{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1148","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1146","results":[{"created":"2021-11-01T16:31:15.484332+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9581","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomc has been classified as Green List (High Evidence).","entity_name":"POMC","entity_type":"gene"},{"created":"2021-11-01T16:31:07.784325+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9581","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POMC were changed from  to Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734","entity_name":"POMC","entity_type":"gene"},{"created":"2021-11-01T16:30:50.794100+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9580","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POMC were set to ","entity_name":"POMC","entity_type":"gene"},{"created":"2021-11-01T16:29:16.641504+11:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MLIP as ready","entity_name":"MLIP","entity_type":"gene"},{"created":"2021-11-01T16:29:16.630031+11:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mlip has been classified as Green List (High Evidence).","entity_name":"MLIP","entity_type":"gene"},{"created":"2021-11-01T16:29:08.003219+11:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MLIP as Green List (high evidence)","entity_name":"MLIP","entity_type":"gene"},{"created":"2021-11-01T16:29:07.993598+11:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mlip has been classified as Green List (High Evidence).","entity_name":"MLIP","entity_type":"gene"},{"created":"2021-11-01T16:28:16.493753+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9579","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MLIP as ready","entity_name":"MLIP","entity_type":"gene"},{"created":"2021-11-01T16:28:16.483227+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9579","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mlip has been classified as Green List (High Evidence).","entity_name":"MLIP","entity_type":"gene"},{"created":"2021-11-01T16:28:08.454267+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9579","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MLIP were changed from 34581780 to MLIP-related myopathy with rhabdomyolysis","entity_name":"MLIP","entity_type":"gene"},{"created":"2021-11-01T16:27:46.775472+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9578","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MLIP were set to ","entity_name":"MLIP","entity_type":"gene"},{"created":"2021-11-01T16:27:25.026639+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9577","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MLIP as Green List (high evidence)","entity_name":"MLIP","entity_type":"gene"},{"created":"2021-11-01T16:27:25.015288+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9577","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mlip has been classified as Green List (High Evidence).","entity_name":"MLIP","entity_type":"gene"},{"created":"2021-11-01T16:26:38.562367+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STT3A as ready","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T16:26:38.550704+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stt3a has been classified as Green List (High Evidence).","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T16:26:34.884525+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STT3A as Green List (high evidence)","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T16:26:34.875897+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stt3a has been classified as Green List (High Evidence).","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T16:25:18.706067+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STT3A as ready","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T16:25:18.696326+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stt3a has been classified as Green List (High Evidence).","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T16:25:15.351689+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STT3A were set to PMID: 34653363; 23842455; 30701557; 28424003","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T16:24:50.017394+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STT3A as Green List (high evidence)","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T16:24:49.999602+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stt3a has been classified as Green List (High Evidence).","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T16:24:00.112685+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4240","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STT3A were set to PMID: 23842455; 30701557; 28424003","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T16:23:22.579914+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4239","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T16:22:35.521196+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STT3A were set to 23842455; 30701557; 28424003","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T16:22:03.083244+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T16:20:48.946201+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:20:11.155711+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.657","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:19:33.206403+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4238","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KIAA0391: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:17:27.861026+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4238","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIAA0391 as ready","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:17:27.850465+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4238","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0391 has been classified as Amber List (Moderate Evidence).","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:17:22.911488+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4238","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability to Hearing loss, intellectual disability; Mitochondrial disorder","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:16:39.720870+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4237","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIAA0391 as Amber List (moderate evidence)","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:16:39.710519+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4237","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0391 has been classified as Amber List (Moderate Evidence).","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:15:30.359949+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIAA0391 as ready","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:15:30.350916+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0391 has been classified as Green List (High Evidence).","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:15:27.477729+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability to Hearing loss, intellectual disability; Mitochondrial disorder","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:14:53.086636+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIAA0391 as Green List (high evidence)","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:14:53.076611+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0391 