{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1601","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1599","results":[{"created":"2020-09-10T09:23:08.067961+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NEDD4L as Green List (high evidence)","entity_name":"NEDD4L","entity_type":"gene"},{"created":"2020-09-10T09:23:08.057467+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nedd4l has been classified as Green List (High Evidence).","entity_name":"NEDD4L","entity_type":"gene"},{"created":"2020-09-10T09:22:39.072919+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NEDD4L as ready","entity_name":"NEDD4L","entity_type":"gene"},{"created":"2020-09-10T09:22:39.063615+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nedd4l has been removed from the panel.","entity_name":"NEDD4L","entity_type":"gene"},{"created":"2020-09-10T09:22:36.905214+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEDD4L were changed from Periventricular nodular heterotopia; polymicrogyria; syndactyly to Periventricular nodular heterotopia 7, MIM#\t617201; polymicrogyria; syndactyly","entity_name":"NEDD4L","entity_type":"gene"},{"created":"2020-09-10T09:21:20.277628+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL4A2 as ready","entity_name":"COL4A2","entity_type":"gene"},{"created":"2020-09-10T09:21:20.268391+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a2 has been classified as Amber List (Moderate Evidence).","entity_name":"COL4A2","entity_type":"gene"},{"created":"2020-09-10T09:21:18.165298+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL4A2 were changed from 614483 to Brain small vessel disease 2, MIM#614483","entity_name":"COL4A2","entity_type":"gene"},{"created":"2020-09-10T09:20:44.351585+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL4A2 as Amber List (moderate evidence)","entity_name":"COL4A2","entity_type":"gene"},{"created":"2020-09-10T09:20:44.341403+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a2 has been classified as Amber List (Moderate Evidence).","entity_name":"COL4A2","entity_type":"gene"},{"created":"2020-09-10T09:06:02.244820+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2982","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC16A2 as ready","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2020-09-10T09:06:02.235593+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2982","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc16a2 has been classified as Green List (High Evidence).","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2020-09-10T09:05:57.271993+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2982","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC16A2 were changed from  to Allan-Herndon-Dudley syndrome, MIM# 300523","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2020-09-10T09:05:06.793257+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2981","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC16A2 were set to ","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2020-09-10T09:04:35.118760+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2980","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC16A2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2020-09-10T09:04:07.257571+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2979","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15980113, 31410843, 20301789; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2020-09-09T20:04:34.193677+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC16A2 as ready","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2020-09-09T20:04:34.181571+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc16a2 has been classified as Green List (High Evidence).","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2020-09-09T20:04:22.142719+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC16A2 were changed from paroxysmal dyskinesia (passive movement trigger); neurodevelopmental disability, hypotonia to Allan-Herndon-Dudley syndrome, MIM# 300523; paroxysmal dyskinesia (passive movement trigger); neurodevelopmental disability, hypotonia","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2020-09-09T20:03:51.914977+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC16A2 were set to PMID 20301789","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2020-09-09T20:03:14.946685+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC16A2 was changed from Other to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2020-09-09T20:02:41.335022+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC16A2 as Green List (high evidence)","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2020-09-09T20:02:41.326937+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc16a2 has been classified as Green List (High Evidence).","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2020-09-09T20:02:16.070521+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15980113, 31410843, 20301789; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2020-09-09T19:57:42.953954+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDGFB as ready","entity_name":"PDGFB","entity_type":"gene"},{"created":"2020-09-09T19:57:42.944964+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdgfb has been classified as Green List (High