{"count":220324,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=913","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=911","results":[{"created":"2022-03-27T16:08:40.127628+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12019","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNAP29 as ready","entity_name":"SNAP29","entity_type":"gene"},{"created":"2022-03-27T16:08:40.115436+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12019","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snap29 has been classified as Green List (High Evidence).","entity_name":"SNAP29","entity_type":"gene"},{"created":"2022-03-27T16:08:32.267630+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12019","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNAP29 were changed from  to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, MIM#609528","entity_name":"SNAP29","entity_type":"gene"},{"created":"2022-03-27T16:08:13.479623+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12018","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SNAP29 were set to ","entity_name":"SNAP29","entity_type":"gene"},{"created":"2022-03-27T16:07:51.124708+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12017","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SNAP29 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SNAP29","entity_type":"gene"},{"created":"2022-03-27T16:07:32.753551+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12016","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 29051910, 21073448, 30793783; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, MIM#609528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SNAP29","entity_type":"gene"},{"created":"2022-03-27T16:05:02.187827+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12016","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNAP25 as ready","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-03-27T16:05:02.177249+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12016","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snap25 has been classified as Green List (High Evidence).","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-03-27T16:04:54.402126+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12016","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNAP25 were changed from  to Neurodevelopmental disorder, MONDO:0700092, SNAP25-related; Myasthenic syndrome, congenital, 18, MIM# 616330","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-03-27T16:04:34.583807+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12015","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SNAP25 were set to ","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-03-27T16:03:58.042971+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12014","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SNAP25 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-03-27T16:03:36.179052+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12013","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SNAP25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25003006, 29100083, 28135719; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SNAP25-related, Myasthenic syndrome, congenital, 18, MIM# 616330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-03-27T16:00:25.137559+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12013","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNAI2 as ready","entity_name":"SNAI2","entity_type":"gene"},{"created":"2022-03-27T16:00:25.115351+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12013","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snai2 has been classified as Amber List (Moderate Evidence).","entity_name":"SNAI2","entity_type":"gene"},{"created":"2022-03-27T16:00:17.519566+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12013","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNAI2 were changed from  to Waardenburg syndrome, type 2D, MIM# 608890; Piebaldism, MIM# 172800","entity_name":"SNAI2","entity_type":"gene"},{"created":"2022-03-27T15:59:57.848564+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12012","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SNAI2 were set to ","entity_name":"SNAI2","entity_type":"gene"},{"created":"2022-03-27T15:59:38.007929+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12011","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SNAI2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SNAI2","entity_type":"gene"},{"created":"2022-03-27T15:59:18.560183+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12010","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SNAI2 as Amber List (moderate evidence)","entity_name":"SNAI2","entity_type":"gene"},{"created":"2022-03-27T15:59:18.549069+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12010","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snai2 has been classified as Amber List (Moderate Evidence).","entity_name":"SNAI2","entity_type":"gene"},{"created":"2022-03-27T15:59:00.861878+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12009","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12444107, 30936914, 12955764, 24443330; Phenotypes: Waardenburg syndrome, type 2D, MIM# 608890, Piebaldism, MIM# 172800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SNAI2","entity_type":"gene"},{"created":"2022-03-27T15:53:53.207628+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMS as ready","entity_name":"SMS","entity_type":"gene"},{"created":"2022-03-27T15:53:53.198065+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sms has been classified as Green List (High Evidence).","entity_name":"SMS","entity_type":"gene"},{"created":"2022-03-27T15:53:50.228472+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMS were changed from MRXSSR; MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE to Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664","entity_name":"SMS","entity_type":"gene"},{"created":"2022-03-27T15:53:42.041934+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMS were set to ","entity_name":"SMS","entity_type":"gene"},{"created":"2022-03-27T15:53:29.856503+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583, Syndromic X-linked intellectual disability Snyder type, MONDO:0010664; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SMS","entity_type":"gene"},{"created":"2022-03-27T15:53:10.036519+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12009","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMS as ready","entity_name":"SMS","entity_type":"gene"},{"created":"2022-03-27T15:53:10.026651+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12009","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sms has been classified as Green List (High Evidence).","entity_name":"SMS","entity_type":"gene"},{"created":"2022-03-27T15:51:52.550247+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4615","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMS as ready","entity_name":"SMS","entity_type":"gene"},{"created":"2022-03-27T15:51:52.540761+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4615","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sms has been classified as Green List (High Evidence).","entity_name":"SMS","entity_type":"gene"},{"created":"2022-03-27T15:51:44.853549+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4615","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMS were changed from  to Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664","entity_name":"SMS","entity_type":"gene"},{"created":"2022-03-27T15:51:11.238359+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4614","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMS were set to ","entity_name":"SMS","entity_type":"gene"},{"created":"2022-03-27T15:50:39.046311+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4613","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SMS","entity_type":"gene"},{"created":"2022-03-27T15:50:05.175336+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4612","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583, Syndromic X-linked intellectual disability Snyder type, MONDO:0010664; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SMS","entity_type":"gene"},{"created":"2022-03-27T15:49:55.864561+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12009","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMS were changed from  to Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664","entity_name":"SMS","entity_type":"gene"},{"created":"2022-03-27T15:49:31.926009+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12008","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMS were set to ","entity_name":"SMS","entity_type":"gene"},{"created":"2022-03-27T15:49:11.856061+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12007","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SMS","entity_type":"gene"},{"created":"2022-03-27T15:48:53.836883+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12006","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583, Syndromic X-linked intellectual disability Snyder type, MONDO:0010664; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SMS","entity_type":"gene"},{"created":"2022-03-27T11:04:44.426735+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4612","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 to Developmental and epileptic encephalopathy 101 , MIM#619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820","entity_name":"GRIN1","entity_type":"gene"},{"created":"2022-03-27T11:04:09.004213+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4611","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIN1 were set to 29365063; 27164704; 27164704; 28051072","entity_name":"GRIN1","entity_type":"gene"},{"created":"2022-03-27T11:03:16.780479+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4610","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GRIN1: Changed publications: 29365063, 27164704, 27164704, 28051072, 34611970; Changed phenotypes: Developmental and epileptic encephalopathy 101 , MIM#619814, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820","entity_name":"GRIN1","entity_type":"gene"},{"created":"2022-03-27T11:03:01.556796+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1514","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254 to Developmental and epileptic encephalopathy 101, MIM# 619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820","entity_name":"GRIN1","entity_type":"gene"},{"created":"2022-03-27T11:01:40.990124+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1513","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIN1 were set to 29365063; 27164704","entity_name":"GRIN1","entity_type":"gene"},{"created":"2022-03-27T11:01:03.036628+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1512","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GRIN1","entity_type":"gene"},{"created":"2022-03-27T11:00:24.207674+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1511","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GRIN1: Added comment: Note also families reported with bi-allelic LoF variants and DEE phenotype, PMIDs 34611970 and 27164704; Changed publications: 29365063, 27164704, 27164704, 28051072, 34611970; Changed phenotypes: Developmental and epileptic encephalopathy 101 , MIM#619814, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GRIN1","entity_type":"gene"},{"created":"2022-03-27T10:58:39.784589+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12006","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 to Developmental and epileptic encephalopathy 101, MIM#\t619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820","entity_name":"GRIN1","entity_type":"gene"},{"created":"2022-03-27T10:58:13.730447+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12005","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GRIN1: Changed phenotypes: Developmental and epileptic encephalopathy 101, MIM# 619814, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820","entity_name":"GRIN1","entity_type":"gene"},{"created":"2022-03-26T17:41:20.834416+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12005","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPS10 as ready","entity_name":"RPS10","entity_type":"gene"},{"created":"2022-03-26T17:41:20.823270+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12005","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps10 has been classified as Green List (High Evidence).","entity_name":"RPS10","entity_type":"gene"},{"created":"2022-03-26T17:41:12.470719+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12005","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPS10 were changed from  to Diamond-Blackfan anaemia 9, MIM# 613308","entity_name":"RPS10","entity_type":"gene"},{"created":"2022-03-26T17:40:51.715594+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12004","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPS10 