{"count":221303,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1656","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1654","results":[{"created":"2020-08-26T13:03:28.616356+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.10","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444548; Phenotypes: Epilepsy, familial focal, with variable foci 1 (MIM#604364); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2020-08-26T13:03:28.300245+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.60","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: SRD5A3: Rating: RED; Mode of pathogenicity: None; Publications: 18271001, 20637498, 31638560, 27480077; Phenotypes: Congenital disorder of glycosylation, type Iq (MIM#612379); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-08-26T12:31:34.465665+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.60","user_name":"Ain Roesley","item_type":"entity","text":"gene: DCHS1 was added\ngene: DCHS1 was added to Lissencephaly and Band Heterotopia. Sources: Literature\nMode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCHS1 were set to 27262615; 22473091\nPhenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1\t(MIM#601390)\nPenetrance for gene: DCHS1 were set to unknown\nReview for gene: DCHS1 was set to GREEN\nAdded comment: PMID: 27262615;\r\n- cohort of 26x  periventricular band heterotopias however 2x had additional phenotype of pachygyria\r\n- 2nd cohort of 10x band heterotopias\r\n\r\nPMID: 22473091;\r\n- 1x patient with localised areas of cortical thickening and gyral simplification \nSources: Literature","entity_name":"DCHS1","entity_type":"gene"},{"created":"2020-08-26T12:23:39.065839+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.10","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: STRADA: Rating: RED; Mode of pathogenicity: None; Publications: 28688840, 17522105, 27170158, 23616120; Phenotypes: Polyhydramnios, megalencephaly, and symptomatic epilepsy (MIM#611087); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"STRADA","entity_type":"gene"},{"created":"2020-08-26T11:29:08.630857+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.60","user_name":"Belinda Chong","item_type":"entity","text":"gene: NSDHL was added\ngene: NSDHL was added to Lissencephaly and Band Heterotopia. Sources: Literature\nMode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: NSDHL were set to 19377476; 19842190; 21129721\nPhenotypes for gene: NSDHL were set to CK syndrome 300831\nReview for gene: NSDHL was set to AMBER\ngene: NSDHL was marked as current diagnostic\nAdded comment: First described in 7 males from a five-generation family, 1-bp duplication p.(Lys232del) reported by Tarpey et al. (2009). PMID:19377476.\r\n\r\nSecond affected family, p.(Arg367SerFs*33) reported by Tarpey et al. (2009) and McLarren et al. (2010) (PMID:19842190; 21129721). Functional studies showed that both mutations in these families result in partial loss of the function of the NSDHL protein and cause a distinct phenotype characterized by intellectual disability, seizures, microcephaly, cerebral cortical malformations, minor facial anomalies, and thin body habitus.\r\n\r\nThird described in five- generation family (missense -p.Gly152Asp) with affected males manifesting clinical features of CK syndrome. (https://doi.org/10.1002/ajmg.a.36999). Clinical feature described in the paper similar to CK syndrome however, no mention of cortical malformation, pachygyria, polymicrogyria, features mentioned in OMIM. But one affected male has a CT scan showing atrophic changes in the brain, internal hydrocephalus, and possible subependymal gray matter heterotopia. NB: Therefore, unsure if this is the third family hence leaving as Amber. \nSources: Literature","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-08-26T11:28:53.556981+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.97","user_name":"Ain Roesley","item_type":"entity","text":"gene: DAG1 was added\ngene: DAG1 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAG1 were set to 24052401\nPhenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)\nPenetrance for gene: DAG1 were set to unknown\nReview for gene: DAG1 was set to RED\nAdded comment: Also known as Walker-Warburg syndrome\r\n\r\nPMID: 24052401;\r\n- two Libyan siblings\r\n- MRI showed thin cortical layer resembling diffuse polymicrogyria with frontal agyria \nSources: Literature","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-08-26T11:27:15.351065+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.97","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: NSDHL: Rating: AMBER; Mode of pathogenicity: None; Publications: 19377476, 19842190, 21129721; Phenotypes: CK syndrome 300831; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-08-26T11:17:38.508766+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.97","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: TMEM216: Rating: RED; Mode of pathogenicity: None; Publications: 20512146; Phenotypes: Joubert syndrome 2 (MIM#608091); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-08-26T11:12:19.177833+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.60","user_name":"Naomi Baker","item_type":"entity","text":"changed review comment from: OSGEP mutations are associated with Galloway–Mowat syndrome, MIM#617729.  Six Taiwanese patients, including two siblings, examined by either congenital MRI or cranial CT had pachygyria and hypomyelination (PMID:30558655). \nSources: Literature; to: OSGEP mutations are associated with Galloway–Mowat syndrome, MIM#617729.  