Evidence).","entity_name":"PDGFB","entity_type":"gene"},{"created":"2020-09-09T19:57:39.493983+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDGFB were changed from Paroxysmal nonkinesigenic dyskinesia; paroxysmal kinesigenic dyskinesia; Brain calcification to Basal ganglia calcification, idiopathic, 5, MIM# 615483; Paroxysmal nonkinesigenic dyskinesia; paroxysmal kinesigenic dyskinesia; Brain calcification","entity_name":"PDGFB","entity_type":"gene"},{"created":"2020-09-09T19:57:18.666180+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDGFB were set to PMID 28556368; PMID 32443735","entity_name":"PDGFB","entity_type":"gene"},{"created":"2020-09-09T19:56:40.145380+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.44","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":"2020-09-09T19:56:11.325812+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDGFB as Green List (high evidence)","entity_name":"PDGFB","entity_type":"gene"},{"created":"2020-09-09T19:56:11.315772+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdgfb has been classified as Green List (High Evidence).","entity_name":"PDGFB","entity_type":"gene"},{"created":"2020-09-09T19:55:46.451483+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913003; Phenotypes: Basal ganglia calcification, idiopathic, 5, MIM# 615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDGFB","entity_type":"gene"},{"created":"2020-09-09T15:46:54.689262+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.142","user_name":"chloe stutterd","item_type":"entity","text":"gene: COL4A2 was added\ngene: COL4A2 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL4A2 were set to 30315939\nPhenotypes for gene: COL4A2 were set to 614483\nReview for gene: COL4A2 was set to AMBER\nAdded comment: Two unrelated individuals reported with PMG. \r\nThird unrelated family identified in MCRI study not yet published \nSources: Literature","entity_name":"COL4A2","entity_type":"gene"},{"created":"2020-09-09T15:40:20.940871+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.142","user_name":"chloe stutterd","item_type":"entity","text":"gene: NEDD4L was added\ngene: NEDD4L was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NEDD4L were set to 27694961; 28515470; 30393983\nPhenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia; polymicrogyria; syndactyly\nReview for gene: NEDD4L was set to GREEN\nAdded comment: Sources: Literature","entity_name":"NEDD4L","entity_type":"gene"},{"created":"2020-09-09T15:13:55.240726+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OPA3 as ready","entity_name":"OPA3","entity_type":"gene"},{"created":"2020-09-09T15:13:55.225887+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: opa3 has been classified as Green List (High Evidence).","entity_name":"OPA3","entity_type":"gene"},{"created":"2020-09-09T15:13:52.413046+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OPA3 were changed from developmental delay, hypotonia; dystonia and chorea; ataxia, optic atrophy; spastic paraplegia to 3-methylglutaconic aciduria, type III, MIM# 258501; developmental delay, hypotonia; dystonia and chorea; ataxia, optic atrophy; spastic paraplegia","entity_name":"OPA3","entity_type":"gene"},{"created":"2020-09-09T15:13:37.063802+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OPA3 were set to PMID: 20301646","entity_name":"OPA3","entity_type":"gene"},{"created":"2020-09-09T15:13:18.954468+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OPA3 as Green List (high evidence)","entity_name":"OPA3","entity_type":"gene"},{"created":"2020-09-09T15:13:18.940977+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: opa3 has been classified as Green List (High Evidence).","entity_name":"OPA3","entity_type":"gene"},{"created":"2020-09-09T15:12:49.619785+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7510656, 2494568, 11668429; Phenotypes: 3-methylglutaconic aciduria, type III, MIM# 258501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OPA3","entity_type":"gene"},{"created":"2020-09-09T15:07:24.270067+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.387","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DMXL2 were changed from Autosomal dominant hearing loss; autosomal recessive EE with deafness to Autosomal dominant hearing loss; Epileptic encephalopathy, early infantile, 81, MIM#618663, includes deafness","entity_name":"DMXL2","entity_type":"gene"},{"created":"2020-09-09T14:55:39.042721+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4288","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOBOX as ready","entity_name":"NOBOX","entity_type":"gene"},{"created":"2020-09-09T14:55:39.027345+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nobox has been classified as Green List (High Evidence).","entity_name":"NOBOX","entity_type":"gene"},{"created":"2020-09-09T14:55:31.958674+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4288","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NOBOX were changed from  to Premature ovarian failure 5,MIM#611548","entity_name":"NOBOX","entity_type":"gene"},{"created":"2020-09-09T14:55:14.546267+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4287","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NOBOX were set to ","entity_name":"NOBOX","entity_type":"gene"},{"created":"2020-09-09T14:54:55.269089+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4286","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NOBOX