{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2058","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2056","results":[{"created":"2019-12-09T06:43:33.121406+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.948","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDP1 as ready","entity_name":"PDP1","entity_type":"gene"},{"created":"2019-12-09T06:43:33.114034+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.948","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdp1 has been classified as Green List (High Evidence).","entity_name":"PDP1","entity_type":"gene"},{"created":"2019-12-09T06:43:28.006257+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.948","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDP1 were changed from  to Pyruvate dehydrogenase phosphatase deficiency, MIM#608782","entity_name":"PDP1","entity_type":"gene"},{"created":"2019-12-09T06:43:16.463502+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.947","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDP1 were set to ","entity_name":"PDP1","entity_type":"gene"},{"created":"2019-12-09T06:43:04.497073+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.946","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDP1","entity_type":"gene"},{"created":"2019-12-09T06:42:50.097990+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.945","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19184109, 15855260, 31392110; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency, MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDP1","entity_type":"gene"},{"created":"2019-12-09T06:38:26.349331+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.945","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDHB as ready","entity_name":"PDHB","entity_type":"gene"},{"created":"2019-12-09T06:38:26.341832+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.945","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdhb has been classified as Green List (High Evidence).","entity_name":"PDHB","entity_type":"gene"},{"created":"2019-12-09T06:38:22.064505+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.945","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDHB were changed from  to Pyruvate dehydrogenase E1-beta deficiency, MIM#614111","entity_name":"PDHB","entity_type":"gene"},{"created":"2019-12-09T06:38:10.282379+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.944","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDHB were set to ","entity_name":"PDHB","entity_type":"gene"},{"created":"2019-12-09T06:37:54.143211+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.943","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15138885, 26014431; Phenotypes: Pyruvate dehydrogenase E1-beta deficiency, MIM#614111; Mode of inheritance: None","entity_name":"PDHB","entity_type":"gene"},{"created":"2019-12-09T06:32:59.727541+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.943","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDGFB as ready","entity_name":"PDGFB","entity_type":"gene"},{"created":"2019-12-09T06:32:59.720102+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.943","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdgfb has been classified as Red List (Low Evidence).","entity_name":"PDGFB","entity_type":"gene"},{"created":"2019-12-09T06:32:55.836109+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.943","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDGFB were changed from  to Basal ganglia calcification, idiopathic, 5, MIM#615483","entity_name":"PDGFB","entity_type":"gene"},{"created":"2019-12-09T06:32:44.137318+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.942","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDGFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDGFB","entity_type":"gene"},{"created":"2019-12-09T06:32:32.847323+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.941","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDGFB as Red List (low evidence)","entity_name":"PDGFB","entity_type":"gene"},{"created":"2019-12-09T06:32:32.836212+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.941","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdgfb has been classified as Red List (Low Evidence).","entity_name":"PDGFB","entity_type":"gene"},{"created":"2019-12-09T06:32:19.962617+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.940","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDGFB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 5, MIM#615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDGFB","entity_type":"gene"},{"created":"2019-12-08T20:10:12.989206+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.940","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDE6D as ready","entity_name":"PDE6D","entity_type":"gene"},{"created":"2019-12-08T20:10:12.981565+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.940","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde6d has been classified as Green List (High Evidence).","entity_name":"PDE6D","entity_type":"gene"},{"created":"2019-12-08T20:10:07.922884+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.940","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDE6D were changed from  to Joubert syndrome 22, MIM#615665","entity_name":"PDE6D","entity_type":"gene"},{"created":"2019-12-08T20:09:54.239967+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.939","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDE6D were set to ","entity_name":"PDE6D","entity_type":"gene"},{"created":"2019-12-08T20:09:42.107163+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.938","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDE6D","entity_type":"gene"},{"created":"2019-12-08T20:09:27.342054+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.937","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDE6D: Rating: GREEN; Mode of pathogenicity: None; Publications: 24166846, 30423442; Phenotypes: Joubert syndrome 22, MIM#615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDE6D","entity_type":"gene"},{"created":"2019-12-08T20:04:49.933477+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.937","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDE11A