were set to ","entity_name":"RPS10","entity_type":"gene"},{"created":"2022-03-26T17:40:29.435419+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12003","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RPS10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPS10","entity_type":"gene"},{"created":"2022-03-26T17:40:08.788797+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12002","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20116044, 23718193, 25946618; Phenotypes: Diamond-Blackfan anemia 9, MIM# 613308; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPS10","entity_type":"gene"},{"created":"2022-03-26T17:38:56.671214+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12002","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ROBO3 as ready","entity_name":"ROBO3","entity_type":"gene"},{"created":"2022-03-26T17:38:56.661522+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12002","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: robo3 has been classified as Green List (High Evidence).","entity_name":"ROBO3","entity_type":"gene"},{"created":"2022-03-26T17:38:44.731075+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12002","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ROBO3 were changed from  to Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM# 607313)","entity_name":"ROBO3","entity_type":"gene"},{"created":"2022-03-26T17:38:23.757724+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12001","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ROBO3 were set to ","entity_name":"ROBO3","entity_type":"gene"},{"created":"2022-03-26T17:38:03.747762+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12000","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ROBO3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ROBO3","entity_type":"gene"},{"created":"2022-03-26T17:37:15.274281+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11999","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ROBO2 as ready","entity_name":"ROBO2","entity_type":"gene"},{"created":"2022-03-26T17:37:15.261646+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11999","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: robo2 has been classified as Green List (High Evidence).","entity_name":"ROBO2","entity_type":"gene"},{"created":"2022-03-26T17:37:07.100140+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11999","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ROBO2 were changed from  to Vesicoureteral reflux 2 - MIM#610878; CAKUT","entity_name":"ROBO2","entity_type":"gene"},{"created":"2022-03-26T17:36:45.977753+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11998","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ROBO2 were set to ","entity_name":"ROBO2","entity_type":"gene"},{"created":"2022-03-26T17:36:25.392036+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11997","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ROBO2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ROBO2","entity_type":"gene"},{"created":"2022-03-26T17:36:05.018834+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11996","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ROBO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18235093, 19350278, 24429398, 17357069, 26026792, 29194579, 34059960; Phenotypes: Vesicoureteral reflux 2 - MIM#610878, CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ROBO2","entity_type":"gene"},{"created":"2022-03-26T17:33:34.233693+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11996","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF216 as ready","entity_name":"RNF216","entity_type":"gene"},{"created":"2022-03-26T17:33:34.223050+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11996","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf216 has been classified as Green List (High Evidence).","entity_name":"RNF216","entity_type":"gene"},{"created":"2022-03-26T17:33:25.847366+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11996","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNF216 were changed from  to Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840","entity_name":"RNF216","entity_type":"gene"},{"created":"2022-03-26T17:33:06.039042+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11995","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNF216 were set to ","entity_name":"RNF216","entity_type":"gene"},{"created":"2022-03-26T17:32:38.231095+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11994","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RNF216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RNF216","entity_type":"gene"},{"created":"2022-03-26T16:17:43.708606+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11993","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP2B2 as ready","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2022-03-26T16:17:43.687613+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11993","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp2b2 has been classified as Green List (High Evidence).","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2022-03-26T16:17:41.679107+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.123","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP2B2 were changed from Dominant progressive sensorineural deafness; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386 to Deafness, autosomal dominant 82, MIM# 619804; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2022-03-26T16:17:33.967162+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11993","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP2B2 were changed from progressive sensorineural deafness to Deafness, autosomal dominant 82, MIM# 619804; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2022-03-26T16:17:18.038248+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.122","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP2B2 were set to 30535804","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2022-03-26T16:16:51.612032+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11992","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP2B2 were set to ","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2022-03-26T16:16:34.572510+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.121","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ATP2B2: Changed phenotypes: Deafness, autosomal dominant 