was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NOBOX","entity_type":"gene"},{"created":"2020-09-09T14:54:18.289349+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4285","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NOBOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 27836978, 21837770, 25514101, 17701902, 27798098, 29067606; Phenotypes: Premature ovarian failure 5,MIM#611548; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NOBOX","entity_type":"gene"},{"created":"2020-09-09T14:53:05.687502+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOBOX as ready","entity_name":"NOBOX","entity_type":"gene"},{"created":"2020-09-09T14:53:05.678620+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nobox has been classified as Green List (High Evidence).","entity_name":"NOBOX","entity_type":"gene"},{"created":"2020-09-09T14:52:55.973698+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NOBOX were set to ","entity_name":"NOBOX","entity_type":"gene"},{"created":"2020-09-09T14:52:47.368916+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NOBOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NOBOX","entity_type":"gene"},{"created":"2020-09-09T14:00:06.390706+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.42","user_name":"Eunice Chan","item_type":"entity","text":"gene: UBR4 was added\ngene: UBR4 was added to Paroxysmal Dyskinesia. Sources: Expert list\nMode of inheritance for gene: UBR4 was set to Unknown\nPublications for gene: UBR4 were set to PMID 23982692 PMID 29062094\nPhenotypes for gene: UBR4 were set to early onset episodic ataxia; nystagmus; myokymia; tremor","entity_name":"UBR4","entity_type":"gene"},{"created":"2020-09-09T13:52:04.690060+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.42","user_name":"Eunice Chan","item_type":"entity","text":"gene: TBC1D24 was added\ngene: TBC1D24 was added to Paroxysmal Dyskinesia. Sources: Expert list\nMode of inheritance for gene: TBC1D24 was set to Unknown\nPublications for gene: TBC1D24 were set to PMID 31257402; PMID 31226716; PMID 25719194\nPhenotypes for gene: TBC1D24 were set to Episodic dystonia (Exercise induced or without clear trigger); epilepsy; myoclonus; hearing loss\nAdded comment: Main phenotype with epilepsy and seizures. \r\nOther phenotypes include paroxysmal exercise induced dyskinesia, episodic dystonia, DOORS, non-syndromic hearing loss, myoclonus \nSources: Expert list","entity_name":"TBC1D24","entity_type":"gene"},{"created":"2020-09-09T13:45:26.199147+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.42","user_name":"Eunice Chan","item_type":"entity","text":"gene: HIBCH was added\ngene: HIBCH was added to Paroxysmal Dyskinesia. Sources: Expert list\nMode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HIBCH were set to PMID 31679561\nPhenotypes for gene: HIBCH were set to Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features; mitochondrial disorder (Leigh syndrome); neurodevelopmental disability; epilepsy.\nAdded comment: OMIM 610690\r\nIf mild phenotype, can present with PED, hyperCKaemia, hyperammoniaemia and pallidal hyperintensities on MRI \nSources: Expert list","entity_name":"HIBCH","entity_type":"gene"},{"created":"2020-09-09T13:30:17.153007+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.42","user_name":"Eunice Chan","item_type":"entity","text":"gene: SLC20A2 was added\ngene: SLC20A2 was added to Paroxysmal Dyskinesia. Sources: Expert list\nMode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SLC20A2 were set to PMID 24411498\nPhenotypes for gene: SLC20A2 were set to Paroxysmal kinesigenic dyskinesia; Basal ganglia calcification\nAdded comment: Case report of 1 family \nSources: Expert list","entity_name":"SLC20A2","entity_type":"gene"},{"created":"2020-09-09T13:22:09.428112+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.42","user_name":"Eunice Chan","item_type":"entity","text":"gene: SLC16A2 was added\ngene: SLC16A2 was added to Paroxysmal Dyskinesia. Sources: Expert list\nMode of inheritance for gene: SLC16A2 was set to Other\nPublications for gene: SLC16A2 were set to PMID 20301789\nPhenotypes for gene: SLC16A2 were set to paroxysmal dyskinesia (passive movement trigger); neurodevelopmental disability, hypotonia\nAdded comment: X-linked inheritance\r\nAllan-Herndon-Dudley Syndrome\r\nparoxysmal dystonic dyskinesia triggered by poassive movements, excitement, crying\r\nHigh fT3 also characteristic \r\nPlease also include on dystonia-Complex panel \nSources: Expert list","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2020-09-09T13:15:40.572058+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.42","user_name":"Eunice Chan","item_type":"entity","text":"reviewed gene: PDGFB: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"PDGFB","entity_type":"gene"},{"created":"2020-09-09T13:14:55.733261+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.42","user_name":"Eunice Chan","item_type":"entity","text":"gene: PDGFB was added\ngene: PDGFB was added to Paroxysmal Dyskinesia. Sources: Expert list\nMode of inheritance for gene: PDGFB was set to Unknown\nPublications for gene: PDGFB were set to PMID 28556368; PMID 32443735\nPhenotypes for gene: PDGFB were set to Paroxysmal nonkinesigenic dyskinesia; paroxysmal kinesigenic dyskinesia; Brain