Six Taiwanese patients, including two siblings, examined by either congenital MRI or cranial CT had pachygyria and hypomyelination (PMID:30558655). Another reports describes OSGEP mutations in multiple individuals, with at least three reported as having pachygyria (PMID:28805828).   \r\nSources: Literature","entity_name":"OSGEP","entity_type":"gene"},{"created":"2020-08-26T11:07:31.579456+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.60","user_name":"Naomi Baker","item_type":"entity","text":"gene: OSGEP was added\ngene: OSGEP was added to Lissencephaly and Band Heterotopia. Sources: Literature\nMode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OSGEP were set to PMID: 30558655\nPhenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, MIM#617729\nPenetrance for gene: OSGEP were set to Complete\nReview for gene: OSGEP was set to GREEN\nAdded comment: OSGEP mutations are associated with Galloway–Mowat syndrome, MIM#617729.  Six Taiwanese patients, including two siblings, examined by either congenital MRI or cranial CT had pachygyria and hypomyelination (PMID:30558655). \nSources: Literature","entity_name":"OSGEP","entity_type":"gene"},{"created":"2020-08-26T10:42:31.774702+10:00","panel_name":"Cobblestone Malformations","panel_id":6,"panel_version":"0.8","user_name":"Ain Roesley","item_type":"entity","text":"gene: DAG1 was added\ngene: DAG1 was added to Cobblestone Malformations. Sources: Literature\nMode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAG1 were set to 29337005\nPhenotypes for gene: DAG1 were set to Walker-Warburg syndrome associated with tectocerebellar dysraphia; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9\t(MIM#616538)\nPenetrance for gene: DAG1 were set to unknown\nReview for gene: DAG1 was set to RED\nAdded comment: PMID: 29337005;\r\n- 1x consanguineous Israeli-Arab kindred with Walker-Warburg syndrome \r\n- The imaging studies demonstrated: cobblestone cortex, hydrocephalus, z-shaped brainstem, and in addition occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia).\r\n- homozygous frameshift \nSources: Literature","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-08-26T09:46:50.567355+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.60","user_name":"Ain Roesley","item_type":"entity","text":"gene: CSNK2A1 was added\ngene: CSNK2A1 was added to Lissencephaly and Band Heterotopia. Sources: Literature\nMode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CSNK2A1 were set to 27048600; 29240241\nPhenotypes for gene: CSNK2A1 were set to Okur-Chung neurodevelopmental syndrome\t(MIM#617062)\nPenetrance for gene: CSNK2A1 were set to unknown\nReview for gene: CSNK2A1 was set to AMBER\nAdded comment: PMID: 27048600;\r\n- 5 unrelated patients\r\n- 1x pachygyria + 1x simplified gyral cortication\r\n\r\nPMID: 29240241;\r\n- summary of reports thus far, no additional patients with cortical malformations\r\n\r\n* all variants reported are de novo \nSources: Literature","entity_name":"CSNK2A1","entity_type":"gene"},{"created":"2020-08-26T09:25:54.400717+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2875","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDE2A as ready","entity_name":"PDE2A","entity_type":"gene"},{"created":"2020-08-26T09:25:54.388861+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2875","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde2a has been classified as Amber List (Moderate Evidence).","entity_name":"PDE2A","entity_type":"gene"},{"created":"2020-08-26T09:25:48.975162+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2875","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDE2A as Amber List (moderate evidence)","entity_name":"PDE2A","entity_type":"gene"},{"created":"2020-08-26T09:25:48.966906+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2875","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde2a has been classified as Amber List (Moderate Evidence).","entity_name":"PDE2A","entity_type":"gene"},{"created":"2020-08-26T09:25:20.369361+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2874","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDE2A was added\ngene: PDE2A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: PDE2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE2A were set to 32467598; 32196122; 29392776\nPhenotypes for gene: PDE2A were set to Paroxysmal dyskinesia\nReview for gene: PDE2A was set to AMBER\nAdded comment: Four unrelated families reported with childhood-onset refractory paroxysmal dyskinesia with cognitive impairment, sometimes associated with choreodystonia and interictal baseline EEG abnormalities or epilepsy. One of the reports characterises the disorder as 'Rett-like'. Unclear at this time what proportion of affected individuals have ID as part of the phenotype. \nSources: Expert list","entity_name":"PDE2A","entity_type":"gene"},{"created":"2020-08-26T09:23:22.975785+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3939","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDE2A as ready","entity_name":"PDE2A","entity_type":"gene"},{"created":"2020-08-26T09:23:22.956253+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3939","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde2a has been classified as Green List (High Evidence).","entity_name":"PDE2A","entity_type":"gene"},{"created":"2020-08-26T09:23:11.328391+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3939","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDE2A as Green List (high evidence)","entity_name":"PDE2A","entity_type":"gene"},{"created":"2020-08-26T09:23:11.317983+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3939","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde2a has been classified as Green List (High