as ready","entity_name":"PDE11A","entity_type":"gene"},{"created":"2019-12-08T20:04:49.926181+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.937","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde11a has been classified as Red List (Low Evidence).","entity_name":"PDE11A","entity_type":"gene"},{"created":"2019-12-08T20:04:45.656785+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.937","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDE11A were changed from  to Pigmented nodular adrenocortical disease, primary, 2, MIM#610475","entity_name":"PDE11A","entity_type":"gene"},{"created":"2019-12-08T20:04:35.937718+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.936","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDE11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDE11A","entity_type":"gene"},{"created":"2019-12-08T20:04:29.380411+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.935","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDE11A as Red List (low evidence)","entity_name":"PDE11A","entity_type":"gene"},{"created":"2019-12-08T20:04:29.372468+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.935","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde11a has been classified as Red List (Low Evidence).","entity_name":"PDE11A","entity_type":"gene"},{"created":"2019-12-08T20:04:15.904552+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.934","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDE11A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pigmented nodular adrenocortical disease, primary, 2, MIM#610475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDE11A","entity_type":"gene"},{"created":"2019-12-08T20:00:53.082848+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBX4 as ready","entity_name":"TBX4","entity_type":"gene"},{"created":"2019-12-08T20:00:53.073636+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx4 has been classified as Green List (High Evidence).","entity_name":"TBX4","entity_type":"gene"},{"created":"2019-12-08T20:00:44.906075+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBX4 were changed from  to Posterior amelia with pelvis and pulmonary hypoplasia; small patella syndrome","entity_name":"TBX4","entity_type":"gene"},{"created":"2019-12-08T20:00:26.277010+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBX4 were set to ","entity_name":"TBX4","entity_type":"gene"},{"created":"2019-12-08T20:00:05.587038+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TBX4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TBX4","entity_type":"gene"},{"created":"2019-12-08T19:59:43.873946+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TBX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31761294; Phenotypes: Posterior amelia with pelvis and pulmonary hypoplasia, small patella syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TBX4","entity_type":"gene"},{"created":"2019-12-08T19:54:53.775541+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OXR1 as ready","entity_name":"OXR1","entity_type":"gene"},{"created":"2019-12-08T19:54:53.768026+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oxr1 has been classified as Green List (High Evidence).","entity_name":"OXR1","entity_type":"gene"},{"created":"2019-12-08T19:54:43.961209+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OXR1 as Green List (high evidence)","entity_name":"OXR1","entity_type":"gene"},{"created":"2019-12-08T19:54:43.953613+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oxr1 has been classified as Green List (High Evidence).","entity_name":"OXR1","entity_type":"gene"},{"created":"2019-12-08T19:54:23.994923+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OXR1 was added\ngene: OXR1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OXR1 were set to 31785787\nPhenotypes for gene: OXR1 were set to Intellectual disability; seizures; cerebellar atrophy\nReview for gene: OXR1 was set to GREEN\nAdded comment: Five individuals from three families. \nSources: Literature","entity_name":"OXR1","entity_type":"gene"},{"created":"2019-12-08T19:51:51.845231+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.934","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OXR1 as ready","entity_name":"OXR1","entity_type":"gene"},{"created":"2019-12-08T19:51:51.834430+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.934","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oxr1 has been classified as Green List (High Evidence).","entity_name":"OXR1","entity_type":"gene"},{"created":"2019-12-08T19:51:41.392503+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.934","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OXR1 as Green List (high evidence)","entity_name":"OXR1","entity_type":"gene"},{"created":"2019-12-08T19:51:41.384707+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.934","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oxr1 has been classified as Green List (High Evidence).","entity_name":"OXR1","entity_type":"gene"},{"created":"2019-12-08T19:51:26.046200+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.933","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OXR1 was added\ngene: OXR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OXR1 were set to 31785787\nPhenotypes for gene: OXR1 were set to Intellectual disability; seizures; cerebellar atrophy\nReview for gene: OXR1 was set to GREEN\nAdded comment: Five individuals from three families. \nSources: Literature","entity_name":"OXR1","entity_type":"gene"},{"created":"2019-12-08T19:47:27.456594+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMX2 as ready","entity_name":"TMX2","entity_type":"gene"},{"created":"2019-12-08T19:47:27.449069+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmx2 has been classified as Green List (High Evidence).","entity_name":"TMX2","entity_type":"gene"},{"created":"2019-12-08T19:47:12.378737+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMX2 were changed from  to Microcephaly; ID; brain malformations","entity_name":"TMX2","entity_type":"gene"},{"created":"2019-12-08T19:46:58.588240+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMX2 