calcification","entity_name":"PDGFB","entity_type":"gene"},{"created":"2020-09-09T12:40:35.909296+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.123","user_name":"Eunice Chan","item_type":"entity","text":"gene: OPA3 was added\ngene: OPA3 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OPA3 were set to PMID: 20301646\nPhenotypes for gene: OPA3 were set to developmental delay, hypotonia; dystonia and chorea; ataxia, optic atrophy; spastic paraplegia\nAdded comment: Costeff syndrome, most patients are Iraqi-Jewish ancestry \nSources: Expert list","entity_name":"OPA3","entity_type":"gene"},{"created":"2020-09-09T11:56:49.461023+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.386","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: DMXL2: Rating: ; Mode of pathogenicity: None; Publications: 30732576, 27657680; Phenotypes: Epileptic encephalopathy, early infantile, 81, MIM#618663, Autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"DMXL2","entity_type":"gene"},{"created":"2020-09-09T09:54:16.815479+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SETX as ready","entity_name":"SETX","entity_type":"gene"},{"created":"2020-09-09T09:54:16.805145+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: setx has been classified as Green List (High Evidence).","entity_name":"SETX","entity_type":"gene"},{"created":"2020-09-09T09:54:11.996030+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SETX as Green List (high evidence)","entity_name":"SETX","entity_type":"gene"},{"created":"2020-09-09T09:54:11.985136+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: setx has been classified as Green List (High Evidence).","entity_name":"SETX","entity_type":"gene"},{"created":"2020-09-09T09:54:03.131691+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SETX was added\ngene: SETX was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SETX were set to 19696032\nPhenotypes for gene: SETX were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM#\t606002\nReview for gene: SETX was set to GREEN\nAdded comment: Dystonia was present in around 13% in a cohort of 90 affected individuals. \nSources: Expert list","entity_name":"SETX","entity_type":"gene"},{"created":"2020-09-09T09:41:57.908402+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSEN1 as ready","entity_name":"PSEN1","entity_type":"gene"},{"created":"2020-09-09T09:41:57.898236+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psen1 has been classified as Green List (High Evidence).","entity_name":"PSEN1","entity_type":"gene"},{"created":"2020-09-09T09:41:55.867661+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PSEN1 were changed from Frontotemporal dementia; Dystonia to Frontotemporal dementia, MIM# 600274; Dystonia","entity_name":"PSEN1","entity_type":"gene"},{"created":"2020-09-09T09:41:41.336064+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PSEN1 as Green List (high evidence)","entity_name":"PSEN1","entity_type":"gene"},{"created":"2020-09-09T09:41:41.327142+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psen1 has been classified as Green List (High Evidence).","entity_name":"PSEN1","entity_type":"gene"},{"created":"2020-09-09T09:41:33.169821+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Variants in this gene are typically associated with Alzheimer's disease and other dementias. One case report of a primary presentation with Parkinsonism-dystonia, later complicated by dementia.; to: Variants in this gene are typically associated with Alzheimer's disease and other dementias but there are reports of complex movement disorders preceding or as part of dementia presentations.","entity_name":"PSEN1","entity_type":"gene"},{"created":"2020-09-09T09:40:57.026487+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PSEN1: Changed rating: GREEN; Changed publications: 12810495, 15159497, 29316780, 28664294","entity_name":"PSEN1","entity_type":"gene"},{"created":"2020-09-09T09:40:03.741922+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PSEN1 as Red List (low evidence)","entity_name":"PSEN1","entity_type":"gene"},{"created":"2020-09-09T09:40:03.731359+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psen1 has been classified as Red List (Low Evidence).","entity_name":"PSEN1","entity_type":"gene"},{"created":"2020-09-09T09:39:52.788242+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PSEN1: Rating: RED; Mode of pathogenicity: None; Publications: 28664294; Phenotypes: Dementia, frontotemporal, MIM# 600274; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PSEN1","entity_type":"gene"},{"created":"2020-09-09T09:33:33.120937+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLR3A as ready","entity_name":"POLR3A","entity_type":"gene"},{"created":"2020-09-09T09:33:33.110566+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr3a has been classified as Green List (High Evidence).","entity_name":"POLR3A","entity_type":"gene"},{"created":"2020-09-09T09:33:25.789532+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLR3A as Green List (high evidence)","entity_name":"POLR3A","entity_type":"gene"},{"created":"2020-09-09T09:33:25.779205+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr3a has been classified as Green List (High Evidence).","entity_name":"POLR3A","entity_type":"gene"},{"created":"2020-09-09T09:33:16.475793+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLR3A