{"count":220817,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1979","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1977","results":[{"created":"2020-01-17T12:48:26.390170+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.65","user_name":"Alison Yeung","item_type":"entity","text":"Gene: fam149b1 has been classified as Green List (High Evidence).","entity_name":"FAM149B1","entity_type":"gene"},{"created":"2020-01-17T12:48:14.760973+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.822","user_name":"Alison Yeung","item_type":"entity","text":"gene: FAM149B1 was added\ngene: FAM149B1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM149B1 were set to PMID: 30905400\nPhenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy\nReview for gene: FAM149B1 was set to GREEN\ngene: FAM149B1 was marked as current diagnostic\nAdded comment: Four unrelated families reported \nSources: Literature","entity_name":"FAM149B1","entity_type":"gene"},{"created":"2020-01-17T12:48:02.951681+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.65","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: FAM149B1 as Green List (high evidence)","entity_name":"FAM149B1","entity_type":"gene"},{"created":"2020-01-17T12:48:02.938087+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.65","user_name":"Alison Yeung","item_type":"entity","text":"Gene: fam149b1 has been classified as Green List (High Evidence).","entity_name":"FAM149B1","entity_type":"gene"},{"created":"2020-01-17T12:47:31.977443+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.64","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: FAM149B1 as Green List (high evidence)","entity_name":"FAM149B1","entity_type":"gene"},{"created":"2020-01-17T12:47:31.963307+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.64","user_name":"Alison Yeung","item_type":"entity","text":"Gene: fam149b1 has been classified as Green List (High Evidence).","entity_name":"FAM149B1","entity_type":"gene"},{"created":"2020-01-17T12:47:29.017374+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLD1 as ready","entity_name":"PLD1","entity_type":"gene"},{"created":"2020-01-17T12:47:29.003178+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pld1 has been classified as Amber List (Moderate Evidence).","entity_name":"PLD1","entity_type":"gene"},{"created":"2020-01-17T12:47:22.548427+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLD1 as Amber List (moderate evidence)","entity_name":"PLD1","entity_type":"gene"},{"created":"2020-01-17T12:47:22.535289+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pld1 has been classified as Amber List (Moderate Evidence).","entity_name":"PLD1","entity_type":"gene"},{"created":"2020-01-17T12:46:56.561483+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.64","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: FAM149B1 as Green List (high evidence)","entity_name":"FAM149B1","entity_type":"gene"},{"created":"2020-01-17T12:46:55.675149+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.64","user_name":"Alison Yeung","item_type":"entity","text":"Gene: fam149b1 has been classified as Green List (High Evidence).","entity_name":"FAM149B1","entity_type":"gene"},{"created":"2020-01-17T12:46:33.049180+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLD1 was added\ngene: PLD1 was added to Congenital Heart Defect. Sources: Expert list\nMode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLD1 were set to 27799408\nPhenotypes for gene: PLD1 were set to Cardiac valvular defect, developmental, MIM#\t212093\nReview for gene: PLD1 was set to AMBER\nAdded comment: Four individuals from two families reported. \nSources: Expert list","entity_name":"PLD1","entity_type":"gene"},{"created":"2020-01-17T12:45:29.836879+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.63","user_name":"Alison Yeung","item_type":"entity","text":"gene: FAM149B1 was added\ngene: FAM149B1 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM149B1 were set to PMID: 30905400\nPhenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy\nReview for gene: FAM149B1 was set to GREEN\ngene: FAM149B1 was marked as current diagnostic\nAdded comment: Four unrelated families reported \nSources: Literature","entity_name":"FAM149B1","entity_type":"gene"},{"created":"2020-01-17T12:43:31.802254+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NONO as ready","entity_name":"NONO","entity_type":"gene"},{"created":"2020-01-17T12:43:31.790798+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nono has been classified as Green List (High Evidence).","entity_name":"NONO","entity_type":"gene"},{"created":"2020-01-17T12:43:27.932166+11:00","panel_name":"Joubert syndrome and other cerebellar malformations","panel_id":129,"panel_version":"0.12","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: FAM149B1 as ready","entity_name":"FAM149B1","entity_type":"gene"},{"created":"2020-01-17T12:43:27.920595+11:00","panel_name":"Joubert syndrome and other cerebellar malformations","panel_id":129,"panel_version":"0.12","user_name":"Alison Yeung","item_type":"entity","text":"Gene: fam149b1 has been classified as Green List (High Evidence).","entity_name":"FAM149B1","entity_type":"gene"},{"created":"2020-01-17T12:43:27.076939+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NONO as Green List (high evidence)","entity_name":"NONO","entity_type":"gene"},{"created":"2020-01-17T12:43:27.065334+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nono has been classified as Green List (High Evidence).","entity_name":"NONO","entity_type":"gene"},{"created":"2020-01-17T12:43:13.694605+11:00","panel_name":"Joubert syndrome and other cerebellar malformations","panel_id":129,"panel_version":"0.12","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: FAM149B1 as Green List (high evidence)","entity_name":"FAM149B1","entity_type":"gene"},{"created":"2020-01-17T12:43:13.680715+11:00","panel_name":"Joubert syndrome and other cerebellar malformations","panel_id":129,"panel_version":"0.12","user_name":"Alison Yeung","item_type":"entity","text":"Gene: fam149b1 has been classified as Green List (High Evidence).","entity_name":"FAM149B1","entity_type":"gene"},{"created":"2020-01-17T12:42:34.285232+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NONO was added\ngene: NONO was added to Congenital Heart Defect. Sources: Expert list\nMode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: NONO were set to 26571461; 27329731; 27550220\nPhenotypes for gene: NONO were set to Mental retardation, X-linked, syndromic 34, MIM#\t300967\nReview for gene: NONO was set to GREEN\nAdded comment: Structural heart defects and cardiomyopathy are features of this syndromic disorder. \nSources: Expert list","entity_name":"NONO","entity_type":"gene"},{"created":"2020-01-17T12:42:14.819182+11:00","panel_name":"Joubert syndrome and other cerebellar malformations","panel_id":129,"panel_version":"0.11","user_name":"Alison Yeung","item_type":"entity","text":"gene: FAM149B1 was added\ngene: FAM149B1 was added to Joubert syndrome and other cerebellar malformations. Sources: Literature\nMode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM149B1 were set to PMID: 30905400\nPhenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy\nReview for gene: FAM149B1 was set to GREEN\ngene: FAM149B1 was marked as current diagnostic\nAdded comment: Four unrelated families reported \nSources: Literature","entity_name":"FAM149B1","entity_type":"gene"},{"created":"2020-01-17T12:38:45.550538+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYOCD as ready","entity_name":"MYOCD","entity_type":"gene"},{"created":"2020-01-17T12:38:45.538321+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myocd has been classified as Green List (High Evidence).","entity_name":"MYOCD","entity_type":"gene"},{"created":"2020-01-17T12:38:41.600033+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYOCD as Green List (high evidence)","entity_name":"MYOCD","entity_type":"gene"},{"created":"2020-01-17T12:38:41.588459+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myocd has been classified as Green List (High Evidence).","entity_name":"MYOCD","entity_type":"gene"},{"created":"2020-01-17T12:38:04.788709+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYOCD was added\ngene: MYOCD was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: MYOCD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYOCD were set to 31513549\nPhenotypes for gene: MYOCD were set to Megabladder; congenital heart disease; cardiomyopathy\nReview for gene: MYOCD was set to GREEN\nAdded comment: Four unrelated families. Mono allelic disease in males (megabladder), bi-allelic disease in males and females (megabladder and congenital heart disease). \nSources: Literature","entity_name":"MYOCD","entity_type":"gene"},{"created":"2020-01-17T12:25:08.778492+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.821","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: CARS as ready","entity_name":"CARS","entity_type":"gene"},{"created":"2020-01-17T12:25:08.766331+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.821","user_name":"Alison Yeung","item_type":"entity","text":"Gene: cars has been classified as Green List (High Evidence).","entity_name":"CARS","entity_type":"gene"},{"created":"2020-01-17T12:24:58.200052+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.821","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: CARS as Green List (high evidence)","entity_name":"CARS","entity_type":"gene"},{"created":"2020-01-17T12:24:58.188759+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.821","user_name":"Alison Yeung","item_type":"entity","text":"Gene: cars has been classified as Green List (High Evidence).","entity_name":"CARS","entity_type":"gene"},{"created":"2020-01-17T12:24:35.822186+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.820","user_name":"Alison Yeung","item_type":"entity","text":"gene: CARS was added\ngene: CARS was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CARS were set to PMID: 30824121\nPhenotypes for gene: CARS were set to Intellectual disability; microcephaly; brittle hair and nails\nAdded comment: Three reported unrelated families \nSources: Literature","entity_name":"CARS","entity_type":"gene"},{"created":"2020-01-17T12:23:38.903332+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1608","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: CARS as ready","entity_name":"CARS","entity_type":"gene"},{"created":"2020-01-17T12:23:38.891497+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1608","user_name":"Alison Yeung","item_type":"entity","text":"Gene: cars has been classified as Green List (High Evidence).","entity_name":"CARS","entity_type":"gene"},{"created":"2020-01-17T12:18:56.319001+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1608","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: CARS as Green List (high evidence)","entity_name":"CARS","entity_type":"gene"},{"created":"2020-01-17T12:18:56.307404+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1608","user_name":"Alison Yeung","item_type":"entity","text":"Gene: cars has been classified as Green List (High Evidence).","entity_name":"CARS","entity_type":"gene"},{"created":"2020-01-17T12:18:55.640724+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: WDPCP as ready","entity_name":"WDPCP","entity_type":"gene"},{"created":"2020-01-17T12:18:55.629285+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdpcp has been classified as Red List (Low Evidence).","entity_name":"WDPCP","entity_type":"gene"},{"created":"2020-01-17T12:18:46.906410+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WDPCP was added\ngene: WDPCP was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15, 615992; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085\nReview for gene: WDPCP was set to RED\nAdded comment: Ataxia not a reported phenotypic feature associated with this gene.