82, MIM# 619804, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2022-03-26T16:16:07.006336+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11991","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ATP2B2: Changed phenotypes: Deafness, autosomal dominant 82, MIM# 619804, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2022-03-26T13:59:10.706598+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TFAP2B as ready","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2022-03-26T13:59:10.696272+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfap2b has been classified as Green List (High Evidence).","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2022-03-26T13:59:05.779599+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TFAP2B were changed from  to Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM# 617035","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2022-03-26T13:58:35.546304+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TFAP2B were set to ","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2022-03-26T13:58:08.116595+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2022-03-26T13:57:32.111912+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TFAP2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 11505339, 15684060, 18752453, 21643846; Phenotypes: Char syndrome, MIM# 169100, Patent ductus arteriosus 2, MIM# 617035; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2022-03-26T13:57:20.714463+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11991","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TFAP2B as ready","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2022-03-26T13:57:20.704537+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11991","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfap2b has been classified as Green List (High Evidence).","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2022-03-26T13:56:44.446850+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11991","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TFAP2B were set to 11505339; 15684060; 18752453; 21643846","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2022-03-26T13:56:23.845806+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11990","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established association with syndromic and non-syndromic PDA.; to: Well established association with syndromic and non-syndromic PDA.\r\n\r\nFour individuals reported in PMID: 31292255 (Correction in PMID: 31405973) as part of a craniosynostosis cohort: 2 de novo and 2 inherited. There is evidence for reduced penetrance as in one case the variant was inherited from an unaffected parent (affected parent for the other inherited variant). ","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2022-03-26T13:56:04.875182+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11990","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TFAP2B: Changed publications: 31292255, 11505339, 15684060, 18752453, 21643846; Changed phenotypes: Char syndrome, MIM# 169100, Patent ductus arteriosus 2, MIM# 617035, Syndromic craniosynostosis","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2022-03-26T13:55:18.843826+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11990","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TFAP2B were changed from Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM#\t617035 to Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM#\t617035; Syndromic craniosynostosis","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2022-03-26T13:54:29.103020+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11989","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TFAP2B were changed from  to Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM#\t617035","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2022-03-26T13:53:54.814631+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11988","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TFAP2B were set to ","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2022-03-26T13:53:31.928605+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11987","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2022-03-26T13:53:13.671851+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11986","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TFAP2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 11505339, 15684060, 18752453, 21643846; Phenotypes: Char syndrome, MIM# 169100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2022-03-26T13:50:15.244043+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11986","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TERT as ready","entity_name":"TERT","entity_type":"gene"},{"created":"2022-03-26T13:50:15.233260+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11986","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tert has been classified as Green List (High Evidence).","entity_name":"TERT","entity_type":"gene"},{"created":"2022-03-26T13:50:07.281332+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11986","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TERT were changed from  to Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742","entity_name":"TERT","entity_type":"gene"},{"created":"2022-03-26T13:49:47.691344+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11985","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TERT were set to ","entity_name":"TERT","entity_type":"gene"},{"created":"2022-03-26T13:49:28.756656+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11984","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TERT","entity_type":"gene"},{"created":"2022-03-26T13:49:11.408883+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11983","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: None; Publications: 16247010, 15814878; Phenotypes: Dyskeratosis congenita, MIM# 613989, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TERT","entity_type":"gene"},{"created":"2022-03-26T13:47:52.880462+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11983","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TERC as ready","entity_name":"TERC","entity_type":"gene"},{"created":"2022-03-26T13:47:52.869045+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11983","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: terc has been classified as Green List (High Evidence).","entity_name":"TERC","entity_type":"gene"}]}