{"count":220842,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1967","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1965","results":[{"created":"2020-01-24T14:53:07.313185+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.42","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atp13a3 has been classified as Red List (Low Evidence).","entity_name":"ATP13A3","entity_type":"gene"},{"created":"2020-01-24T14:52:18.864850+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.41","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AQP1 as Red List (low evidence)","entity_name":"AQP1","entity_type":"gene"},{"created":"2020-01-24T14:52:18.861649+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.41","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel","entity_name":"AQP1","entity_type":"gene"},{"created":"2020-01-24T14:52:18.829539+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.41","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: aqp1 has been classified as Red List (Low Evidence).","entity_name":"AQP1","entity_type":"gene"},{"created":"2020-01-24T12:51:04.063174+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.329","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KMT2E as ready","entity_name":"KMT2E","entity_type":"gene"},{"created":"2020-01-24T12:51:04.055356+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.329","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kmt2e has been classified as Green List (High Evidence).","entity_name":"KMT2E","entity_type":"gene"},{"created":"2020-01-24T12:50:56.654581+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.329","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KMT2E as Green List (high evidence)","entity_name":"KMT2E","entity_type":"gene"},{"created":"2020-01-24T12:50:56.647146+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.329","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kmt2e has been classified as Green List (High Evidence).","entity_name":"KMT2E","entity_type":"gene"},{"created":"2020-01-24T12:49:25.944936+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.328","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KMT2E was added\ngene: KMT2E was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2E were set to 31079897\nPhenotypes for gene: KMT2E were set to Intellectual disability; Autism; Seizures\nReview for gene: KMT2E was set to GREEN\ngene: KMT2E was marked as current diagnostic\nAdded comment: Thirty individuals reported with this neurodevelopmental syndrome, substantial proportion had seizures. \nSources: Expert list","entity_name":"KMT2E","entity_type":"gene"},{"created":"2020-01-24T12:46:33.531582+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF1BP were changed from Goldberg-Shprintzen megacolon syndrome, MIM# 609460 to Goldberg-Shprintzen megacolon syndrome, MIM# 609460","entity_name":"KIF1BP","entity_type":"gene"},{"created":"2020-01-24T12:46:11.940370+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.326","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF1BP as ready","entity_name":"KIF1BP","entity_type":"gene"},{"created":"2020-01-24T12:46:11.149792+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.326","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif1bp has been classified as Amber List (Moderate Evidence).","entity_name":"KIF1BP","entity_type":"gene"},{"created":"2020-01-24T12:46:03.541922+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.326","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIF1BP were set to 28277559","entity_name":"KIF1BP","entity_type":"gene"},{"created":"2020-01-24T12:45:32.799877+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.326","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF1BP were changed from  to Goldberg-Shprintzen megacolon syndrome, MIM# 609460","entity_name":"KIF1BP","entity_type":"gene"},{"created":"2020-01-24T12:45:02.700436+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.325","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIF1BP were set to ","entity_name":"KIF1BP","entity_type":"gene"},{"created":"2020-01-24T12:44:32.383611+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.325","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KIF1BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIF1BP","entity_type":"gene"},{"created":"2020-01-24T12:43:56.501574+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.324","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF1BP as Amber List (moderate evidence)","entity_name":"KIF1BP","entity_type":"gene"},{"created":"2020-01-24T12:43:56.492191+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.324","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif1bp has been classified as Amber List (Moderate Evidence).","entity_name":"KIF1BP","entity_type":"gene"},{"created":"2020-01-24T12:43:15.294346+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.323","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KIF1BP: Rating: AMBER; Mode of pathogenicity: None; Publications: 28277559; Phenotypes: Goldberg-Shprintzen megacolon syndrome, MIM# 609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIF1BP","entity_type":"gene"},{"created":"2020-01-24T12:37:26.703969+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.947","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KATNB1 as ready","entity_name":"KATNB1","entity_type":"gene"},{"created":"2020-01-24T12:37:26.696577+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.947","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: katnb1 has been classified as Green List (High Evidence).","entity_name":"KATNB1","entity_type":"gene"},{"created":"2020-01-24T12:36:51.496421+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.947","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KATNB1 were changed from  to Lissencephaly 6, with microcephaly, MIM#\t616212","entity_name":"KATNB1","entity_type":"gene"},{"created":"2020-01-24T12:36:36.432171+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.946","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KATNB1 were set to ","entity_name":"KATNB1","entity_type":"gene"},{"created":"2020-01-24T12:36:20.882182+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.945","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KATNB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KATNB1","entity_type":"gene"},{"created":"2020-01-24T12:28:00.287270+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.944","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NLGN4X as ready","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2020-01-24T12:28:00.280148+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.944","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlgn4x has been classified as Red List (Low Evidence).","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2020-01-24T12:27:32.117621+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.944","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NLGN4X were changed from  to Mental retardation, X-linked, MIM# 300495","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2020-01-24T12:27:15.756861+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.943","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NLGN4X were set to ","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2020-01-24T12:14:30.726799+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.942","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NLGN4X was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2020-01-24T12:14:10.217635+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.941","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NLGN4X as Red List (low evidence)","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2020-01-24T12:14:10.210486+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.941","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlgn4x has been classified as Red List (Low Evidence).","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2020-01-24T12:13:51.153245+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.940","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Mental retardation, X-linked, MIM# 300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2020-01-24T12:12:21.569110+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HNRNPK as ready","entity_name":"HNRNPK","entity_type":"gene"},{"created":"2020-01-24T12:12:21.561375+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnrnpk has been classified as Green List (High Evidence).","entity_name":"HNRNPK","entity_type":"gene"},{"created":"2020-01-24T12:12:08.080461+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1671","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NLGN4X as ready","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2020-01-24T12:12:08.069965+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1671","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlgn4x has been classified as Red List (Low Evidence).","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2020-01-24T12:11:03.839327+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1671","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NLGN4X were changed from  to Mental retardation, X-linked, MIM# 300495","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2020-01-24T12:08:54.964017+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1670","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NLGN4X were set to ","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2020-01-24T12:08:35.354675+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HNRNPK were changed from  to Au-Kline syndrome, MIM#\t616580","entity_name":"HNRNPK","entity_type":"gene"},{"created":"2020-01-24T12:07:24.836319+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1669","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NLGN4X was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2020-01-24T12:06:47.838656+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1668","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NLGN4X as Red List (low evidence)","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2020-01-24T12:06:47.816232+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1668","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlgn4x has been classified as Red List (Low Evidence).","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2020-01-24T12:06:04.100384+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1667","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Mental retardation, X-linked, MIM# 300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2020-01-24T11:39:40.813644+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.107","user_name":"Sue White","item_type":"entity","text":"Classified gene: HNRNPK as Green List (high evidence)","entity_name":"HNRNPK","entity_type":"gene"},{"created":"2020-01-24T11:39:40.805913+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.107","user_name":"Sue White","item_type":"entity","text":"Gene: hnrnpk has been classified as Green List (High Evidence).","entity_name":"HNRNPK","entity_type":"gene"},{"created":"2020-01-24T11:31:22.734412+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.106","user_name":"Sue White","item_type":"entity","text":"edited their review of gene: HNRNPK: Set current diagnostic: yes","entity_name":"HNRNPK","entity_type":"gene"},{"created":"2020-01-24T11:30:18.872845+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.106","user_name":"Sue White","item_type":"entity","text":"gene: HNRNPK was added\ngene: HNRNPK was added to Hydrops fetalis. Sources: Other\nMode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPenetrance for gene: HNRNPK were set to Complete\nReview for gene: HNRNPK was set to GREEN\nAdded comment: case presentation of patient and literature review shows patients can present with hydrops \nSources: Other","entity_name":"HNRNPK","entity_type":"gene"},{"created":"2020-01-24T11:04:54.167425+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1667","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KATNB1 as ready","entity_name":"KATNB1","entity_type":"gene"},{"created":"2020-01-24T11:04:54.152502+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1667","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: katnb1 has been classified as Green List (High Evidence).","entity_name":"KATNB1","entity_type":"gene"},{"created":"2020-01-24T11:04:22.918810+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1667","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KATNB1 as Green List (high