` \nSources: Expert list","entity_name":"WDPCP","entity_type":"gene"},{"created":"2020-01-17T12:18:02.238462+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1607","user_name":"Alison Yeung","item_type":"entity","text":"gene: CARS was added\ngene: CARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CARS were set to PMID:  30824121\nPhenotypes for gene: CARS were set to Intellectual disability; microcephaly; brittle hair and nails\nReview for gene: CARS was set to GREEN\ngene: CARS was marked as current diagnostic\nAdded comment: Three reported unrelated families \nSources: Literature","entity_name":"CARS","entity_type":"gene"},{"created":"2020-01-17T12:14:51.987405+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"gene: VRK1 was added\ngene: VRK1 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A, 607596\nReview for gene: VRK1 was set to RED\nAdded comment: Ataxia can be a feature of the phenotype. Biallelic variants cause pontocerebellar hypoplasia and death before age 12, thus not a relevant gene for testing in an adult hospital. \nSources: Expert list","entity_name":"VRK1","entity_type":"gene"},{"created":"2020-01-17T12:10:13.757837+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.45","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TTI1 as ready","entity_name":"TTI1","entity_type":"gene"},{"created":"2020-01-17T12:10:13.745775+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.45","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tti1 has been classified as Red List (Low Evidence).","entity_name":"TTI1","entity_type":"gene"},{"created":"2020-01-17T12:10:07.576006+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.45","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TTI1 was added\ngene: TTI1 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: TTI1 was set to Unknown\nReview for gene: TTI1 was set to RED\nAdded comment: No reported association with ataxia. \nSources: Expert list","entity_name":"TTI1","entity_type":"gene"},{"created":"2020-01-17T11:55:21.830112+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TTC8 was added\ngene: TTC8 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8, 615985\nReview for gene: TTC8 was set to RED\nAdded comment: Ataxia is not a reported feature of this subtype of BBS \nSources: Expert list","entity_name":"TTC8","entity_type":"gene"},{"created":"2020-01-17T11:54:42.091494+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.819","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAPK8IP3 as ready","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-01-17T11:54:42.079990+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.819","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapk8ip3 has been classified as Green List (High Evidence).","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-01-17T11:54:31.878435+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.819","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAPK8IP3 as Green List (high evidence)","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-01-17T11:54:31.867165+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.819","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapk8ip3 has been classified as Green List (High Evidence).","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-01-17T11:54:12.883848+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.818","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAPK8IP3 was added\ngene: MAPK8IP3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAPK8IP3 were set to 30612693\nPhenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431\nReview for gene: MAPK8IP3 was set to GREEN\nAdded comment: >3 reported individuals and functional evidence in Caenorhabditis elegans \nSources: Literature","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-01-17T11:51:30.925496+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1606","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAPK8IP3 as ready","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-01-17T11:51:30.914043+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1606","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapk8ip3 has been classified as Green List (High Evidence).","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-01-17T11:51:25.832217+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1606","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAPK8IP3 as Green List (high evidence)","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-01-17T11:51:25.820538+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1606","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapk8ip3 has been classified as Green List (High Evidence).","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-01-17T11:41:55.160915+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-01-17T11:32:36.117560+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.43","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TSEN34 was added\ngene: TSEN34 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN34 were set to ?Pontocerebellar hypoplasia type 2C, 612390\nReview for gene: TSEN34 was set to RED\nAdded comment: No publications associated with ataxia, and ataxia is not a prominent feature of the condition. \nSources: Expert list","entity_name":"TSEN34","entity_type":"gene"},{"created":"2020-01-17T11:29:10.891421+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.42","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TSEN2 was added\ngene: TSEN2 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia type 2B, 612389\nReview for gene: TSEN2 was set to RED\nAdded comment: Ataxia is not a prominent feature of this phenotype. \nSources: Expert list","entity_name":"TSEN2","entity_type":"gene"},{"created":"2020-01-17T11:26:38.662673+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.41","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TRIM32 was added\ngene: TRIM32 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110; ?Bardet-Biedl syndrome 11, 615988\nReview for gene: TRIM32 was set to RED\nAdded comment: Ataxia is not a reported feature associated with this gene. \nSources: Expert