{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1855","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1853","results":[{"created":"2020-04-17T18:54:22.799629+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2339","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAG1 as ready","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-04-17T18:54:22.791147+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2339","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dag1 has been classified as Green List (High Evidence).","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-04-17T18:52:35.404354+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2339","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DAG1 were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Walker-Warburg syndrome and tectocerebellar dysgraphia","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-04-17T18:52:15.966213+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2338","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DAG1 were set to ","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-04-17T18:52:01.533024+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2337","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-04-17T18:51:09.359104+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.657","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPYD as ready","entity_name":"DPYD","entity_type":"gene"},{"created":"2020-04-17T18:51:09.349624+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.657","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpyd has been classified as Green List (High Evidence).","entity_name":"DPYD","entity_type":"gene"},{"created":"2020-04-17T18:51:05.788664+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.657","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPYD were changed from  to Dihydropyrimidine dehydrogenase deficiency, MIM# 274270","entity_name":"DPYD","entity_type":"gene"},{"created":"2020-04-17T18:50:36.423555+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.656","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPYD were set to ","entity_name":"DPYD","entity_type":"gene"},{"created":"2020-04-17T18:50:16.817614+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.656","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPYD","entity_type":"gene"},{"created":"2020-04-17T18:49:50.400462+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.655","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: DPYD.","entity_name":"DPYD","entity_type":"gene"},{"created":"2020-04-17T18:49:41.090908+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.655","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPYD: Rating: GREEN; Mode of pathogenicity: None; Publications: 19296131, 10071185; Phenotypes: Dihydropyrimidine dehydrogenase deficiency, MIM# 274270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPYD","entity_type":"gene"},{"created":"2020-04-17T18:45:03.734571+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2336","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPYD as ready","entity_name":"DPYD","entity_type":"gene"},{"created":"2020-04-17T18:45:03.725913+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2336","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpyd has been classified as Green List (High Evidence).","entity_name":"DPYD","entity_type":"gene"},{"created":"2020-04-17T18:44:54.137745+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2336","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPYD were changed from  to 5-fluorouracil toxicity 274270; Dihydropyrimidine dehydrogenase deficiency 274270","entity_name":"DPYD","entity_type":"gene"},{"created":"2020-04-17T18:44:39.709178+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2335","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPYD were set to ","entity_name":"DPYD","entity_type":"gene"},{"created":"2020-04-17T18:44:25.490386+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2334","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPYD","entity_type":"gene"},{"created":"2020-04-17T18:43:20.001109+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2333","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MFSD8 as ready","entity_name":"MFSD8","entity_type":"gene"},{"created":"2020-04-17T18:43:19.987707+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2333","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mfsd8 has been classified as Green List (High Evidence).","entity_name":"MFSD8","entity_type":"gene"},{"created":"2020-04-17T18:40:10.053543+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2333","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MFSD8 were changed from  to Ceroid lipofuscinosis, neuronal, 7 610951; Macular dystrophy with central cone involvement 616170","entity_name":"MFSD8","entity_type":"gene"},{"created":"2020-04-17T18:39:55.219227+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2332","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MFSD8 were set to ","entity_name":"MFSD8","entity_type":"gene"},{"created":"2020-04-17T18:39:36.500884+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2331","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MFSD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MFSD8","entity_type":"gene"},{"created":"2020-04-17T18:38:43.847872+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2330","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NF1 as ready","entity_name":"NF1","entity_type":"gene"},{"created":"2020-04-17T18:38:43.834365+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2330","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nf1 has been classified as Green List (High Evidence).","entity_name":"NF1","entity_type":"gene"},{"created":"2020-04-17T18:38:35.922235+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2330","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NF1 were changed from  to Leukemia, juvenile myelomonocytic 607785; Neurofibromatosis, familial spinal 162210; Neurofibromatosis, type 1 162200; Neurofibromatosis-Noonan syndrome 601321; Watson syndrome 193520","entity_name":"NF1","entity_type":"gene"},{"created":"2020-04-17T18:38:16.010978+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2329","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NF1","entity_type":"gene"},{"created":"2020-04-17T18:37:27.156286+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TECTA as ready","entity_name":"TECTA","entity_type":"gene"},{"created":"2020-04-17T18:37:27.143090+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tecta has been classified as Green List (High Evidence).","entity_name":"TECTA","entity_type":"gene"},{"created":"2020-04-17T18:37:22.080118+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TECTA were changed from  to Deafness, autosomal recessive 21 603629; Deafness, autosomal dominant 8/12 601543","entity_name":"TECTA","entity_type":"gene"},{"created":"2020-04-17T18:36:58.998686+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TECTA were set to ","entity_name":"TECTA","entity_type":"gene"},{"created":"2020-04-17T18:36:31.398137+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.334","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TECTA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TECTA","entity_type":"gene"},{"created":"2020-04-17T18:36:00.890099+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TECTA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22718023, 17136632, 31554319, 21520338; Phenotypes: Deafness, autosomal recessive 21 603629, Deafness, autosomal dominant 8/12 