{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1826","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1824","results":[{"created":"2020-04-21T13:01:19.128403+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.671","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27912044, 31741821, 30668673; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-04-21T12:53:59.427346+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.671","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIN2A as ready","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:53:59.418985+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.671","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grin2a has been classified as Green List (High Evidence).","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:50:16.695700+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.671","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIN2A were changed from  to Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:47:34.628276+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.670","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIN2A were set to ","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:46:47.326547+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.669","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: GRIN2A was changed from  to Other","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:46:10.344770+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2543","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIN2A as ready","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:46:10.332120+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2543","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grin2a has been classified as Green List (High Evidence).","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:46:02.764469+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2543","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIN2A were changed from  to Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:45:48.434219+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2542","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIN2A were set to ","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:45:18.573462+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2541","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: GRIN2A was changed from  to Other","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:42:58.797670+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.668","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:42:50.699149+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2540","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:42:38.414146+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.668","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:42:07.335713+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.667","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30544257; Phenotypes: Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:42:04.605981+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2539","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30544257; Phenotypes: Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:40:31.762659+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2570","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIN2A as ready","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:40:31.753594+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2570","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grin2a has been classified as Green List (High Evidence).","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:40:25.765301+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2570","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIN2A were changed from  to Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:36:45.583817+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2569","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIN2A were set to ","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:36:17.469275+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2568","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: GRIN2A was changed from  to Other","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:35:50.272718+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2567","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:35:16.105680+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2566","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30544257; Phenotypes: Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2020-04-21T12:27:54.132790+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAXD as ready","entity_name":"NAXD","entity_type":"gene"},{"created":"2020-04-21T12:27:54.123717+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naxd has been classified as Green List (High Evidence).","entity_name":"NAXD","entity_type":"gene"},{"created":"2020-04-21T12:27:51.101904+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAXD were changed from  to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321","entity_name":"NAXD","entity_type":"gene"},{"created":"2020-04-21T12:27:27.793601+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NAXD were set to ","entity_name":"NAXD","entity_type":"gene"},{"created":"2020-04-21T12:27:03.430027+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NAXD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAXD","entity_type":"gene"},{"created":"2020-04-21T12:26:33.776322+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: None; Publications: 30576410; Phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAXD","entity_type":"gene"},{"created":"2020-04-21T12:00:35.973085+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSEN34 as ready","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T12:00:35.956791+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen34 has been classified as Red List (Low Evidence).","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T12:00:15.263423+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSEN34 were changed from  to Pontocerebellar hypoplasia type 2C, MIM# 612390","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T12:00:08.429039+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2566","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSEN34 as ready","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T12:00:08.415971+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2566","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen34 has been classified as Red List (Low Evidence).","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T12:00:04.322704+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2566","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSEN34 were changed from  to Pontocerebellar hypoplasia type 2C, MIM# 612390","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:59:48.745634+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSEN34 were set to ","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:59:37.281199+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2565","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSEN34 were set to ","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:59:13.400345+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:59:09.274489+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2564","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:58:45.692505+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TSEN34 as Red List (low evidence)","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:58:45.678974+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen34 has been classified as Red List (Low Evidence).","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:58:38.603158+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2563","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TSEN34 as Red List (low evidence)","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:58:38.593651+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2563","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen34 has been classified as Red List (Low Evidence).","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:58:03.911100+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2562","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:57:59.413805+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:56:24.466793+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSEN34 as ready","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:56:24.454623+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen34 has been classified as Red List (Low Evidence).","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:56:21.582071+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSEN34 were changed from  to Pontocerebellar hypoplasia type 2C, MIM# 612390","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:55:57.087259+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSEN34 were set to ","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:55:30.559934+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:55:05.728843+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TSEN34 as Red List (low evidence)","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:55:05.719960+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen34 has been classified as Red List (Low Evidence).","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:54:34.559542+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:53:46.679655+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSEN34 as ready","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:53:46.666579+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen34 has been classified as Red List (Low Evidence).","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:53:43.509844+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSEN34 