list","entity_name":"TRIM32","entity_type":"gene"},{"created":"2020-01-17T11:22:09.757286+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.40","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SVBP as Green List (high evidence)","entity_name":"SVBP","entity_type":"gene"},{"created":"2020-01-17T11:22:09.745291+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.40","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: svbp has been classified as Green List (High Evidence).","entity_name":"SVBP","entity_type":"gene"},{"created":"2020-01-17T11:21:58.892604+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.39","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SVBP was added\ngene: SVBP was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569\nReview for gene: SVBP was set to GREEN\nAdded comment: Ataxia is a prominent feature of the phenotype for this condition. \nSources: Expert list","entity_name":"SVBP","entity_type":"gene"},{"created":"2020-01-17T11:16:38.212137+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SNAP25 as ready","entity_name":"SNAP25","entity_type":"gene"},{"created":"2020-01-17T11:16:38.200480+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: snap25 has been classified as Green List (High Evidence).","entity_name":"SNAP25","entity_type":"gene"},{"created":"2020-01-17T11:16:35.237513+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SNAP25 as Green List (high evidence)","entity_name":"SNAP25","entity_type":"gene"},{"created":"2020-01-17T11:16:35.226120+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: snap25 has been classified as Green List (High Evidence).","entity_name":"SNAP25","entity_type":"gene"},{"created":"2020-01-17T11:16:18.338542+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SNAP25 was added\ngene: SNAP25 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SNAP25 were set to 29491473; 25381298; 17283335\nPhenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18, 616330; cerebellar ataxia and seizures\nReview for gene: SNAP25 was set to GREEN\nAdded comment: Phenotype in 3 reported cases and mouse model includes ataxia as a feature. \nSources: Expert list","entity_name":"SNAP25","entity_type":"gene"},{"created":"2020-01-17T11:00:25.737692+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1605","user_name":"Alison Yeung","item_type":"entity","text":"gene: MAPK8IP3 was added\ngene: MAPK8IP3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAPK8IP3 were set to 30612693\nPhenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431\nReview for gene: MAPK8IP3 was set to GREEN\ngene: MAPK8IP3 was marked as current diagnostic\nAdded comment: >3 reported individuals and functional evidence in Caenorhabditis elegans \nSources: Literature","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-01-17T10:39:51.776706+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1604","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: NCAPG2 as ready","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2020-01-17T10:39:51.765592+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1604","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ncapg2 has been classified as Green List (High Evidence).","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2020-01-17T10:39:45.985550+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1604","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: NCAPG2 as Green List (high evidence)","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2020-01-17T10:39:45.973511+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1604","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ncapg2 has been classified as Green List (High Evidence).","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2020-01-17T10:39:11.405057+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1603","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: NCAPG2 as Green List (high evidence)","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2020-01-17T10:39:11.393883+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1603","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ncapg2 has been classified as Green List (High Evidence).","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2020-01-17T10:38:13.142590+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1602","user_name":"Alison Yeung","item_type":"entity","text":"gene: NCAPG2 was added\ngene: NCAPG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NCAPG2 were set to 30609410\nPhenotypes for gene: NCAPG2 were set to Khan-Khan-Katsanis syndrome, MIM# 618460\nReview for gene: NCAPG2 was set to GREEN\nAdded comment: Two families and functional evidence (zebrafish model). \nSources: Literature","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2020-01-17T10:36:39.916715+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SAR1B was added\ngene: SAR1B was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAR1B were set to Chylomicron retention disease, 246700\nReview for gene: SAR1B was set to RED\nAdded comment: Ataxia is not a reported prominent feature of the condition. Neurological symptoms are secondary to malabsorption. \nSources: Expert list","entity_name":"SAR1B","entity_type":"gene"},{"created":"2020-01-17T10:35:19.192043+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.817","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NCAPG2 as ready","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2020-01-17T10:35:19.178873+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.817","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ncapg2 has been classified as Green List (High Evidence).","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2020-01-17T10:35:10.370566+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.817","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NCAPG2 as Green List (high evidence)","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2020-01-17T10:35:10.357041+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.817","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ncapg2 has been