{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1786","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1784","results":[{"created":"2020-05-27T15:31:02.019098+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2909","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: GPR143: Rating: GREEN; Mode of pathogenicity: None; Publications: 30555098, 29761529; Phenotypes: congenital nystagmus 6, MIM 300814, ty[e I ocular albinism, Nettleship-Falls type, MIM 300500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"GPR143","entity_type":"gene"},{"created":"2020-05-27T15:30:03.927210+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ELP1 as Green List (high evidence)","entity_name":"ELP1","entity_type":"gene"},{"created":"2020-05-27T15:30:03.913765+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: elp1 has been classified as Green List (High Evidence).","entity_name":"ELP1","entity_type":"gene"},{"created":"2020-05-27T15:13:22.332953+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ELP1 was added\ngene: ELP1 was added to Cancer Predisposition_Paediatric. Sources: Literature\nMode of inheritance for gene: ELP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ELP1 were set to 32296180\nPhenotypes for gene: ELP1 were set to Paediatric medulloblastoma sonic hedgehog subtype\nReview for gene: ELP1 was set to GREEN\nAdded comment: Medulloblastoma predisposition: association identified for heterozygous ELP1 loss of function variants with paediatric medulloblastoma with exome-wide significance, specifically associated with the sonic hedgehog (SHH) subtype. Association was validated in additional paediatric cohorts. Monoallelic germline loss of function variants identified in 29/202 paediatric medulloblastoma SHH cases (absent from adult patients) and loss of heterozygosity of the ELP1 wild-type allele was present in all tumours. Segregation was reported in one family and expected in another. \nSources: Literature","entity_name":"ELP1","entity_type":"gene"},{"created":"2020-05-27T15:09:17.088970+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2909","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11179008, 32296180; Phenotypes: Dysautonomia, familial MIM#223900, paediatric medulloblastoma; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ELP1","entity_type":"gene"},{"created":"2020-05-27T15:00:26.791793+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2909","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNRNP200 as ready","entity_name":"SNRNP200","entity_type":"gene"},{"created":"2020-05-27T15:00:26.780075+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2909","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snrnp200 has been classified as Green List (High Evidence).","entity_name":"SNRNP200","entity_type":"gene"},{"created":"2020-05-27T15:00:18.769410+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2909","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNRNP200 were changed from  to Retinitis pigmentosa 33 (MIM# 610359)","entity_name":"SNRNP200","entity_type":"gene"},{"created":"2020-05-27T14:59:57.933444+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2908","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SNRNP200 were set to ","entity_name":"SNRNP200","entity_type":"gene"},{"created":"2020-05-27T14:58:51.700370+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2907","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SNRNP200 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SNRNP200","entity_type":"gene"},{"created":"2020-05-27T14:58:04.889449+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PKD1L1 as ready","entity_name":"PKD1L1","entity_type":"gene"},{"created":"2020-05-27T14:58:04.878194+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pkd1l1 has been classified as Amber List (Moderate Evidence).","entity_name":"PKD1L1","entity_type":"gene"},{"created":"2020-05-27T14:58:00.277432+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PKD1L1 were set to ","entity_name":"PKD1L1","entity_type":"gene"},{"created":"2020-05-27T14:57:36.401131+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PKD1L1 were changed from  to Heterotaxy, visceral, 8, autosomal (MIM#617205)","entity_name":"PKD1L1","entity_type":"gene"},{"created":"2020-05-27T14:56:33.098314+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PKD1L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PKD1L1","entity_type":"gene"},{"created":"2020-05-27T14:55:42.980789+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PKD1L1 as Amber List (moderate evidence)","entity_name":"PKD1L1","entity_type":"gene"},{"created":"2020-05-27T14:55:42.971856+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pkd1l1 has been classified as Amber List (Moderate Evidence).","entity_name":"PKD1L1","entity_type":"gene"},{"created":"2020-05-27T14:00:45.840057+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPGR as ready","entity_name":"RPGR","entity_type":"gene"},{"created":"2020-05-27T14:00:45.830841+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpgr has been classified as Red List (Low Evidence).","entity_name":"RPGR","entity_type":"gene"},{"created":"2020-05-27T14:00:42.506665+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPGR were changed from  to Retinitis pigmentosa 3 (MIM#300029)","entity_name":"RPGR","entity_type":"gene"},{"created":"2020-05-27T14:00:11.353550+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPGR were set to ","entity_name":"RPGR","entity_type":"gene"},{"created":"2020-05-27T13:59:40.578824+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RPGR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RPGR","entity_type":"gene"},{"created":"2020-05-27T13:59:16.956231+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPGR as Red List (low evidence)","entity_name":"RPGR","entity_type":"gene"},{"created":"2020-05-27T13:59:16.943086+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpgr has been classified as Red List (Low Evidence).","entity_name":"RPGR","entity_type":"gene"},{"created":"2020-05-27T13:58:30.575074+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSPH1 as ready","entity_name":"RSPH1","entity_type":"gene"},{"created":"2020-05-27T13:58:30.552706+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph1 has been classified as Red List (Low Evidence).","entity_name":"RSPH1","entity_type":"gene"},{"created":"2020-05-27T13:58:27.597061+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RSPH1 were changed from  to Ciliary dyskinesia, primary, 24 (MIM#615481)","entity_name":"RSPH1","entity_type":"gene"},{"created":"2020-05-27T13:57:57.760179+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPH1 were set to ","entity_name":"RSPH1","entity_type":"gene"},{"created":"2020-05-27T13:57:24.825348+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RSPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RSPH1","entity_type":"gene"},{"created":"2020-05-27T13:56:56.972920+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RSPH1 as Red List (low evidence)","entity_name":"RSPH1","entity_type":"gene"},{"created":"2020-05-27T13:56:56.963520+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph1 has been classified as Red List (Low Evidence).","entity_name":"RSPH1","entity_type":"gene"},{"created":"2020-05-27T13:55:59.812373+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSPH1 as ready","entity_name":"RSPH1","entity_type":"gene"},{"created":"2020-05-27T13:55:59.803478+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph1 has been classified as Green List (High Evidence).","entity_name":"RSPH1","entity_type":"gene"},{"created":"2020-05-27T13:55:17.851314+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RSPH1 were changed from  to Ciliary dyskinesia, primary, 24 (MIM#615481)","entity_name":"RSPH1","entity_type":"gene"},{"created":"2020-05-27T13:51:24.753223+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPH1 were set to ","entity_name":"RSPH1","entity_type":"gene"},{"created":"2020-05-27T13:50:58.799410+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RSPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RSPH1","entity_type":"gene"},{"created":"2020-05-27T13:50:09.943987+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSPH3 as ready","entity_name":"RSPH3","entity_type":"gene"},{"created":"2020-05-27T13:50:09.931488+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph3 has been classified as Red List (Low Evidence).","entity_name":"RSPH3","entity_type":"gene"},{"created":"2020-05-27T13:48:10.678775+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RSPH3 were changed from  to Ciliary dyskinesia, primary, 32 (MIM#616481)","entity_name":"RSPH3","entity_type":"gene"},{"created":"2020-05-27T13:47:37.273516+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPH3 were set to ","entity_name":"RSPH3","entity_type":"gene"},{"created":"2020-05-27T13:47:05.838716+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RSPH3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RSPH3","entity_type":"gene"},{"created":"2020-05-27T13:46:38.153039+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RSPH3 as Red List (low evidence)","entity_name":"RSPH3","entity_type":"gene"},{"created":"2020-05-27T13:46:38.144061+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph3 has been classified as Red List (Low Evidence).","entity_name":"RSPH3","entity_type":"gene"},{"created":"2020-05-27T13:43:49.947119+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSPH4A as ready","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2020-05-27T13:43:49.923528+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph4a has been classified as Red List (Low