has been classified as Green List (High Evidence).","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:14:23.344523+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.657","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIAA0391 as ready","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:14:23.333564+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.657","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0391 has been classified as Green List (High Evidence).","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:14:18.018874+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.657","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability to Hearing loss, intellectual disability; Mitochondrial disorder","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:12:55.349237+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.656","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIAA0391 as Green List (high evidence)","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:12:55.340247+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.656","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0391 has been classified as Green List (High Evidence).","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:11:53.804890+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPRED2 as ready","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:11:53.794061+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spred2 has been classified as Green List (High Evidence).","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:11:40.712127+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:11:29.494368+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPRED2 as Green List (high evidence)","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:11:29.485512+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spred2 has been classified as Green List (High Evidence).","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:11:05.944720+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4236","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPRED2 as ready","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:11:05.932385+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4236","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spred2 has been classified as Green List (High Evidence).","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:11:01.324448+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4236","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:09:57.929055+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4235","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPRED2 as Green List (high evidence)","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:09:57.919979+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4235","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spred2 has been classified as Green List (High Evidence).","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:09:04.043503+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPRED2 as ready","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:09:04.033680+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spred2 has been classified as Green List (High Evidence).","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:09:01.006198+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:08:21.923067+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPRED2 as Green List (high evidence)","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:08:21.912270+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spred2 has been classified as Green List (High Evidence).","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:07:48.688196+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9576","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:07:17.944343+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPRED2 as ready","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:07:17.932833+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spred2 has been classified as Green List (High Evidence).","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:07:15.318145+11:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.83","user_name":"Michelle Torres","item_type":"entity","text":"gene: MLIP was added\ngene: MLIP was added to Rhabdomyolysis. Sources: Literature\nMode of inheritance for gene: MLIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MLIP were set to 34581780\nPhenotypes for gene: MLIP were set to MLIP-related myopathy with rhabdomyolysis\nReview for gene: MLIP was set to GREEN\nAdded comment: PMID: 34581780: 7 individuals with 6 families with truncating (one splice that also resulted in a frameshift variant) biallelic variants (used NM_1281746).\r\n\r\nIn 3 patients patients’ skeletal muscle, these variants were shown to cause reduction overall RNA expression levels of the predominant MLIP isoform.\r\n\r\nPatients presented with a consistent phenotype characterized by mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and persistent basal elevated serum creatine kinase levels.\r\nSources: Literature \nSources: Literature","entity_name":"MLIP","entity_type":"gene"},{"created":"2021-11-01T16:07:15.247846+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:06:42.232956+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPRED2 as Green List (high evidence)","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:06:42.221996+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spred2 has been classified as Green List (High Evidence).","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T16:05:58.793343+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPATA5L1 as ready","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T16:05:58.783069+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata5l1 has been classified as Green List (High Evidence).","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T16:05:55.005145+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPATA5L1 as Green List (high evidence)","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T16:05:54.991664+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata5l1 has been classified as Green List (High Evidence).","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T16:05:13.483387+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9575","user_name":"Michelle Torres","item_type":"entity","text":"edited their review of gene: MLIP: Changed publications: 34581780; Changed phenotypes: MLIP-related myopathy with rhabdomyolysis","entity_name":"MLIP","entity_type":"gene"},{"created":"2021-11-01T16:02:29.484134+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4234","user_name":"Lucy Spencer","item_type":"entity","text":"gene: KIAA0391 was added\ngene: KIAA0391 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0391 were set to PMID: 34715011\nPhenotypes for gene: KIAA0391 were set to Hearing loss, intellectual disability\nReview for gene: KIAA0391 was set to RED\nAdded comment: Sources: Literature","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:01:29.759366+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.655","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34715011; Phenotypes: Hearing loss, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T16:00:47.829597+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4234","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPATA5L1 