{"count":220324,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=907","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=905","results":[{"created":"2022-03-28T17:30:32.516137+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12183","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ADRB1 were changed from [Resting heart rate] MIM#607276; [Short sleep, familial natural, 2] MIM#618591 to [Resting heart rate] MIM#607276; [Short sleep, familial natural, 2] MIM#618591","entity_name":"ADRB1","entity_type":"gene"},{"created":"2022-03-28T17:28:56.952809+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12182","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NUP62","entity_type":"gene"},{"created":"2022-03-28T17:28:53.488358+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.462","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NUP62","entity_type":"gene"},{"created":"2022-03-28T17:24:43.108391+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12182","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ADRB1 were changed from  to [Resting heart rate] MIM#607276; [Short sleep, familial natural, 2] MIM#618591","entity_name":"ADRB1","entity_type":"gene"},{"created":"2022-03-28T17:24:32.510506+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12181","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ADRB1 as ready","entity_name":"ADRB1","entity_type":"gene"},{"created":"2022-03-28T17:24:32.498514+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12181","user_name":"Elena Savva","item_type":"entity","text":"Gene: adrb1 has been classified as Red List (Low Evidence).","entity_name":"ADRB1","entity_type":"gene"},{"created":"2022-03-28T17:21:40.537117+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12181","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ADRB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ADRB1","entity_type":"gene"},{"created":"2022-03-28T17:21:37.188622+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12182","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ADRB1 were set to ","entity_name":"ADRB1","entity_type":"gene"},{"created":"2022-03-28T17:21:29.196304+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12181","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ADRB1 as Red List (low evidence)","entity_name":"ADRB1","entity_type":"gene"},{"created":"2022-03-28T17:21:29.186178+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12181","user_name":"Elena Savva","item_type":"entity","text":"Gene: adrb1 has been classified as Red List (Low Evidence).","entity_name":"ADRB1","entity_type":"gene"},{"created":"2022-03-28T17:16:49.957992+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12180","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ADRB1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31473062, 34716504; Phenotypes: [Resting heart rate] MIM#607276, [Short sleep, familial natural, 2] MIM#618591; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ADRB1","entity_type":"gene"},{"created":"2022-03-28T17:10:24.981973+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12180","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NTN1 as ready","entity_name":"NTN1","entity_type":"gene"},{"created":"2022-03-28T17:10:24.963789+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12180","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ntn1 has been classified as Green List (High Evidence).","entity_name":"NTN1","entity_type":"gene"},{"created":"2022-03-28T17:10:17.014915+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12180","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NTN1 were changed from  to Mirror movements 4 MIM#618264","entity_name":"NTN1","entity_type":"gene"},{"created":"2022-03-28T17:09:56.643906+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12179","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NTN1 were set to ","entity_name":"NTN1","entity_type":"gene"},{"created":"2022-03-28T17:09:36.844468+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12178","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NTN1","entity_type":"gene"},{"created":"2022-03-28T17:08:53.500186+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12177","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NSD1 as ready","entity_name":"NSD1","entity_type":"gene"},{"created":"2022-03-28T17:08:53.490391+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12177","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsd1 has been classified as Green List (High Evidence).","entity_name":"NSD1","entity_type":"gene"},{"created":"2022-03-28T17:08:45.279752+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12177","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NSD1 were changed from  to Sotos syndrome 1 (MIM#117550), AD","entity_name":"NSD1","entity_type":"gene"},{"created":"2022-03-28T17:08:24.170926+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12176","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NSD1 were set to ","entity_name":"NSD1","entity_type":"gene"},{"created":"2022-03-28T17:08:04.022620+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12175","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NSD1","entity_type":"gene"},{"created":"2022-03-28T17:07:19.075008+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12174","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NRCAM as ready","entity_name":"NRCAM","entity_type":"gene"},{"created":"2022-03-28T17:07:19.059447+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nrcam has been classified as Green List (High Evidence).","entity_name":"NRCAM","entity_type":"gene"},{"created":"2022-03-28T17:06:48.305210+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12174","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NR4A3 as ready","entity_name":"NR4A3","entity_type":"gene"},{"created":"2022-03-28T17:06:48.292319+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr4a3 has been classified as Red List (Low Evidence).","entity_name":"NR4A3","entity_type":"gene"},{"created":"2022-03-28T17:06:31.306041+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12174","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NR4A3 as Red List (low evidence)","entity_name":"NR4A3","entity_type":"gene"},{"created":"2022-03-28T17:06:31.292124+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr4a3 