Evidence).","entity_name":"PDE2A","entity_type":"gene"},{"created":"2020-08-26T09:22:52.437379+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3938","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDE2A was added\ngene: PDE2A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PDE2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE2A were set to 32467598; 32196122; 29392776\nPhenotypes for gene: PDE2A were set to Paroxysmal dyskinesia\nReview for gene: PDE2A was set to GREEN\nAdded comment: Four unrelated families reported with childhood-onset refractory paroxysmal dyskinesia with cognitive impairment, sometimes associated with choreodystonia and interictal baseline EEG abnormalities or epilepsy. One of the reports characterises the disorder as 'Rett-like'. \nSources: Literature","entity_name":"PDE2A","entity_type":"gene"},{"created":"2020-08-26T08:43:31.485841+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDE2A as ready","entity_name":"PDE2A","entity_type":"gene"},{"created":"2020-08-26T08:43:31.475836+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde2a has been classified as Green List (High Evidence).","entity_name":"PDE2A","entity_type":"gene"},{"created":"2020-08-26T08:43:22.376153+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDE2A as Green List (high evidence)","entity_name":"PDE2A","entity_type":"gene"},{"created":"2020-08-26T08:43:22.365878+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde2a has been classified as Green List (High Evidence).","entity_name":"PDE2A","entity_type":"gene"},{"created":"2020-08-26T08:42:32.864097+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDE2A was added\ngene: PDE2A was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: PDE2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE2A were set to 32467598; 32196122; 29392776\nPhenotypes for gene: PDE2A were set to Paroxysmal dyskinesia\nReview for gene: PDE2A was set to GREEN\nAdded comment: Four unrelated families reported with childhood-onset refractory paroxysmal dyskinesia with cognitive impairment, sometimes associated with choreodystonia and interictal baseline EEG abnormalities or epilepsy. One of the reports characterises the disorder as 'Rett-like'. \nSources: Literature","entity_name":"PDE2A","entity_type":"gene"},{"created":"2020-08-26T08:38:56.536824+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-08-25T20:23:05.256015+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COASY as ready","entity_name":"COASY","entity_type":"gene"},{"created":"2020-08-25T20:23:05.246677+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coasy has been classified as Amber List (Moderate Evidence).","entity_name":"COASY","entity_type":"gene"},{"created":"2020-08-25T20:22:30.789657+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COASY were changed from  to Neurodegeneration with brain iron accumulation 6, MIM# 615643","entity_name":"COASY","entity_type":"gene"},{"created":"2020-08-25T20:22:04.260269+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COASY were set to ","entity_name":"COASY","entity_type":"gene"},{"created":"2020-08-25T20:21:31.640110+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COASY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COASY","entity_type":"gene"},{"created":"2020-08-25T20:20:47.863691+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COASY as Amber List (moderate evidence)","entity_name":"COASY","entity_type":"gene"},{"created":"2020-08-25T20:20:47.852721+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coasy has been classified as Amber List (Moderate Evidence).","entity_name":"COASY","entity_type":"gene"},{"created":"2020-08-25T20:20:20.310526+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COASY: Rating: AMBER; Mode of pathogenicity: None; Publications: 28489334, 24360804; Phenotypes: Neurodegeneration with brain iron accumulation 6, MIM# 615643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COASY","entity_type":"gene"},{"created":"2020-08-25T20:15:15.358265+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLN3 as ready","entity_name":"CLN3","entity_type":"gene"},{"created":"2020-08-25T20:15:15.349619+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cln3 has been classified as Green List (High Evidence).","entity_name":"CLN3","entity_type":"gene"},{"created":"2020-08-25T20:15:11.739336+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLN3 were changed from  to Ceroid lipofuscinosis, neuronal, 3 MIM#204200","entity_name":"CLN3","entity_type":"gene"},{"created":"2020-08-25T20:14:44.280424+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLN3 were set to 19489875; 11342698","entity_name":"CLN3","entity_type":"gene"},{"created":"2020-08-25T20:14:16.304245+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLN3","entity_type":"gene"},{"created":"2020-08-25T20:14:02.466402+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLN3 were set to ","entity_name":"CLN3","entity_type":"gene"},{"created":"2020-08-25T20:04:08.214759+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C9orf72 as ready","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-08-25T20:04:08.206011+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c9orf72 has been classified as Green List (High Evidence).","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-08-25T20:03:56.391267+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C9orf72 as Green List (high evidence)","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-08-25T20:03:56.383008+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c9orf72 has been classified as Green List (High Evidence).","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-08-25T20:03:30.944871+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C9orf72 was added\ngene: C9orf72 was added to Early-onset Dementia. Sources: Expert list\nSTR tags were added to gene: C9orf72.