601543; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TECTA","entity_type":"gene"},{"created":"2020-04-17T18:34:56.599086+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2328","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TECTA as ready","entity_name":"TECTA","entity_type":"gene"},{"created":"2020-04-17T18:34:56.592690+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2328","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Both recessive and dominant deafness associations assessed as DEFINITIVE by ClinGen.","entity_name":"TECTA","entity_type":"gene"},{"created":"2020-04-17T18:34:56.545299+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2328","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tecta has been classified as Green List (High Evidence).","entity_name":"TECTA","entity_type":"gene"},{"created":"2020-04-17T18:34:46.344531+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2328","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TECTA were changed from  to Deafness, autosomal recessive 21 603629; Deafness, autosomal dominant 8/12 601543","entity_name":"TECTA","entity_type":"gene"},{"created":"2020-04-17T18:34:13.879554+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2327","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TECTA were set to ","entity_name":"TECTA","entity_type":"gene"},{"created":"2020-04-17T18:33:30.890022+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2326","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: TECTA was changed from  to Other","entity_name":"TECTA","entity_type":"gene"},{"created":"2020-04-17T18:32:49.508722+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2325","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TECTA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TECTA","entity_type":"gene"},{"created":"2020-04-17T18:31:23.807481+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAPPC9 as ready","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-04-17T18:31:23.793722+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc9 has been classified as Green List (High Evidence).","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-04-17T18:31:18.849458+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRAPPC9 were changed from  to Mental retardation, autosomal recessive 13, MIM# 613192","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-04-17T18:30:55.749585+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRAPPC9 were set to ","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-04-17T18:30:22.509301+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRAPPC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-04-17T18:27:18.748935+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 22549410, 20004765, 20004763, 30853973; Phenotypes: Mental retardation, autosomal recessive 13, MIM# 613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-04-17T18:26:13.760473+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2324","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRAPPC9 were set to 22549410; 20004765; 20004763","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-04-17T18:24:55.351709+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2323","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAPPC9 as ready","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-04-17T18:24:55.343165+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2323","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc9 has been classified as Green List (High Evidence).","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-04-17T18:22:17.091545+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2323","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRAPPC9 were changed from  to Mental retardation, autosomal recessive 13, MIM# 613192","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-04-17T18:21:40.904135+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2322","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRAPPC9 were set to ","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-04-17T18:21:16.975156+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2321","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRAPPC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-04-17T18:20:55.052389+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2320","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 22549410, 20004765, 20004763; Phenotypes: Mental retardation, autosomal recessive 13, MIM# 613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-04-17T18:18:35.610614+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2320","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOS1 as ready","entity_name":"SOS1","entity_type":"gene"},{"created":"2020-04-17T18:18:35.604255+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2320","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: The association with Noonan syndrome is well established; the association with gingival fibromatosis is questionable.","entity_name":"SOS1","entity_type":"gene"},{"created":"2020-04-17T18:18:35.557486+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2320","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sos1 has been classified as Green List (High Evidence).","entity_name":"SOS1","entity_type":"gene"},{"created":"2020-04-17T18:18:27.725651+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2320","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOS1 were changed from  to ?Fibromatosis, gingival, 1, 135300; Noonan syndrome 4, 610733","entity_name":"SOS1","entity_type":"gene"},{"created":"2020-04-17T18:17:47.761355+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2319","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SOS1 were set to ","entity_name":"SOS1","entity_type":"gene"},{"created":"2020-04-17T18:17:31.666405+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2318","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: SOS1 was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"SOS1","entity_type":"gene"},{"created":"2020-04-17T18:17:17.626807+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2317","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SOS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOS1","entity_type":"gene"},{"created":"2020-04-17T18:16:01.327259+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: F11 as ready","entity_name":"F11","entity_type":"gene"},{"created":"2020-04-17T18:16:01.312919+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f11 has been classified as Green List (High Evidence).","entity_name":"F11","entity_type":"gene"},{"created":"2020-04-17T18:15:58.338132+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: F11 were changed from  to Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416","entity_name":"F11","entity_type":"gene"},{"created":"2020-04-17T18:15:19.507265+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: F11 were set to ","entity_name":"F11","entity_type":"gene"},{"created":"2020-04-17T18:14:50.663717+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: F11 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"F11","entity_type":"gene"},{"created":"2020-04-17T18:14:18.277638+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: None; Publications: 18446632, 15026311; Phenotypes: Factor XI deficiency, autosomal dominant 612416, Factor XI deficiency, autosomal recessive, MIM#612416; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"F11","entity_type":"gene"},{"created":"2020-04-17T18:13:21.300332+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2316","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: F11 as