has been classified as Red List (Low Evidence).","entity_name":"NR4A3","entity_type":"gene"},{"created":"2022-03-28T17:05:25.471595+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12173","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NKX2-5 as ready","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2022-03-28T17:05:25.460922+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nkx2-5 has been classified as Green List (High Evidence).","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2022-03-28T17:04:54.776243+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12173","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NKX2-5 were set to 30354339; 28690296; 25503402; 27855642","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2022-03-28T17:04:22.850217+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12172","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: 25742962, 26805889; Phenotypes: Ventricular septal defect 3 (MIM#614432), Tetralogy of Fallot (MIM#187500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2022-03-28T17:03:46.567207+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12172","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NKX2-5 were changed from  to Atrial septal defect 7, with or without AV conduction defects, MIM#\t108900; Ventricular septal defect 3 (MIM#614432); Tetralogy of Fallot (MIM#187500)","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2022-03-28T17:02:39.695254+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12171","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NKX2-5 were set to ","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2022-03-28T17:02:19.747424+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12170","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NKX2-5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2022-03-28T17:01:43.150918+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12169","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NKX2-1 as ready","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2022-03-28T17:01:43.141386+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nkx2-1 has been classified as Green List (High Evidence).","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2022-03-28T17:01:32.360380+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12169","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NKX2-1 were changed from  to Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2022-03-28T17:01:12.486541+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12168","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NKX2-1 were set to ","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2022-03-28T17:00:51.019733+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12167","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NKX2-1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2022-03-28T16:59:04.164380+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12166","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFAF5 as ready","entity_name":"NDUFAF5","entity_type":"gene"},{"created":"2022-03-28T16:59:04.150229+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufaf5 has been classified as Green List (High Evidence).","entity_name":"NDUFAF5","entity_type":"gene"},{"created":"2022-03-28T16:58:56.173307+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12166","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFAF5 were changed from  to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224","entity_name":"NDUFAF5","entity_type":"gene"},{"created":"2022-03-28T16:58:36.594125+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12165","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFAF5 were set to ","entity_name":"NDUFAF5","entity_type":"gene"},{"created":"2022-03-28T16:58:17.125669+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12164","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFAF5","entity_type":"gene"},{"created":"2022-03-28T16:57:39.583087+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12163","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFS4 as ready","entity_name":"NDUFS4","entity_type":"gene"},{"created":"2022-03-28T16:57:39.570101+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufs4 has been classified as Green List (High Evidence).","entity_name":"NDUFS4","entity_type":"gene"},{"created":"2022-03-28T16:57:32.082184+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12163","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFS4 were changed from  to Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010","entity_name":"NDUFS4","entity_type":"gene"},{"created":"2022-03-28T16:57:03.824522+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12162","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFS4 were set to ","entity_name":"NDUFS4","entity_type":"gene"},{"created":"2022-03-28T16:56:44.152473+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12161","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFS4","entity_type":"gene"},{"created":"2022-03-28T16:56:05.901340+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12160","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFV2 as ready","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-28T16:56:05.886917+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12160","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufv2 has been classified as Green List (High Evidence).","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-28T16:55:53.929703+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12160","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFV2 were changed from  to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-28T16:53:26.953307+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12159","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ADH1B were changed from  to Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} MIM#103780; {Alcohol dependence, protection against} MIM#103780","entity_name":"ADH1B","entity_type":"gene"},{"created":"2022-03-28T16:53:21.019393+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12159","user_name":"Elena Savva","item_type":"entity","text":"Mode of pathogenicity for gene: ADH1B was changed from  to