classified as Green List (High Evidence).","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2020-01-17T10:34:53.057223+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.816","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NCAPG2 was added\ngene: NCAPG2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NCAPG2 were set to 30609410\nPhenotypes for gene: NCAPG2 were set to Khan-Khan-Katsanis syndrome, MIM#\t618460\nReview for gene: NCAPG2 was set to GREEN\nAdded comment: Two families and functional evidence (zebrafish model). \nSources: Literature","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2020-01-17T10:31:15.350229+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.815","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS9 as ready","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2020-01-17T10:31:15.337562+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.815","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts9 has been classified as Green List (High Evidence).","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2020-01-17T10:31:06.579744+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.815","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADAMTS9 as Green List (high evidence)","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2020-01-17T10:31:06.567770+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.815","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts9 has been classified as Green List (High Evidence).","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2020-01-17T10:30:49.661553+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.814","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAMTS9 was added\ngene: ADAMTS9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS9 were set to 30609407\nPhenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy\nReview for gene: ADAMTS9 was set to GREEN\nAdded comment: Two families reported with functional evidence \nSources: Literature","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2020-01-17T10:25:45.246891+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS9 as ready","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2020-01-17T10:25:45.234631+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts9 has been classified as Green List (High Evidence).","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2020-01-17T10:25:26.996986+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.98","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: ADAMTS9 as Green List (high evidence)","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2020-01-17T10:25:26.983216+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.98","user_name":"Alison Yeung","item_type":"entity","text":"Gene: adamts9 has been classified as Green List (High Evidence).","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2020-01-17T10:22:11.056926+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.35","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RARS2 was added\ngene: RARS2 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RARS2 were set to 31429931\nPhenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523; early onset cerebellar ataxia\nReview for gene: RARS2 was set to RED\nAdded comment: Ataxia is not a prominent feature of PCH. A homozygous putative pathogenic variant has been identified in one family with early onset cerebellar ataxia. \nSources: Expert list","entity_name":"RARS2","entity_type":"gene"},{"created":"2020-01-17T10:10:25.613969+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.95","user_name":"Alison Yeung","item_type":"entity","text":"gene: ADAMTS9 was added\ngene: ADAMTS9 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature\nMode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS9 were set to PMID:30609407\nPhenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy\nPenetrance for gene: ADAMTS9 were set to unknown\nReview for gene: ADAMTS9 was set to GREEN\ngene: ADAMTS9 was marked as current diagnostic\nAdded comment: Two families reported with functional evidence \nSources: Literature","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2020-01-17T10:09:33.301920+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.95","user_name":"Alison Yeung","item_type":"entity","text":"gene: ADAMTS9 was added\ngene: ADAMTS9 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature\nMode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS9 were set to PMID:30609407\nPhenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy\nPenetrance for gene: ADAMTS9 were set to unknown\nReview for gene: ADAMTS9 was set to GREEN\ngene: ADAMTS9 was marked as current diagnostic\nAdded comment: Two families reported with functional evidence \nSources: Literature","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2020-01-17T10:08:09.163003+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: KCNQ2 as Amber List (moderate evidence)","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-01-17T10:08:09.155522+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: kcnq2 has been classified as Amber List (Moderate Evidence).","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-01-17T10:07:57.318915+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.33","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22169383, 20962009, 10575255; Phenotypes: Early infantile epileptic encephalopathy 7, MIM#613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-01-17T10:02:18.856159+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.33","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:CAPN1 from the panel","entity_name":null,"entity_type":null},{"created":"2020-01-17T09:51:51.710410+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PNKD as Green List (high evidence)","entity_name":"PNKD","entity_type":"gene"},{"created":"2020-01-17T09:51:51.703187+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pnkd has been classified as Green List (High Evidence).","entity_name":"PNKD","entity_type":"gene"}]}