ready","entity_name":"F11","entity_type":"gene"},{"created":"2020-04-17T18:13:21.291883+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2316","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f11 has been classified as Green List (High Evidence).","entity_name":"F11","entity_type":"gene"},{"created":"2020-04-17T18:13:12.451509+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2316","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: F11 were changed from  to Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416","entity_name":"F11","entity_type":"gene"},{"created":"2020-04-17T18:12:23.114237+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2315","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: F11 were set to ","entity_name":"F11","entity_type":"gene"},{"created":"2020-04-17T18:12:01.305957+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2314","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: F11 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"F11","entity_type":"gene"},{"created":"2020-04-17T18:10:16.082682+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2313","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MED13L as ready","entity_name":"MED13L","entity_type":"gene"},{"created":"2020-04-17T18:10:16.078558+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2313","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: The evidence for isolated CHD much less compelling than the association with a neurodevelopmental syndrome.","entity_name":"MED13L","entity_type":"gene"},{"created":"2020-04-17T18:10:16.048462+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2313","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: med13l has been classified as Green List (High Evidence).","entity_name":"MED13L","entity_type":"gene"},{"created":"2020-04-17T18:06:56.094146+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2313","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MED13L were changed from  to Mental retardation and distinctive facial features with or without cardiac defects 616789; Transposition of the great arteries, dextro-looped 1 608808","entity_name":"MED13L","entity_type":"gene"},{"created":"2020-04-17T18:06:47.092456+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.83","user_name":"Bryony Thompson","item_type":"entity","text":"Tag STR tag was added to gene: FMR1.","entity_name":"FMR1","entity_type":"gene"},{"created":"2020-04-17T18:05:49.339323+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Tag STR tag was added to gene: FMR1.","entity_name":"FMR1","entity_type":"gene"},{"created":"2020-04-17T18:05:39.228936+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2312","user_name":"Bryony Thompson","item_type":"entity","text":"Tag STR tag was added to gene: FMR1.","entity_name":"FMR1","entity_type":"gene"},{"created":"2020-04-17T18:05:21.787453+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2524","user_name":"Bryony Thompson","item_type":"entity","text":"Tag STR tag was added to gene: FMR1.","entity_name":"FMR1","entity_type":"gene"},{"created":"2020-04-17T18:02:56.376521+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2312","user_name":"Bryony Thompson","item_type":"entity","text":"Tag STR tag was added to gene: DMPK.","entity_name":"DMPK","entity_type":"gene"},{"created":"2020-04-17T17:59:08.901647+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2312","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MED13L were set to ","entity_name":"MED13L","entity_type":"gene"},{"created":"2020-04-17T17:58:54.358511+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2311","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MED13L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MED13L","entity_type":"gene"},{"created":"2020-04-17T17:58:08.902158+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2310","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PROKR2 as ready","entity_name":"PROKR2","entity_type":"gene"},{"created":"2020-04-17T17:58:08.893631+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2310","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prokr2 has been classified as Green List (High Evidence).","entity_name":"PROKR2","entity_type":"gene"},{"created":"2020-04-17T17:57:06.713172+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PROKR2 as ready","entity_name":"PROKR2","entity_type":"gene"},{"created":"2020-04-17T17:57:06.699719+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prokr2 has been classified as Amber List (Moderate Evidence).","entity_name":"PROKR2","entity_type":"gene"},{"created":"2020-04-17T17:57:03.080111+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PROKR2 were changed from  to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200","entity_name":"PROKR2","entity_type":"gene"},{"created":"2020-04-17T17:56:33.170674+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PROKR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PROKR2","entity_type":"gene"},{"created":"2020-04-17T17:56:10.097724+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PROKR2 as Amber List (moderate evidence)","entity_name":"PROKR2","entity_type":"gene"},{"created":"2020-04-17T17:56:10.084239+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prokr2 has been classified as Amber List (Moderate Evidence).","entity_name":"PROKR2","entity_type":"gene"},{"created":"2020-04-17T17:55:46.201545+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Tag STR tag was added to gene: C9orf72.","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-04-17T17:55:39.921815+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PROKR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PROKR2","entity_type":"gene"},{"created":"2020-04-17T17:54:54.988864+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: C9orf72 as ready","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-04-17T17:54:54.975106+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: c9orf72 has been classified as Green List (High Evidence).","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-04-17T17:54:43.647571+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: C9orf72 as Green List (high evidence)","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-04-17T17:54:43.637100+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: c9orf72 has been classified as Green List (High Evidence).","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-04-17T17:53:08.220661+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2310","user_name":"Bryony Thompson","item_type":"entity","text":"Tag STR tag was added to gene: BEAN1.","entity_name":"BEAN1","entity_type":"gene"},{"created":"2020-04-17T17:51:28.744948+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PROKR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18826963, 29161432; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PROKR2","entity_type":"gene"},{"created":"2020-04-17T17:49:19.148022+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2310","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CCT5 as Amber List (moderate evidence)","entity_name":"CCT5","entity_type":"gene"},{"created":"2020-04-17T17:49:19.132902+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2310","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cct5 has been classified as Amber List (Moderate Evidence).","entity_name":"CCT5","entity_type":"gene"},{"created":"2020-04-17T17:48:50.742735+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2309","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: None; Publications: 16399879, 25124038, 25345891; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCT5","entity_type":"gene"}]}