\nMode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: C9orf72 were set to 31779815; 21944778; 21944779\nPhenotypes for gene: C9orf72 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550\nReview for gene: C9orf72 was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-08-25T19:53:06.972128+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C9orf72 were changed from  to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-08-25T19:51:17.637662+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C9orf72 were set to ","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-08-25T19:50:50.764515+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: C9orf72 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-08-25T19:47:09.708127+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: APP as ready","entity_name":"APP","entity_type":"gene"},{"created":"2020-08-25T19:47:09.697643+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: app has been classified as Amber List (Moderate Evidence).","entity_name":"APP","entity_type":"gene"},{"created":"2020-08-25T19:46:59.418499+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: APP were changed from  to Alzheimer disease 1, familial, MIM# 104300","entity_name":"APP","entity_type":"gene"},{"created":"2020-08-25T19:46:34.552419+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: APP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"APP","entity_type":"gene"},{"created":"2020-08-25T19:45:58.202960+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: APP as Amber List (moderate evidence)","entity_name":"APP","entity_type":"gene"},{"created":"2020-08-25T19:45:58.194852+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: app has been classified as Amber List (Moderate Evidence).","entity_name":"APP","entity_type":"gene"},{"created":"2020-08-25T19:45:34.280462+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: APP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alzheimer disease 1, familial, MIM# 104300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"APP","entity_type":"gene"},{"created":"2020-08-25T18:33:29.702459+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OTULIN as ready","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:33:29.689606+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otulin has been classified as Green List (High Evidence).","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:33:27.152596+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OTULIN were changed from  to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:33:06.498082+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OTULIN were set to ","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:32:44.220359+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OTULIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:32:19.451226+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27523608, 27559085; Phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:31:17.093135+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3937","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OTULIN as ready","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:31:17.082149+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3937","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otulin has been classified as Green List (High Evidence).","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:31:10.579443+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3937","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OTULIN were changed from  to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:30:49.631920+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3936","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OTULIN were set to ","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:30:31.722768+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3935","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OTULIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:30:14.537019+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3934","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27523608, 27559085; Phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:29:37.707291+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OTULIN as ready","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:29:37.696909+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otulin has been classified as Green List (High Evidence).","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:29:13.295266+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OTULIN as Green List (high evidence)","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:29:13.283888+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otulin has been classified as Green List (High Evidence).","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:28:58.647701+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OTULIN as Green List (high evidence)","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:28:58.636775+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otulin has been classified as Green List (High Evidence).","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:28:26.309957+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OTULIN was added\ngene: OTULIN was added to Inflammatory bowel disease. Sources: Expert list\nMode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OTULIN were set to 27523608; 27559085\nPhenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, MIM#\t617099\nReview for gene: OTULIN was set to GREEN\nAdded comment: Autoinflammatory disorder where diarrhoea is one of the presenting features in addition to recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. \nSources: Expert list","entity_name":"OTULIN","entity_type":"gene"},{"created":"2020-08-25T18:22:22.447265+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Variants in NOD2 (particularly bi-allelic ones) are associated with increased risk of Crohn's disease. \nSources: Expert Review; to: Variants in NOD2 (particularly bi-allelic ones) are associated with increased risk of Crohn's disease. 