Evidence).","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2020-05-27T13:43:47.549227+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RSPH4A were changed from  to Ciliary dyskinesia, primary, 11 (MIM#612649)","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2020-05-27T13:43:17.711747+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPH4A were set to ","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2020-05-27T13:42:55.781999+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RSPH4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2020-05-27T13:41:48.628376+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RSPH4A as Red List (low evidence)","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2020-05-27T13:41:48.619728+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph4a has been classified as Red List (Low Evidence).","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2020-05-27T13:39:58.284842+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSPH9 as ready","entity_name":"RSPH9","entity_type":"gene"},{"created":"2020-05-27T13:39:58.275779+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph9 has been classified as Red List (Low Evidence).","entity_name":"RSPH9","entity_type":"gene"},{"created":"2020-05-27T13:39:51.466074+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RSPH9 were changed from  to Ciliary dyskinesia, primary, 12 (MIM#612650)","entity_name":"RSPH9","entity_type":"gene"},{"created":"2020-05-27T13:39:28.424035+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPH9 were set to ","entity_name":"RSPH9","entity_type":"gene"},{"created":"2020-05-27T13:35:57.582479+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RSPH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RSPH9","entity_type":"gene"},{"created":"2020-05-27T13:35:31.324226+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RSPH9 as Red List (low evidence)","entity_name":"RSPH9","entity_type":"gene"},{"created":"2020-05-27T13:35:31.314472+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph9 has been classified as Red List (Low Evidence).","entity_name":"RSPH9","entity_type":"gene"},{"created":"2020-05-27T13:32:07.663549+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RUNX2 as ready","entity_name":"RUNX2","entity_type":"gene"},{"created":"2020-05-27T13:32:07.651127+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: runx2 has been classified as Green List (High Evidence).","entity_name":"RUNX2","entity_type":"gene"},{"created":"2020-05-27T13:31:50.611676+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MMP9 as ready","entity_name":"MMP9","entity_type":"gene"},{"created":"2020-05-27T13:31:50.597563+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmp9 has been classified as Green List (High Evidence).","entity_name":"MMP9","entity_type":"gene"},{"created":"2020-05-27T13:27:51.060373+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SRP54 as ready","entity_name":"SRP54","entity_type":"gene"},{"created":"2020-05-27T13:27:51.047389+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srp54 has been classified as Green List (High Evidence).","entity_name":"SRP54","entity_type":"gene"},{"created":"2020-05-27T13:27:25.316105+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJC21 as ready","entity_name":"DNAJC21","entity_type":"gene"},{"created":"2020-05-27T13:27:25.307232+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc21 has been classified as Green List (High Evidence).","entity_name":"DNAJC21","entity_type":"gene"},{"created":"2020-05-27T13:26:58.627514+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EFL1 as ready","entity_name":"EFL1","entity_type":"gene"},{"created":"2020-05-27T13:26:58.618396+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: efl1 has been classified as Green List (High Evidence).","entity_name":"EFL1","entity_type":"gene"},{"created":"2020-05-27T12:58:26.336307+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2906","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: PMID: 31260034; more than 20 families reported with either de novo or AD with RP or retinal dystrophy (RD)\r\n\r\nPMID: 29320387; p.(Arg1090Gln) in a proband with RP from a consag family with unaffected het parents and sibling \r\n\r\nPMID: 23847139; p.(Pro1045Thr) homozygous in a patient with Leber congenital amaurosis (LCA)  \r\n\r\nPMID: 31260034: p.(Arg545His) homozygous in a patient with RP with asymptomatic het parents and sister \r\n\r\nPMID: 27735924: in a patient with RP who is cHet for p.(Pro105Thr) in SNRNP200  and a 1.4Mb deletion spanning SNRNP200. Father is a carrier of the missense and is unaffected and the deletion was de novo; to: PMID: 31260034; more than 20 families reported with either de novo or AD with RP or retinal dystrophy (RD)\r\n\r\nPMID: 29320387; p.(Arg1090Gln) in a proband with RP from a consag family with unaffected het parents and sibling \r\n\r\nPMID: 23847139; p.