{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1799","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1797","results":[{"created":"2020-05-18T12:41:08.466104+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.62","user_name":"Crystle Lee","item_type":"entity","text":"gene: GLI3 was added\ngene: GLI3 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review\nMode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome (MIM#175700); Pallister-Hall syndrome (MIM#146510)\nReview for gene: GLI3 was set to AMBER\nAdded comment: Ciliopathy with some overlapping features of JS, primarily skeletal manifestation.\r\n\r\nPMID: 24736735; In a cohort of 55 families, hypoplastic cerebellum was found in 2 patients but without the characteristic molar tooth sign. There appears to be overlapping JS features including limb and craniofacial abnormalities \nSources: Expert Review","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-05-18T12:31:19.067565+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.152","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24736735; Phenotypes: Greig cephalopolysyndactyly syndrome (MIM#175700), Pallister-Hall syndrome (MIM#146510); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-05-18T11:22:03.854434+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy","panel_id":179,"panel_version":"0.11","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29068549, 25492405, 21258341; Phenotypes: Short-rib thoracic dysplasia 4 with or without polydactyly (MIM#613819); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC21B","entity_type":"gene"},{"created":"2020-05-18T10:18:14.557677+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2825","user_name":"Russell Gear","item_type":"entity","text":"gene: PDXK was added\ngene: PDXK was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PDXK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDXK were set to (PMID: 31187503)\nPhenotypes for gene: PDXK were set to Axonal polyneuropathy; optic atrophy\nReview for gene: PDXK was set to RED\nAdded comment: Currently two unrelated families with axonal polyneuropathy and optic atrophy described in the same paper, with bi-allelic PDXK pathogenic variants. Functional work in the same paper includes work on patient derived fibroblasts, measurement of an axonal damage biomarker (NFL protein), and response to PLP supplementation treatment. \r\n\r\nNeed one further unrelated family to upgrade to green? \nSources: Literature","entity_name":"PDXK","entity_type":"gene"},{"created":"2020-05-18T09:23:41.923658+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.62","user_name":"Crystle Lee","item_type":"entity","text":"changed review comment from: Weak evidence supporting gene as causative of JS. \r\n\r\n\r\nPMID: 21258341; Davis 2011; Reported het variants in 3 JBTS patients however one of the missense variants, M1186V, present in gnomAD (10 hets) and multiple MKS patients. T231S in one MKS patient present in gnomAD 280 hets and 2 hom.; to: Weak evidence supporting gene as causative of JS. \r\n\r\nPMID: 21258341; Davis 2011; Reported het variants in 3 JBTS patients however one of the missense variants, M1186V, present in gnomAD (10 hets) and multiple MKS patients. T231S in one MKS patient present in gnomAD 280 hets and 2 hom.","entity_name":"TTC21B","entity_type":"gene"},{"created":"2020-05-18T09:23:36.351528+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.62","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: 21258341; Phenotypes: ; Mode of inheritance: None","entity_name":"TTC21B","entity_type":"gene"},{"created":"2020-05-18T09:15:55.289117+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.62","user_name":"Crystle Lee","item_type":"entity","text":"Deleted their review","entity_name":"TTC21B","entity_type":"gene"},{"created":"2020-05-18T09:04:18.945312+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.62","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: 25492405, 21258341; Phenotypes: Short-rib thoracic dysplasia 4 with or without polydactyly (MIM#613819); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC21B","entity_type":"gene"},{"created":"2020-05-18T07:34:40.792239+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.60","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: PMID: 29146883; 6 unrelated individuals with heamatological defects without RUS. de novo variants cause severe aplastic anemia (AA) occuring within the first months of life that requries hematopoietic stem cel transplatation (HSCT). \r\nMutational spectrum: 2 missense, 2 frameshifts, 1 nonsense and 1 splice; to: PMID: 29146883; 5 unrelated individuals with heamatological defects without RUS. de novo variants cause severe aplastic anemia (AA) occuring within the first months of life that requries hematopoietic stem cel transplatation (HSCT). \r\nMutational spectrum: 1 missense, 2 frameshifts, 1 nonsense and 1 splice","entity_name":"MECOM","entity_type":"gene"},{"created":"2020-05-15T19:41:13.413279+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MECOM were changed from Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738 to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738; Bone marrow failure without radioulnar synostosis (RUS)","entity_name":"MECOM","entity_type":"gene"},{"created":"2020-05-15T19:40:17.482259+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MECOM were set to 26581901; 29519864","entity_name":"MECOM","entity_type":"gene"},{"created":"2020-05-15T18:19:49.923912+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.109","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: ANLN: Rating: AMBER; Mode of pathogenicity: None; Publications: 24676636, 30002222; Phenotypes: Focal segmental glomerulosclerosis 8 616032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANLN","entity_type":"gene"},{"created":"2020-05-15T17:59:54.238346+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.109","user_name":"Michelle