7% of a cohort of 401 patients with Crohn's had NOD2 bi-allelic variants.\r\nSources: Expert Review","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-25T18:21:40.494640+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NOD2: Changed publications: 11385576, 17804789, 32463623; Changed phenotypes: {Inflammatory bowel disease 1, Crohn disease} 266600, {Yao syndrome} 617321","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-25T18:15:03.458168+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FERMT1 as ready","entity_name":"FERMT1","entity_type":"gene"},{"created":"2020-08-25T18:15:03.448962+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fermt1 has been classified as Red List (Low Evidence).","entity_name":"FERMT1","entity_type":"gene"},{"created":"2020-08-25T18:15:00.909872+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FERMT1 were changed from  to Kindler syndrome, MIM# 173650","entity_name":"FERMT1","entity_type":"gene"},{"created":"2020-08-25T18:14:38.885595+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FERMT1 were set to ","entity_name":"FERMT1","entity_type":"gene"},{"created":"2020-08-25T18:14:12.461020+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FERMT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FERMT1","entity_type":"gene"},{"created":"2020-08-25T18:13:43.561415+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FERMT1 as Red List (low evidence)","entity_name":"FERMT1","entity_type":"gene"},{"created":"2020-08-25T18:13:43.549759+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fermt1 has been classified as Red List (Low Evidence).","entity_name":"FERMT1","entity_type":"gene"},{"created":"2020-08-25T18:13:16.325477+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FERMT1: Rating: RED; Mode of pathogenicity: None; Publications: 19057668, 27537055, 32463623; Phenotypes: Kindler syndrome, MIM# 173650; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FERMT1","entity_type":"gene"},{"created":"2020-08-25T13:30:43.364999+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3934","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RRAGC were set to ","entity_name":"RRAGC","entity_type":"gene"},{"created":"2020-08-25T13:30:24.669833+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3933","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RRAGC as ready","entity_name":"RRAGC","entity_type":"gene"},{"created":"2020-08-25T13:30:24.658098+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3933","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rragc has been classified as Red List (Low Evidence).","entity_name":"RRAGC","entity_type":"gene"},{"created":"2020-08-25T13:30:17.955659+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3933","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RRAGC were changed from  to Dilated cardiomyopathy; cataract","entity_name":"RRAGC","entity_type":"gene"},{"created":"2020-08-25T13:29:52.939928+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RRAGC as ready","entity_name":"RRAGC","entity_type":"gene"},{"created":"2020-08-25T13:29:52.930449+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rragc has been classified as Red List (Low Evidence).","entity_name":"RRAGC","entity_type":"gene"},{"created":"2020-08-25T13:29:47.409594+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RRAGC as Red List (low evidence)","entity_name":"RRAGC","entity_type":"gene"},{"created":"2020-08-25T13:29:47.401842+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rragc has been classified as Red List (Low Evidence).","entity_name":"RRAGC","entity_type":"gene"},{"created":"2020-08-25T13:29:34.886173+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RRAGC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"RRAGC","entity_type":"gene"},{"created":"2020-08-25T13:28:00.380656+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3932","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RRAGC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RRAGC","entity_type":"gene"},{"created":"2020-08-25T13:27:45.639267+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3931","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RRAGC as Red List (low evidence)","entity_name":"RRAGC","entity_type":"gene"},{"created":"2020-08-25T13:27:45.629771+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3931","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rragc has been classified as Red List (Low Evidence).","entity_name":"RRAGC","entity_type":"gene"},{"created":"2020-08-25T13:27:27.559819+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3930","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RRAGC: Rating: RED; Mode of pathogenicity: None; Publications: 27234373; Phenotypes: Dilated cardiomyopathy, cataract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RRAGC","entity_type":"gene"},{"created":"2020-08-25T13:22:54.315966+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3930","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RANBP17 as ready","entity_name":"RANBP17","entity_type":"gene"}]}