(Pro1045Thr) homozygous in a patient with Leber congenital amaurosis (LCA)  \r\n\r\nPMID: 31260034: p.(Arg545His) homozygous in a patient with RP with asymptomatic het parents and sister \r\n\r\nPMID: 27735924: in a patient with RP who is cHet for p.(Pro105Thr) in SNRNP200  and a 1.1Mb deletion spanning SNRNP200. Father is a carrier of the missense and is unaffected and the deletion was de novo","entity_name":"SNRNP200","entity_type":"gene"},{"created":"2020-05-27T12:58:04.476835+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2906","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: PMID: 31260034; more than 20 families reported with either de novo or AD with RP or retinal dystrophy (RD)\r\n\r\nPMID: 29320387; p.(Arg1090Gln) in a proband with RP from a consag family with unaffected het parents and sibling \r\n\r\nPMID: 23847139; p.(Pro1045Thr) homozygous in a patient with Leber congenital amaurosis (LCA)  \r\n\r\nPMID: 31260034: p.(Arg545His) homozygous in a patient with RP with asymptomatic het parents and sister \r\n\r\nPMID: 27735924: in a patient with RP who is cHet for p.(Pro105Thr) in SNRNP200  and a 1.1Mb deletion spanning SNRNP200. Father is a carrier of the missense and is unaffected and the deletion was de novo; to: PMID: 31260034; more than 20 families reported with either de novo or AD with RP or retinal dystrophy (RD)\r\n\r\nPMID: 29320387; p.(Arg1090Gln) in a proband with RP from a consag family with unaffected het parents and sibling \r\n\r\nPMID: 23847139; p.(Pro1045Thr) homozygous in a patient with Leber congenital amaurosis (LCA)  \r\n\r\nPMID: 31260034: p.(Arg545His) homozygous in a patient with RP with asymptomatic het parents and sister \r\n\r\nPMID: 27735924: in a patient with RP who is cHet for p.(Pro105Thr) in SNRNP200  and a 1.4Mb deletion spanning SNRNP200. Father is a carrier of the missense and is unaffected and the deletion was de novo","entity_name":"SNRNP200","entity_type":"gene"},{"created":"2020-05-27T12:51:09.673712+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2906","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: SNRNP200: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31260034, 29320387, 23847139, 27735924; Phenotypes: Retinitis pigmentosa 33 (MIM# 610359); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SNRNP200","entity_type":"gene"},{"created":"2020-05-27T12:25:56.824113+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.51","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: PKD1L1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27616478, 30664273, 20080492; Phenotypes: Heterotaxy, visceral, 8, autosomal (MIM#617205); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PKD1L1","entity_type":"gene"},{"created":"2020-05-27T10:56:12.519724+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.51","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: RPGR: Rating: RED; Mode of pathogenicity: None; Publications: 26093275, 31775781; Phenotypes: Retinitis pigmentosa 3 (MIM#300029); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"RPGR","entity_type":"gene"},{"created":"2020-05-27T10:35:51.879533+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.51","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: RSPH1: Rating: RED; Mode of pathogenicity: None; Publications: 23993197; Phenotypes: Ciliary dyskinesia, primary, 24 (MIM#615481); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RSPH1","entity_type":"gene"},{"created":"2020-05-27T10:31:24.227072+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.100","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993197; Phenotypes: Ciliary dyskinesia, primary, 24 (MIM#615481); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RSPH1","entity_type":"gene"},{"created":"2020-05-27T10:12:14.325860+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.51","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: RSPH3: Rating: RED; Mode of pathogenicity: None; Publications: 26073779; Phenotypes: Ciliary dyskinesia, primary, 32 (MIM#616481); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RSPH3","entity_type":"gene"},{"created":"2020-05-27T09:57:41.057791+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.51","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: RSPH4A: Rating: RED; Mode of pathogenicity: None; Publications: 25789548; Phenotypes: Ciliary dyskinesia, primary, 11 (MIM#612649); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2020-05-27T09:51:41.685240+10:00","panel_name":"Brugada syndrome","panel_id":60,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCN3B were changed from Brugada syndrome 7 MIM#613120 to Brugada syndrome 7 MIM#613120","entity_name":"SCN3B","entity_type":"gene"},{"created":"2020-05-27T09:51:38.315361+10:00","panel_name":"Brugada syndrome","panel_id":60,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN3B