were set to ","entity_name":"TMX2","entity_type":"gene"},{"created":"2019-12-08T19:46:48.489421+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMX2","entity_type":"gene"},{"created":"2019-12-08T18:59:56.187520+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31735293, 31586943; Phenotypes: Microcephaly, ID, brain malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMX2","entity_type":"gene"},{"created":"2019-12-08T18:59:15.191885+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMX2 as ready","entity_name":"TMX2","entity_type":"gene"},{"created":"2019-12-08T18:59:15.184101+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmx2 has been classified as Green List (High Evidence).","entity_name":"TMX2","entity_type":"gene"},{"created":"2019-12-08T18:59:12.484647+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMX2 were changed from  to Microcephaly; ID; brain malformations","entity_name":"TMX2","entity_type":"gene"},{"created":"2019-12-08T18:58:52.785211+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMX2 were set to ","entity_name":"TMX2","entity_type":"gene"},{"created":"2019-12-08T18:58:31.440164+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMX2","entity_type":"gene"},{"created":"2019-12-08T18:58:02.455774+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31735293, 31586943; Phenotypes: Microcephaly, ID, brain malformations; Mode of inheritance: None","entity_name":"TMX2","entity_type":"gene"},{"created":"2019-12-08T18:55:53.565432+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.932","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMX2 as ready","entity_name":"TMX2","entity_type":"gene"},{"created":"2019-12-08T18:55:53.557939+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.932","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmx2 has been classified as Green List (High Evidence).","entity_name":"TMX2","entity_type":"gene"},{"created":"2019-12-08T18:55:48.653641+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.932","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMX2 as Green List (high evidence)","entity_name":"TMX2","entity_type":"gene"},{"created":"2019-12-08T18:55:48.646302+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.932","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmx2 has been classified as Green List (High Evidence).","entity_name":"TMX2","entity_type":"gene"},{"created":"2019-12-08T18:55:35.703175+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.931","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMX2 was added\ngene: TMX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMX2 were set to 31735293; 31586943\nPhenotypes for gene: TMX2 were set to Microcephaly; ID; brain malformations\nReview for gene: TMX2 was set to GREEN\nAdded comment: 14 individuals from 10 unrelated families with bi-allelic variants in this gene (31735293) and another four families with recurrent variant (31586943). \nSources: Literature","entity_name":"TMX2","entity_type":"gene"},{"created":"2019-12-08T18:45:10.225765+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.930","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDE10A as ready","entity_name":"PDE10A","entity_type":"gene"},{"created":"2019-12-08T18:45:10.222490+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.930","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Note that allelic disorder, Striatal degeneration, autosomal dominant, MIM#616922, is caused by heterozygous variants and ID is not part of the phenotype.","entity_name":"PDE10A","entity_type":"gene"},{"created":"2019-12-08T18:45:10.202883+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.930","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde10a has been classified as Green List (High Evidence).","entity_name":"PDE10A","entity_type":"gene"},{"created":"2019-12-08T18:44:34.468977+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.930","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDE10A were changed from  to Dyskinesia, limb and orofacial, infantile-onset, MIM#616921","entity_name":"PDE10A","entity_type":"gene"},{"created":"2019-12-08T18:44:22.473604+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.929","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDE10A were set to ","entity_name":"PDE10A","entity_type":"gene"},{"created":"2019-12-08T18:44:12.943924+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.928","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDE10A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDE10A","entity_type":"gene"},{"created":"2019-12-08T18:43:25.260697+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.927","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27058446; Phenotypes: Dyskinesia, limb and orofacial, infantile-onset, MIM#616921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDE10A","entity_type":"gene"},{"created":"2019-12-08T18:39:57.655232+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.927","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCYT2 as ready","entity_name":"PCYT2","entity_type":"gene"},{"created":"2019-12-08T18:39:57.647410+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.927","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcyt2 has been classified as Green List (High Evidence).","entity_name":"PCYT2","entity_type":"gene"},{"created":"2019-12-08T18:39:52.475719+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.927","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PCYT2 as Green List (high evidence)","entity_name":"PCYT2","entity_type":"gene"},{"created":"2019-12-08T18:39:52.464806+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.927","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcyt2 has been classified as Green List (High Evidence).","entity_name":"PCYT2","entity_type":"gene"},{"created":"2019-12-08T18:39:39.136566+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.926","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCYT2 was added\ngene: PCYT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert Review\nMode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCYT2 were set to 31637422\nPhenotypes