Torres","item_type":"entity","text":"Deleted their review","entity_name":"ANLN","entity_type":"gene"},{"created":"2020-05-15T11:18:47.194830+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.109","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: ANLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24676636, 30002222; Phenotypes: Focal segmental glomerulosclerosis 8 616032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANLN","entity_type":"gene"},{"created":"2020-05-15T09:21:45.650442+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.58","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29146883; Phenotypes: bone marrow failure without radioulnar synostosis (RUS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MECOM","entity_type":"gene"},{"created":"2020-05-14T21:06:39.947837+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IQCE as ready","entity_name":"IQCE","entity_type":"gene"},{"created":"2020-05-14T21:06:39.939008+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iqce has been classified as Green List (High Evidence).","entity_name":"IQCE","entity_type":"gene"},{"created":"2020-05-14T21:00:31.458450+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-05-14T18:24:45.785410+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.150","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: IQCE as Green List (high evidence)","entity_name":"IQCE","entity_type":"gene"},{"created":"2020-05-14T18:24:45.774481+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.150","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: iqce has been classified as Green List (High Evidence).","entity_name":"IQCE","entity_type":"gene"},{"created":"2020-05-14T18:24:04.731890+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.149","user_name":"Bryony Thompson","item_type":"entity","text":"gene: IQCE was added\ngene: IQCE was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IQCE were set to 31549751; 28488682\nPhenotypes for gene: IQCE were set to Postaxial polydactyly","entity_name":"IQCE","entity_type":"gene"},{"created":"2020-05-14T17:05:54.972633+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDE6D as Amber List (moderate evidence)","entity_name":"PDE6D","entity_type":"gene"},{"created":"2020-05-14T17:05:54.963548+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde6d has been classified as Amber List (Moderate Evidence).","entity_name":"PDE6D","entity_type":"gene"},{"created":"2020-05-14T17:05:25.368786+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PDE6D: Changed rating: AMBER","entity_name":"PDE6D","entity_type":"gene"},{"created":"2020-05-14T17:05:19.284409+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: PDE6D: Second family reported.","entity_name":"PDE6D","entity_type":"gene"},{"created":"2020-05-14T17:05:06.332121+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PDE6D: Changed publications: 24166846, 30423442","entity_name":"PDE6D","entity_type":"gene"},{"created":"2020-05-14T17:04:48.635085+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PDE6D: Changed rating: AMBER; Changed publications: 24166846, 30423442","entity_name":"PDE6D","entity_type":"gene"},{"created":"2020-05-14T17:03:43.673247+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDE6D as ready","entity_name":"PDE6D","entity_type":"gene"},{"created":"2020-05-14T17:03:43.664226+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde6d has been classified as Red List (Low Evidence).","entity_name":"PDE6D","entity_type":"gene"},{"created":"2020-05-14T17:03:39.934243+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDE6D as Red List (low evidence)","entity_name":"PDE6D","entity_type":"gene"},{"created":"2020-05-14T17:03:39.925171+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde6d has been classified as Red List (Low Evidence).","entity_name":"PDE6D","entity_type":"gene"},{"created":"2020-05-14T16:57:50.320844+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2825","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDP as ready","entity_name":"NDP","entity_type":"gene"},{"created":"2020-05-14T16:57:50.308627+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2825","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndp has been classified as Green List (High Evidence).","entity_name":"NDP","entity_type":"gene"},{"created":"2020-05-14T16:57:39.202238+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2825","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDP were changed from  to Exudative vitreoretinopathy 2, X-linked, MIM 305390; Norrie disease, MIM 310600","entity_name":"NDP","entity_type":"gene"},{"created":"2020-05-14T16:57:18.967674+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2824","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDP were set to ","entity_name":"NDP","entity_type":"gene"},{"created":"2020-05-14T16:56:57.655199+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2823","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NDP","entity_type":"gene"},{"created":"2020-05-14T16:55:41.554202+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCLT1 as ready","entity_name":"SCLT1","entity_type":"gene"},{"created":"2020-05-14T16:55:41.541600+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sclt1 has been classified as Red List (Low Evidence).","entity_name":"SCLT1","entity_type":"gene"},{"created":"2020-05-14T16:55:23.235519+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCLT1 were changed from Orofaciodigital syndrome type IX; Senior-Loken syndrome to Orofaciodigital syndrome type IX; Senior-Loken syndrome; Bardet-Biedl syndrome","entity_name":"SCLT1","entity_type":"gene"},{"created":"2020-05-14T16:54:40.650656+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCLT1 as Red List (low evidence)","entity_name":"SCLT1","entity_type":"gene"},{"created":"2020-05-14T16:54:40.638097+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sclt1 has been classified as Red List (Low