was added\ngene: POLR3A was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3A were set to 32600288; 32373668; 31940116; 31932101; 29618326\nPhenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM#\t607694; Striatal abnormalities; Dystonia\nReview for gene: POLR3A was set to GREEN\nAdded comment: Multiple individuals reported where dystonia is part of the phenotype. Some of these have had hypomyelinating leukodystrophy, whereas others have had very prominent striatal abnormalities on MRI, in the absence of white matter changes. It is unclear whether this represents a continuum or a separate disorder. \nSources: Expert list","entity_name":"POLR3A","entity_type":"gene"},{"created":"2020-09-09T09:25:57.011480+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNKP as ready","entity_name":"PNKP","entity_type":"gene"},{"created":"2020-09-09T09:25:56.998957+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnkp has been classified as Green List (High Evidence).","entity_name":"PNKP","entity_type":"gene"},{"created":"2020-09-09T09:25:53.308487+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PNKP as Green List (high evidence)","entity_name":"PNKP","entity_type":"gene"},{"created":"2020-09-09T09:25:53.298229+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnkp has been classified as Green List (High Evidence).","entity_name":"PNKP","entity_type":"gene"},{"created":"2020-09-09T09:25:44.593483+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PNKP was added\ngene: PNKP was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNKP were set to 28552035; 25728773\nPhenotypes for gene: PNKP were set to Ataxia-oculomotor apraxia 4, MIM#\t616267\nReview for gene: PNKP was set to GREEN\nAdded comment: Dystonia is part of this complex neurological phenotype, which also includes ataxia, oculomotor apraxia and peripheral neuropathy. \nSources: Expert list","entity_name":"PNKP","entity_type":"gene"},{"created":"2020-09-09T09:17:08.335184+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDGFRB as ready","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2020-09-09T09:17:08.321942+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdgfrb has been classified as Red List (Low Evidence).","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2020-09-09T09:17:05.888645+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDGFRB were changed from Dystonia; Basal ganglia calcification, idiopathic, 4 615007 to Basal ganglia calcification, idiopathic, 4, MIM# 615007","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2020-09-09T09:16:52.729707+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDGFRB were set to ","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2020-09-09T09:16:45.136908+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDGFRB as Red List (low evidence)","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2020-09-09T09:16:45.126436+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdgfrb has been classified as Red List (Low Evidence).","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2020-09-09T09:16:25.840855+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDGFRB: Rating: RED; Mode of pathogenicity: None; Publications: 24518837; Phenotypes: Basal ganglia calcification, idiopathic, MIM#4 615007; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2020-09-09T08:36:51.152286+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4285","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:DNAJC7 from the panel","entity_name":null,"entity_type":null},{"created":"2020-09-09T08:36:05.743045+10:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNAJC7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DNAJC7","entity_type":"gene"},{"created":"2020-09-09T08:35:17.832906+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJC7 as ready","entity_name":"DNAJC7","entity_type":"gene"},{"created":"2020-09-09T08:35:17.821286+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc7 has been classified as Amber List (Moderate Evidence).","entity_name":"DNAJC7","entity_type":"gene"},{"created":"2020-09-09T08:35:13.021349+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAJC7 as Amber List (moderate evidence)","entity_name":"DNAJC7","entity_type":"gene"},{"created":"2020-09-09T08:35:13.010959+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc7 has been classified as Amber List (Moderate Evidence).","entity_name":"DNAJC7","entity_type":"gene"},{"created":"2020-09-09T08:34:45.535550+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAJC7 was added\ngene: DNAJC7 was added to Incidentalome. Sources: Literature\nMode of inheritance for gene: DNAJC7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DNAJC7 were set to 31768050\nPhenotypes for gene: DNAJC7 were set to amyotrophic lateral sclerosis\nReview for gene: DNAJC7 was set to AMBER\nAdded comment: Two cohort studies in ALS patients identified 11 and 1 patient, respectively, with variants in DNAJC7. Seven of these are putative PTVs. No segregation or functional data. A small number of individuals with LOF variants are present in gnomad albeit less than expected. Given these are cohort studies, and an adult-onset condition, potentially of variable penetrance, we have taken a cautious approach and rated Amber for now. \nSources: Literature","entity_name":"DNAJC7","entity_type":"gene"}]}