as ready","entity_name":"SCN3B","entity_type":"gene"},{"created":"2020-05-27T09:51:38.300312+10:00","panel_name":"Brugada syndrome","panel_id":60,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn3b has been classified as Red List (Low Evidence).","entity_name":"SCN3B","entity_type":"gene"},{"created":"2020-05-27T09:51:20.828775+10:00","panel_name":"Brugada syndrome","panel_id":60,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCN3B were changed from  to Brugada syndrome 7 MIM#613120","entity_name":"SCN3B","entity_type":"gene"},{"created":"2020-05-27T09:50:56.648983+10:00","panel_name":"Brugada syndrome","panel_id":60,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCN3B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SCN3B","entity_type":"gene"},{"created":"2020-05-27T09:50:29.814862+10:00","panel_name":"Brugada syndrome","panel_id":60,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCN3B as Red List (low evidence)","entity_name":"SCN3B","entity_type":"gene"},{"created":"2020-05-27T09:50:29.805387+10:00","panel_name":"Brugada syndrome","panel_id":60,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn3b has been classified as Red List (Low Evidence).","entity_name":"SCN3B","entity_type":"gene"},{"created":"2020-05-27T09:50:02.253408+10:00","panel_name":"Brugada syndrome","panel_id":60,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: SCN3B.","entity_name":"SCN3B","entity_type":"gene"},{"created":"2020-05-27T09:44:16.460544+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.51","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: RSPH9: Rating: RED; Mode of pathogenicity: None; Publications: 19200523; Phenotypes: Ciliary dyskinesia, primary, 12 (MIM#612650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RSPH9","entity_type":"gene"},{"created":"2020-05-26T22:50:39.256684+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Cleidocranial dysplasia 119600 for gene: RUNX2","entity_name":"RUNX2","entity_type":"gene"},{"created":"2020-05-26T22:50:34.259608+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes 613073METAPHYSEAL ANADYSPLASIA 2 for gene: MMP9\nPublications for gene MMP9 were updated from 28342220; 19615667 to 28342220; 19615667","entity_name":"MMP9","entity_type":"gene"},{"created":"2020-05-26T22:50:33.560392+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400 for gene: MMP13","entity_name":"MMP13","entity_type":"gene"},{"created":"2020-05-26T22:50:32.850504+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 for gene: SRP54","entity_name":"SRP54","entity_type":"gene"},{"created":"2020-05-26T22:50:32.148685+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes BMFS3; 617052 BONE MARROW FAILURE SYNDROME 3 for gene: DNAJC21","entity_name":"DNAJC21","entity_type":"gene"},{"created":"2020-05-26T22:50:31.361773+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes 617941 SHWACHMAN-DIAMOND SYNDROME 2; SDS2 for gene: EFL1","entity_name":"EFL1","entity_type":"gene"},{"created":"2020-05-26T22:50:30.569894+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes Shwachman-Diamond syndrome\t260400; Shwachman-Diamond syndrome 260400 for gene: SBDS","entity_name":"SBDS","entity_type":"gene"},{"created":"2020-05-26T22:50:29.837828+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes Failure of tooth eruption, primary 125350; Eiken syndrome 600002; Metaphyseal chondrodysplasia, Murk Jansen type 156400; Chondrodysplasia, Blomstrand type 215045 for gene: PTH1R","entity_name":"PTH1R","entity_type":"gene"},{"created":"2020-05-26T22:50:29.132125+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095 for gene: RMRP","entity_name":"RMRP","entity_type":"gene"},{"created":"2020-05-26T22:50:28.255395+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes Treacher Collins syndrome 2 613717 for gene: POLR1D","entity_name":"POLR1D","entity_type":"gene"},{"created":"2020-05-26T22:50:27.552390+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes Metaphyseal chondrodysplasia, Schmid type 156500 for gene: COL10A1","entity_name":"COL10A1","entity_type":"gene"},{"created":"2020-05-26T22:48:24.757494+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Cleidocranial dysplasia 119600 for gene: RUNX2","entity_name":"RUNX2","entity_type":"gene"},{"created":"2020-05-26T22:48:19.649989+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes 613073METAPHYSEAL ANADYSPLASIA 2 for gene: MMP9\nPublications for gene MMP9 were updated from 19615667; 28342220 to 28342220; 19615667","entity_name":"MMP9","entity_type":"gene"},{"created":"2020-05-26T22:48:18.848568+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400 for gene: MMP13","entity_name":"MMP13","entity_type":"gene"},{"created":"2020-05-26T22:48:18.051617+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 for gene: SRP54","entity_name":"SRP54","entity_type":"gene"}]}