Evidence).","entity_name":"SCLT1","entity_type":"gene"},{"created":"2020-05-14T16:54:12.716295+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCLT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome type IX, Senior-Loken syndrome, Bardet-Biedl syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCLT1","entity_type":"gene"},{"created":"2020-05-14T16:49:42.573813+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POC1B as ready","entity_name":"POC1B","entity_type":"gene"},{"created":"2020-05-14T16:49:42.567830+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Mostly ocular phenotype consistent with ciliopathy, insufficient reports to support association with JS/brain phenotypes.","entity_name":"POC1B","entity_type":"gene"},{"created":"2020-05-14T16:49:42.525915+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: poc1b has been classified as Red List (Low Evidence).","entity_name":"POC1B","entity_type":"gene"},{"created":"2020-05-14T16:49:18.712003+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POC1B as Red List (low evidence)","entity_name":"POC1B","entity_type":"gene"},{"created":"2020-05-14T16:49:18.701364+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: poc1b has been classified as Red List (Low Evidence).","entity_name":"POC1B","entity_type":"gene"},{"created":"2020-05-14T16:47:55.905968+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIAA0753 as ready","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2020-05-14T16:47:55.901620+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Sufficient number of families with neurological features consistent with ciliopathy/JS.","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2020-05-14T16:47:55.869994+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0753 has been classified as Green List (High Evidence).","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2020-05-14T16:46:56.928123+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIAA0753 as Green List (high evidence)","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2020-05-14T16:46:56.918657+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0753 has been classified as Green List (High Evidence).","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2020-05-14T16:45:25.598984+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS13B as ready","entity_name":"VPS13B","entity_type":"gene"},{"created":"2020-05-14T16:45:25.589556+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps13b has been classified as Amber List (Moderate Evidence).","entity_name":"VPS13B","entity_type":"gene"},{"created":"2020-05-14T16:45:19.597224+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS13B as Amber List (moderate evidence)","entity_name":"VPS13B","entity_type":"gene"},{"created":"2020-05-14T16:45:19.583824+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps13b has been classified as Amber List (Moderate Evidence).","entity_name":"VPS13B","entity_type":"gene"},{"created":"2020-05-14T16:44:20.020230+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM107 were changed from Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563) to Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563); Joubert syndrome 29, MIM# 617562","entity_name":"TMEM107","entity_type":"gene"},{"created":"2020-05-14T16:42:52.463735+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2822","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM107 as ready","entity_name":"TMEM107","entity_type":"gene"},{"created":"2020-05-14T16:42:52.450178+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2822","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem107 has been classified as Green List (High Evidence).","entity_name":"TMEM107","entity_type":"gene"},{"created":"2020-05-14T16:42:43.874885+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2822","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM107 were changed from  to Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563); Joubert syndrome 29, MIM# 617562","entity_name":"TMEM107","entity_type":"gene"},{"created":"2020-05-14T16:42:18.438492+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2821","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM107 were set to ","entity_name":"TMEM107","entity_type":"gene"},{"created":"2020-05-14T16:41:57.708639+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2820","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM107 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM107","entity_type":"gene"},{"created":"2020-05-14T16:41:39.068719+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2819","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM107: Rating: GREEN; Mode of pathogenicity: None; Publications: 26518474, 26595381, 26123494; Phenotypes: Meckel syndrome 13 (MIM#617562), Orofaciodigital syndrome XVI (MIM#617563), Joubert syndrome 29 617562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM107","entity_type":"gene"},{"created":"2020-05-14T16:40:30.588748+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM107 as ready","entity_name":"TMEM107","entity_type":"gene"},{"created":"2020-05-14T16:40:30.573781+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem107 has been classified as Green List (High Evidence).","entity_name":"TMEM107","entity_type":"gene"},{"created":"2020-05-14T16:40:26.351606+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM107 were changed from  to Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563); Joubert syndrome 29 617562","entity_name":"TMEM107","entity_type":"gene"},{"created":"2020-05-14T16:39:57.413901+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM107 were set to ","entity_name":"TMEM107","entity_type":"gene"},{"created":"2020-05-14T16:39:33.167593+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM107 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM107","entity_type":"gene"},{"created":"2020-05-14T16:39:03.325368+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM107: Rating: GREEN; Mode of pathogenicity: None; Publications: 