as ready","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T16:00:47.817398+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4234","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata5l1 has been classified as Green List (High Evidence).","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T16:00:30.652418+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4234","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPATA5L1 as Green List (high evidence)","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T16:00:30.641015+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4234","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata5l1 has been classified as Green List (High Evidence).","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T16:00:01.847727+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.95","user_name":"Lucy Spencer","item_type":"entity","text":"gene: KIAA0391 was added\ngene: KIAA0391 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0391 were set to PMID: 34715011\nPhenotypes for gene: KIAA0391 were set to Hearing loss, intellectual disability\nReview for gene: KIAA0391 was set to GREEN\nAdded comment: Sources: Literature","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T15:57:21.227985+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.655","user_name":"Lucy Spencer","item_type":"entity","text":"gene: KIAA0391 was added\ngene: KIAA0391 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0391 were set to PMID: 34715011\nPhenotypes for gene: KIAA0391 were set to Hearing loss, intellectual disability","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T15:56:47.953195+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9575","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA1A as ready","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2021-11-01T15:56:47.936441+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9575","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1a has been classified as Green List (High Evidence).","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2021-11-01T15:56:30.976709+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9575","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNA1A were changed from  to Episodic ataxia, type 2 MIM#108500","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2021-11-01T15:56:10.364204+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9574","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CACNA1A were set to ","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2021-11-01T15:55:51.996320+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9573","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CACNA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2021-11-01T15:55:05.236461+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9572","user_name":"Lucy Spencer","item_type":"entity","text":"edited their review of gene: KIAA0391: Changed rating: GREEN","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T15:54:34.423588+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPATA5L1 as ready","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:54:34.413692+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata5l1 has been classified as Green List (High Evidence).","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:53:51.198356+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9572","user_name":"Anna Ritchie","item_type":"entity","text":"reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34267336; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2021-11-01T15:53:46.650409+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9572","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIAA0391: Changed rating: GREEN","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T15:53:14.942850+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9572","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIAA0391 as ready","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T15:53:14.935437+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9572","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Note gene is referred to as PRORP in the manuscript, but HGNC approved name is KIAA0391.","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T15:53:14.881663+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9572","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0391 has been classified as Green List (High Evidence).","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T15:52:39.630409+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9572","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIAA0391 were changed from  to Mitochondrial disorder","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T15:51:11.323728+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9571","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIAA0391 as Green List (high evidence)","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T15:51:11.310728+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9571","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0391 has been classified as Green List (High Evidence).","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T15:50:52.605451+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.133","user_name":"Dean Phelan","item_type":"entity","text":"gene: SPRED2 was added\ngene: SPRED2 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPRED2 were set to PMID: 34626534\nPhenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt\nReview for gene: SPRED2 was set to GREEN\nAdded comment: PMID: 34626534\r\nHomozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour. The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome. \nSources: Literature","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T15:49:23.873364+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPATA5L1 as Green List (high evidence)","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:49:23.862523+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata5l1 has been classified as Green List (High Evidence).","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:49:17.678540+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.196","user_name":"Paul De Fazio","item_type":"entity","text":"gene: SPATA5L1 was added\ngene: SPATA5L1 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA5L1 were set to 34626583\nPhenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss\nReview for gene: SPATA5L1 was set to GREEN\ngene: SPATA5L1 was marked as current diagnostic\nAdded comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.\r\n\r\nMost individuals presented with spasticity (68%), dystonia (60%), or a combination of the two (52%). \nSources: Literature","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:49:08.070003+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.10","user_name":"Dean Phelan","item_type":"entity","text":"gene: SPRED2 was added\ngene: SPRED2 was added to Growth failure. Sources: Literature\nMode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPRED2 were set to PMID: 34626534\nPhenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt\nReview for gene: SPRED2 was set to GREEN\nAdded comment: PMID: 34626534\r\nHomozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour. The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome. \nSources: Literature","entity_name":"SPRED2","entity_type":"gene"}]}