were changed from  to Pontocerebellar hypoplasia type 2C, MIM# 612390","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:53:19.998534+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSEN34 were set to ","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:52:55.275288+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:52:33.228047+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TSEN34 as Red List (low evidence)","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:52:33.215971+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen34 has been classified as Red List (Low Evidence).","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:52:02.624324+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:50:48.547982+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSEN34 as ready","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:50:48.535539+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen34 has been classified as Red List (Low Evidence).","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:50:44.126692+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSEN34 were changed from  to Pontocerebellar hypoplasia type 2C, MIM# 612390","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:50:21.535345+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSEN34 were set to ","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:49:57.905263+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:49:35.855155+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TSEN34 as Red List (low evidence)","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:49:35.846540+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen34 has been classified as Red List (Low Evidence).","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:49:06.988772+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:47:31.515713+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2539","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSEN34 as ready","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:47:31.511400+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2539","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Reviewed ClinVar: all variants submitted are VOUS or LB, except for one LP, but no further details provided.","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:47:31.488513+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2539","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen34 has been classified as Red List (Low Evidence).","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:46:32.558422+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2539","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSEN34 were changed from  to Pontocerebellar hypoplasia type 2C, MIM# 612390","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:46:18.942726+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2538","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:45:36.315720+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2537","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSEN34 were set to ","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:45:22.066708+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2536","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TSEN34 as Red List (low evidence)","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:45:22.058059+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2536","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen34 has been classified as Red List (Low Evidence).","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:44:20.775685+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.29","user_name":"Lauren Akesson","item_type":"entity","text":"changed review comment from: Two families with variants in this gene have been described with insufficient information to be green:\r\n\r\nPMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.\r\n\r\nPMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1.; to: Two families with variants in this gene have been described with insufficient evidence to be green:\r\n\r\nPMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.\r\n\r\nPMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1.","entity_name":"B4GAT1","entity_type":"gene"},{"created":"2020-04-21T11:43:39.579537+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2535","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:42:21.889048+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.29","user_name":"Lauren Akesson","item_type":"entity","text":"changed review comment from: Two families with variants in this gene have been described with insufficient information to be green:\r\n\r\nPMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.\r\n\r\nPMID 23877401 - seven affected siblings from a consanguineous family (two arms). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual was tested with a homozygous frameshift variant in B4GAT1.; to: Two families with variants in this gene have been described with insufficient information to be green:\r\n\r\nPMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.\r\n\r\nPMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1.","entity_name":"B4GAT1","entity_type":"gene"},{"created":"2020-04-21T11:40:44.760194+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.29","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: None","entity_name":"B4GAT1","entity_type":"gene"},{"created":"2020-04-21T11:35:47.902503+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2535","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their review","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-04-21T11:34:01.501840+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2535","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSEN54 as ready","entity_name":"TSEN54","entity_type":"gene"},{"created":"2020-04-21T11:34:01.487971+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2535","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen54 has been classified as Green List (High Evidence).","entity_name":"TSEN54","entity_type":"gene"},{"created":"2020-04-21T11:33:52.727290+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2535","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSEN54 were changed from  to Pontocerebellar hypoplasia type 2A 277470; Pontocerebellar hypoplasia type 4 225753; Ataxia","entity_name":"TSEN54","entity_type":"gene"},{"created":"2020-04-21T11:33:28.219377+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2534","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSEN54 were set to ","entity_name":"TSEN54","entity_type":"gene"},{"created":"2020-04-21T11:33:13.883179+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2533","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSEN54 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TSEN54","entity_type":"gene"},{"created":"2020-04-21T11:32:50.823928+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2532","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2A 277470, Pontocerebellar hypoplasia type 4 225753, Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN54","entity_type":"gene"},{"created":"2020-04-21T11:31:28.575388+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2532","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their review","entity_name":"TSEN54","entity_type":"gene"},{"created":"2020-04-21T11:31:12.888136+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2532","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"TSEN54","entity_type":"gene"},{"created":"2020-04-21T11:29:35.971013+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2532","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:FUS from the panel","entity_name":null,"entity_type":null},{"created":"2020-04-21T11:27:15.369502+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2531","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:C9orf72 from the panel","entity_name":null,"entity_type":null},{"created":"2020-04-21T11:22:27.452171+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2530","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMPRSS9 as ready","entity_name":"TMPRSS9","entity_type":"gene"},{"created":"2020-04-21T11:22:27.443614+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2530","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmprss9 has been classified as Red List (Low Evidence).","entity_name":"TMPRSS9","entity_type":"gene"},{"created":"2020-04-21T11:20:41.673430+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2530","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC6A6 as ready","entity_name":"SLC6A6","entity_type":"gene"},{"created":"2020-04-21T11:20:41.663169+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2530","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a6 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC6A6","entity_type":"gene"},{"created":"2020-04-21T11:19:10.988852+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.667","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABRB2 as ready","entity_name":"GABRB2","entity_type":"gene"},{"created":"2020-04-21T11:19:10.979202+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.667","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabrb2 has been classified as Green List (High Evidence).","entity_name":"GABRB2","entity_type":"gene"},{"created":"2020-04-21T11:19:08.027623+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.667","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GABRB2 were changed from  to Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829","entity_name":"GABRB2","entity_type":"gene"},{"created":"2020-04-21T11:18:43.013379+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.666","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GABRB2 were set to ","entity_name":"GABRB2","entity_type":"gene"}]}