubulinopathies","panel_id":21,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBGCP4 were changed from  to Microcephaly and chorioretinopathy, autosomal recessive, 3 (MIM#616335)","entity_name":"TUBGCP4","entity_type":"gene"},{"created":"2020-08-24T18:10:53.134296+10:00","panel_name":"Tubulinopathies","panel_id":21,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBGCP4 were set to ","entity_name":"TUBGCP4","entity_type":"gene"},{"created":"2020-08-24T18:10:32.551333+10:00","panel_name":"Tubulinopathies","panel_id":21,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBGCP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBGCP4","entity_type":"gene"},{"created":"2020-08-24T18:10:07.829740+10:00","panel_name":"Tubulinopathies","panel_id":21,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBGCP4 as Red List (low evidence)","entity_name":"TUBGCP4","entity_type":"gene"},{"created":"2020-08-24T18:10:07.819754+10:00","panel_name":"Tubulinopathies","panel_id":21,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubgcp4 has been classified as Red List (Low Evidence).","entity_name":"TUBGCP4","entity_type":"gene"},{"created":"2020-08-24T18:08:31.474409+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARFGEF2 as ready","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2020-08-24T18:08:31.463874+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arfgef2 has been classified as Green List (High Evidence).","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2020-08-24T18:08:28.312622+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARFGEF2 were changed from  to Periventricular heterotopia with microcephaly (MIM#608097)","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2020-08-24T18:08:07.833213+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARFGEF2 were set to ","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2020-08-24T18:07:42.889678+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARFGEF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2020-08-24T18:07:15.277208+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25160555, 26126837, 23812912; Phenotypes: Periventricular heterotopia with microcephaly (MIM#608097); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2020-08-24T18:06:23.578889+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3917","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARFGEF2 as ready","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2020-08-24T18:06:23.570624+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3917","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arfgef2 has been classified as Green List (High Evidence).","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2020-08-24T18:06:17.180113+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3917","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARFGEF2 were changed from  to Periventricular heterotopia with microcephaly (MIM#608097)","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2020-08-24T18:06:00.927167+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3916","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARFGEF2 were set to ","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2020-08-24T18:05:45.379658+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3915","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARFGEF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2020-08-24T18:05:26.406751+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3914","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25160555, 26126837, 23812912; Phenotypes: Periventricular heterotopia with microcephaly (MIM#608097); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2020-08-24T18:03:49.115506+10:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARFGEF2 as ready","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2020-08-24T18:03:49.106891+10:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arfgef2 has been classified as Green List (High Evidence).","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2020-08-24T18:03:46.723404+10:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARFGEF2 were changed from  to Periventricular heterotopia with microcephaly (MIM#608097)","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2020-08-24T18:03:22.976677+10:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARFGEF2 were set to ","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2020-08-24T18:02:56.701717+10:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARFGEF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2020-08-24T17:49:28.380099+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AKT3 as ready","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-24T17:49:28.369726+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akt3 has been classified as Green List (High Evidence).","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-24T17:49:25.823113+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AKT3 were changed from  to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-24T17:48:58.583148+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AKT3 were set to ","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-24T17:48:33.186008+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-24T17:31:55.579957+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBX1 as ready","entity_name":"TBX1","entity_type":"gene"},{"created":"2020-08-24T17:31:55.568588+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx1 has been classified as Green List (High Evidence).","entity_name":"TBX1","entity_type":"gene"},{"created":"2020-08-24T17:31:50.619471+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBX1 were changed from  to DiGeorge syndrome (MIM#188400)","entity_name":"TBX1","entity_type":"gene"},{"created":"2020-08-24T17:31:32.581882+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: TBX1 was changed from None to None","entity_name":"TBX1","entity_type":"gene"},{"created":"2020-08-24T17:31:16.247140+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBX1 were set to ","entity_name":"TBX1","entity_type":"gene"},{"created":"2020-08-24T17:30:49.410816+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: TBX1 was changed from  to None","entity_name":"TBX1","entity_type":"gene"},{"created":"2020-08-24T17:30:27.916197+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TBX1","entity_type":"gene"},{"created":"2020-08-24T17:29:24.307853+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMO as ready","entity_name":"SMO","entity_type":"gene"},{"created":"2020-08-24T17:29:24.293325+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smo has been classified as Amber List (Moderate Evidence).","entity_name":"SMO","entity_type":"gene"},{"created":"2020-08-24T17:28:39.826911+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMO as Amber List (moderate evidence)","entity_name":"SMO","entity_type":"gene"},{"created":"2020-08-24T17:28:39.816229+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smo has been classified as Amber List (Moderate Evidence).","entity_name":"SMO","entity_type":"gene"},{"created":"2020-08-24T17:28:11.533306+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Tag somatic tag was added to gene: SMO.","entity_name":"SMO","entity_type":"gene"},{"created":"2020-08-24T17:26:43.822289+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTG1 as ready","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-08-24T17:26:43.813435+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actg1 has been classified as Green List (High Evidence).","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-08-24T17:26:40.608144+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTG1 were changed from  to Baraitser-Winter syndrome 2 (MIM#614583)","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-08-24T17:26:15.353381+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACTG1 were set to ","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-08-24T17:25:54.175528+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-08-24T17:24:30.235759+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMX2 as ready","entity_name":"TMX2","entity_type":"gene"},{"created":"2020-08-24T17:24:30.222906+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmx2 has been classified as Amber List (Moderate Evidence).","entity_name":"TMX2","entity_type":"gene"},{"created":"2020-08-24T17:24:26.128339+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMX2 as Amber List (moderate evidence)","entity_name":"TMX2","entity_type":"gene"},{"created":"2020-08-24T17:24:26.118918+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmx2 has been classified as Amber List (Moderate Evidence).","entity_name":"TMX2","entity_type":"gene"},{"created":"2020-08-24T17:24:22.714507+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.52","user_name":"Ain Roesley","item_type":"entity","text":"gene: ASPM was added\ngene: ASPM was added to Lissencephaly and Band Heterotopia. Sources: Literature\nMode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASPM were set to 18452193; 19332161; 19770472; 27250695\nPhenotypes for gene: ASPM were set to Microcephaly 5, primary, autosomal recessive\t(MIM#608716)\nPenetrance for gene: ASPM were set to unknown\nReview for gene: ASPM was set to GREEN\nAdded comment: PMID: 18452193;\r\nConsanguineous family with 2 affecteds with simplified pattern of gyration\r\n- homozygous for a PTV\r\n\r\nPMID: 19332161;\r\n- consanguineous Algerian family in which 3/5 affecteds presented with simplified cortical gyration\r\n- cHet for 2 PTVs\r\n\r\nPMID: 19770472;\r\n- 11 families with 16 affecteds\r\n- 9/12 affecteds have simplified frontal and/or occipital gyral pattern\r\n- All PTVs reported\r\n\r\nPMID: 27250695;\r\n- 15 families with 21 affecteds\r\n- 4 had coarse gyri and 8 had simplified gyral pattern\r\n- all PTVs \nSources: Literature","entity_name":"ASPM","entity_type":"gene"}]}