for gene: PCYT2 were set to Global developmental delay with regression; spastic para- or tetra paresis; epilepsy; progressive cerebral and cerebellar atrophy\nReview for gene: PCYT2 was set to GREEN\nAdded comment: Five unrelated individuals. Variants are hypomorphic. \nSources: Expert Review","entity_name":"PCYT2","entity_type":"gene"},{"created":"2019-12-08T18:19:18.432575+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.925","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCLO as ready","entity_name":"PCLO","entity_type":"gene"},{"created":"2019-12-08T18:19:18.425658+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.925","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pclo has been classified as Red List (Low Evidence).","entity_name":"PCLO","entity_type":"gene"},{"created":"2019-12-08T18:19:12.774725+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.925","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PCLO as Red List (low evidence)","entity_name":"PCLO","entity_type":"gene"},{"created":"2019-12-08T18:19:12.767793+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.925","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pclo has been classified as Red List (Low Evidence).","entity_name":"PCLO","entity_type":"gene"},{"created":"2019-12-08T18:18:10.763223+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.924","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCLO were changed from  to Pontocerebellar hypoplasia, type 3, MIM#608027","entity_name":"PCLO","entity_type":"gene"},{"created":"2019-12-08T18:17:58.970554+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.923","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PCLO were set to ","entity_name":"PCLO","entity_type":"gene"},{"created":"2019-12-08T18:17:49.592123+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.922","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PCLO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCLO","entity_type":"gene"},{"created":"2019-12-08T18:17:42.295655+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.921","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PCLO as Amber List (moderate evidence)","entity_name":"PCLO","entity_type":"gene"},{"created":"2019-12-08T18:17:42.287076+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.921","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pclo has been classified as Amber List (Moderate Evidence).","entity_name":"PCLO","entity_type":"gene"},{"created":"2019-12-08T18:17:06.503949+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.920","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCDH9 as ready","entity_name":"PCDH9","entity_type":"gene"},{"created":"2019-12-08T18:17:06.496626+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.920","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdh9 has been classified as Red List (Low Evidence).","entity_name":"PCDH9","entity_type":"gene"},{"created":"2019-12-08T18:17:01.329874+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.920","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PCDH9 as Red List (low evidence)","entity_name":"PCDH9","entity_type":"gene"},{"created":"2019-12-08T18:17:01.322004+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.920","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdh9 has been classified as Red List (Low Evidence).","entity_name":"PCDH9","entity_type":"gene"},{"created":"2019-12-08T18:16:49.002959+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.919","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PCDH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"PCDH9","entity_type":"gene"},{"created":"2019-12-08T18:14:40.887019+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.919","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCDH15 as ready","entity_name":"PCDH15","entity_type":"gene"},{"created":"2019-12-08T18:14:40.879738+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.919","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdh15 has been classified as Red List (Low Evidence).","entity_name":"PCDH15","entity_type":"gene"},{"created":"2019-12-08T18:14:36.260393+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.919","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCDH15 were changed from  to Deafness, autosomal recessive 23, MIM#609533","entity_name":"PCDH15","entity_type":"gene"},{"created":"2019-12-08T18:14:24.922358+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.918","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PCDH15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCDH15","entity_type":"gene"},{"created":"2019-12-08T18:14:17.439693+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.917","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PCDH15 as Red List (low evidence)","entity_name":"PCDH15","entity_type":"gene"},{"created":"2019-12-08T18:14:17.430699+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.917","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdh15 has been classified as Red List (Low Evidence).","entity_name":"PCDH15","entity_type":"gene"},{"created":"2019-12-08T18:14:03.623853+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.916","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PCDH15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 23, MIM#609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCDH15","entity_type":"gene"},{"created":"2019-12-08T18:12:25.173891+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.916","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCDH12 as ready","entity_name":"PCDH12","entity_type":"gene"},{"created":"2019-12-08T18:12:25.165767+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.916","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdh12 has been classified as Green List (High Evidence).","entity_name":"PCDH12","entity_type":"gene"},{"created":"2019-12-08T18:12:18.851402+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.916","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCDH12 were changed from  to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM#251280","entity_name":"PCDH12","entity_type":"gene"}]}