26518474, 26595381, 26123494; Phenotypes: Meckel syndrome 13 (MIM#617562), Orofaciodigital syndrome XVI (MIM#617563), Joubert syndrome 29 617562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM107","entity_type":"gene"},{"created":"2020-05-14T13:06:14.077376+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.100","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-05-14T12:59:07.134512+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM107 as ready","entity_name":"TMEM107","entity_type":"gene"},{"created":"2020-05-14T12:59:07.125410+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem107 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM107","entity_type":"gene"},{"created":"2020-05-14T12:59:02.434633+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM107 as Amber List (moderate evidence)","entity_name":"TMEM107","entity_type":"gene"},{"created":"2020-05-14T12:59:02.424138+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem107 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM107","entity_type":"gene"},{"created":"2020-05-14T12:57:46.067327+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HYLS1 as ready","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-05-14T12:57:46.053901+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hyls1 has been classified as Amber List (Moderate Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-05-14T12:57:39.214253+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HYLS1 as Amber List (moderate evidence)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-05-14T12:57:39.200669+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hyls1 has been classified as Amber List (Moderate Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-05-14T12:55:43.315631+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TXNDC15 as ready","entity_name":"TXNDC15","entity_type":"gene"},{"created":"2020-05-14T12:55:43.306784+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: txndc15 has been classified as Green List (High Evidence).","entity_name":"TXNDC15","entity_type":"gene"},{"created":"2020-05-14T12:55:38.470688+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TXNDC15 as Green List (high evidence)","entity_name":"TXNDC15","entity_type":"gene"},{"created":"2020-05-14T12:55:38.461100+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: txndc15 has been classified as Green List (High Evidence).","entity_name":"TXNDC15","entity_type":"gene"},{"created":"2020-05-14T12:54:47.331130+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALPL as ready","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-05-14T12:54:47.309234+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpl has been classified as Green List (High Evidence).","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-05-14T12:54:44.652136+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALPL were changed from  to Hypophosphatasia, infantile MIM# 241500","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-05-14T12:54:15.433108+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALPL were set to ","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-05-14T12:53:45.946529+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-05-14T12:53:15.272897+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500388, 23688511; Phenotypes: Hypophosphatasia, infantile MIM# 241500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-05-14T12:51:53.735882+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2819","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALPL as ready","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-05-14T12:51:53.726182+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2819","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpl has been classified as Green List (High Evidence).","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-05-14T12:51:45.138489+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2819","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALPL were changed from  to Hypophosphatasia, adult 146300 (AD, AR); Hypophosphatasia, childhood 241510 AR; Hypophosphatasia, infantile 241500 AR; Odontohypophosphatasia 146300 AD, AR","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-05-14T12:51:24.461373+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2818","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALPL were set to ","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-05-14T12:51:03.022062+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2817","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: ALPL was changed from  to Other","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-05-14T12:50:42.918534+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2816","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALPL was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-05-14T12:49:38.504459+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MUC1 as ready","entity_name":"MUC1","entity_type":"gene"},{"created":"2020-05-14T12:49:38.500505+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Agree, some phenotypic overlap but not a ciliopathy and main variant type not currently readily tractable by NGS.","entity_name":"MUC1","entity_type":"gene"},{"created":"2020-05-14T12:49:38.468765+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: muc1 has been classified as Red List (Low Evidence).","entity_name":"MUC1","entity_type":"gene"},{"created":"2020-05-14T12:48:25.652027+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MUC1 were changed from  to Medullary cystic kidney disease 1 (MIM#174000)","entity_name":"MUC1","entity_type":"gene"},{"created":"2020-05-14T12:47:57.218987+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MUC1 were set to ","entity_name":"MUC1","entity_type":"gene"},{"created":"2020-05-14T11:59:22.531116+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MUC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MUC1","entity_type":"gene"}]}