evidence)","entity_name":"KATNB1","entity_type":"gene"},{"created":"2020-01-24T11:04:22.911565+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1667","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: katnb1 has been classified as Green List (High Evidence).","entity_name":"KATNB1","entity_type":"gene"},{"created":"2020-01-24T11:02:42.585024+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1666","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KATNB1 was added\ngene: KATNB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KATNB1 were set to 25521378; 25521379; 26640080\nPhenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, MIM#\t616212\nReview for gene: KATNB1 was set to GREEN\nAdded comment: At least 9 families reported with bi-allelic variants in this gene. \nSources: Expert list","entity_name":"KATNB1","entity_type":"gene"},{"created":"2020-01-24T10:56:37.007147+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KATNB1 as Green List (high evidence)","entity_name":"KATNB1","entity_type":"gene"},{"created":"2020-01-24T10:56:36.999252+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: katnb1 has been classified as Green List (High Evidence).","entity_name":"KATNB1","entity_type":"gene"},{"created":"2020-01-24T10:54:56.160583+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KATNB1 was added\ngene: KATNB1 was added to Lissencephaly and Band Heterotopia. Sources: Expert list\nMode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KATNB1 were set to 25521378; 25521379; 26640080\nPhenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, MIM#\t616212\nReview for gene: KATNB1 was set to GREEN\nAdded comment: At least 9 families reported with bi-allelic variants in this gene. \nSources: Expert list","entity_name":"KATNB1","entity_type":"gene"},{"created":"2020-01-24T10:50:46.212165+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.323","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ISPD as ready","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-01-24T10:50:46.204405+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.323","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ispd has been classified as Amber List (Moderate Evidence).","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-01-24T10:50:40.186417+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.323","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-01-24T10:50:07.620660+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ISPD were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-01-24T10:49:34.851299+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.321","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-01-24T10:49:00.977950+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ISPD as Amber List (moderate evidence)","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-01-24T10:49:00.969606+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ispd has been classified as Amber List (Moderate Evidence).","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-01-24T10:48:18.612915+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.319","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-01-24T10:41:46.144644+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.319","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPRT1 as ready","entity_name":"HPRT1","entity_type":"gene"},{"created":"2020-01-24T10:41:46.135660+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.319","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hprt1 has been classified as Amber List (Moderate Evidence).","entity_name":"HPRT1","entity_type":"gene"},{"created":"2020-01-24T10:41:38.914899+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.319","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome to Lesch-Nyhan syndrome","entity_name":"HPRT1","entity_type":"gene"},{"created":"2020-01-24T10:41:04.461759+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.318","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPRT1 were changed from  to Lesch-Nyhan syndrome","entity_name":"HPRT1","entity_type":"gene"},{"created":"2020-01-24T10:40:24.871840+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPRT1 were set to ","entity_name":"HPRT1","entity_type":"gene"},{"created":"2020-01-24T10:39:48.920851+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.316","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HPRT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"HPRT1","entity_type":"gene"},{"created":"2020-01-24T10:39:13.919814+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.315","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HPRT1 as Amber List (moderate evidence)","entity_name":"HPRT1","entity_type":"gene"},{"created":"2020-01-24T10:39:13.912857+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.315","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hprt1 has been classified as Amber List (Moderate Evidence).","entity_name":"HPRT1","entity_type":"gene"},{"created":"2020-01-24T10:38:40.420463+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.314","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27858372; Phenotypes: Lesch-Nyhan syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"HPRT1","entity_type":"gene"},{"created":"2020-01-24T10:37:10.631215+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.314","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HOXA1 were changed from Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536 to Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536","entity_name":"HOXA1","entity_type":"gene"},{"created":"2020-01-24T10:37:07.576093+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.313","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HOXA1 as ready","entity_name":"HOXA1","entity_type":"gene"},{"created":"2020-01-24T10:37:07.567332+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.313","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hoxa1 has been classified as Amber List (Moderate Evidence).","entity_name":"HOXA1","entity_type":"gene"},{"created":"2020-01-24T10:36:39.985305+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.313","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HOXA1 were changed from  to Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536","entity_name":"HOXA1","entity_type":"gene"},{"created":"2020-01-24T10:36:09.412606+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.313","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HOXA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HOXA1","entity_type":"gene"},{"created":"2020-01-24T10:35:33.909887+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.312","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HOXA1 as Amber List (moderate evidence)","entity_name":"HOXA1","entity_type":"gene"},{"created":"2020-01-24T10:35:33.902407+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.312","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hoxa1 has been classified as Amber List (Moderate Evidence).","entity_name":"HOXA1","entity_type":"gene"},{"created":"2020-01-24T10:34:45.975166+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HOXA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HOXA1","entity_type":"gene"},{"created":"2020-01-23T22:18:15.724082+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.940","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HNRNPR as ready","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2020-01-23T22:18:15.716944+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.940","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnrnpr has been classified as Green List (High Evidence).","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2020-01-23T22:17:53.002721+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.940","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HNRNPR as Green List (high evidence)","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2020-01-23T22:17:52.995884+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.940","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnrnpr has been classified as Green List (High Evidence).","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2020-01-23T22:17:33.905456+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.939","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HNRNPR was added\ngene: HNRNPR was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPR were set to 26795593; 31079900\nPhenotypes for gene: HNRNPR were set to Intellectual disability; seizures\nReview for gene: HNRNPR was set to GREEN\ngene: HNRNPR was marked as current diagnostic\nAdded comment: Five unrelated individuals reported with de novo variants and a neurodevelopmental disorder. \nSources: Expert list","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2020-01-23T22:16:20.524476+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HNRNPR as ready","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2020-01-23T22:16:20.517402+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnrnpr has been classified as Green List (High Evidence).","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2020-01-23T22:15:25.661204+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HNRNPR as Green List (high evidence)","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2020-01-23T22:15:25.653102+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnrnpr has been classified as Green List (High Evidence).","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2020-01-23T22:14:28.147417+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HNRNPR was added\ngene: HNRNPR was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPR were set to 26795593; 31079900\nPhenotypes for gene: HNRNPR were set to Intellectual disability; seizures\nReview for gene: HNRNPR was set to GREEN\ngene: HNRNPR was marked as current diagnostic\nAdded comment: Five unrelated individuals reported with de novo variants and a neurodevelopmental disorder. \nSources: Expert list","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2020-01-23T22:11:49.879674+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HCN2 were changed from  to Genetic epilepsy with febrile seizures plus; Other seizure disorders","entity_name":"HCN2","entity_type":"gene"},{"created":"2020-01-23T22:08:57.310123+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.308","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HCN2 were set to ","entity_name":"HCN2","entity_type":"gene"},{"created":"2020-01-23T22:08:24.596929+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.308","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HCCS were changed from Linear skin defects with multiple congenital anomalies 1, 309801 to Linear skin defects with multiple congenital anomalies 1, 309801","entity_name":"HCCS","entity_type":"gene"},{"created":"2020-01-23T22:08:09.504509+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.307","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HCCS as ready","entity_name":"HCCS","entity_type":"gene"},{"created":"2020-01-23T22:08:09.496268+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.307","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hccs has been classified as Amber List (Moderate Evidence).","entity_name":"HCCS","entity_type":"gene"},{"created":"2020-01-23T22:07:53.305854+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.307","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HCCS were changed from  to Linear skin defects with multiple congenital anomalies 1, 309801","entity_name":"HCCS","entity_type":"gene"},{"created":"2020-01-23T22:07:22.487477+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.307","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HCN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HCN2","entity_type":"gene"},{"created":"2020-01-23T22:06:52.383007+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.306","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HCCS were set to ","entity_name":"HCCS","entity_type":"gene"},{"created":"2020-01-23T22:06:22.302193+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.306","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTPBP3 were changed from Combined oxidative phosphorylation deficiency 23, MIM#616198 to Combined oxidative phosphorylation deficiency 23, MIM#616198","entity_name":"GTPBP3","entity_type":"gene"},{"created":"2020-01-23T22:06:05.599708+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.306","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GTPBP3 as ready","entity_name":"GTPBP3","entity_type":"gene"}]}