None","entity_name":"ADH1B","entity_type":"gene"},{"created":"2022-03-28T16:53:14.365540+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12158","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ADH1B as Red List (low evidence)","entity_name":"ADH1B","entity_type":"gene"},{"created":"2022-03-28T16:53:14.352757+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12158","user_name":"Elena Savva","item_type":"entity","text":"Gene: adh1b has been classified as Red List (Low Evidence).","entity_name":"ADH1B","entity_type":"gene"},{"created":"2022-03-28T16:52:42.863848+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12157","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFV2 were set to ","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-28T16:52:21.082914+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12156","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-28T16:51:39.671359+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12155","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ADH1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} MIM#103780, {Alcohol dependence, protection against} MIM#103780; Mode of inheritance: Unknown","entity_name":"ADH1B","entity_type":"gene"},{"created":"2022-03-28T16:46:44.276636+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1531","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Multiple affected individuals reported; DD/ID is variable but present in most.; to: Multiple affected individuals reported; seizures are part of the phenotype.","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T16:46:25.631187+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1531","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA2D2 as ready","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T16:46:25.621783+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1531","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna2d2 has been classified as Green List (High Evidence).","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T16:46:21.649955+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1531","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNA2D2 were changed from  to Cerebellar atrophy with seizures and variable developmental delay MIM#618501","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T16:45:46.061223+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1530","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CACNA2D2 were set to ","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T16:45:10.446758+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1529","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CACNA2D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T16:44:35.718543+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12155","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ADGRV1 were changed from ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472 to ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472","entity_name":"ADGRV1","entity_type":"gene"},{"created":"2022-03-28T16:44:31.253946+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1528","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CACNA2D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23339110, 24358150, 30410802, 29997391, 31402629, 11487633, 11756448, 4177347, 14660671, 15331424; Phenotypes: Cerebellar atrophy with seizures and variable developmental delay MIM#618501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T16:42:53.480342+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12154","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: CACNA1F.","entity_name":"CACNA1F","entity_type":"gene"},{"created":"2022-03-28T16:41:46.003705+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12154","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CA2 were changed from  to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730","entity_name":"CA2","entity_type":"gene"},{"created":"2022-03-28T16:41:22.813679+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12153","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CA2","entity_type":"gene"},{"created":"2022-03-28T16:41:03.902541+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12152","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"CA2","entity_type":"gene"},{"created":"2022-03-28T16:37:42.505260+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.755","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NUBPL as ready","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-03-28T16:37:42.495707+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.755","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nubpl has been classified as Green List (High Evidence).","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-03-28T16:37:32.153357+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.755","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NUBPL were set to 20818383; 32518176; 23553477; 31917109; 32518176; 31787496; 30897263; 22826544","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-03-28T16:35:55.912311+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12152","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: Boderline red/amber\r\n\r\n1 family (the 2nd family reported in PMID:25814141 was found to be distantly related to the one in PMID:12353035)\r\n\r\nMice with targeted T cell and B cell caspase-8 deficiency present normal thymocyte development but a marked decrease in peripheral blood T-cells. Besides, when challenged with the lymphocytic choriomeningitis virus (LCMV), these animals showed a significantly impaired immune response to the infection that included impaired CD8 cell expansion and an abrogated ability to generate virus-specific CD8+ cytotoxic T-cells.; to: Borderline red/amber\r\n\r\n1 family (the 2nd family reported in PMID:25814141 was found to be distantly related to the one in PMID:12353035)\r\n\r\nMice with targeted T cell and B cell caspase-8 deficiency present normal thymocyte development but a marked decrease in peripheral blood T-cells. Besides, when challenged with the lymphocytic choriomeningitis virus (LCMV), these animals showed a significantly impaired immune response to the infection that included impaired CD8 cell expansion and an abrogated ability to generate virus-specific CD8+ cytotoxic T-cells.","entity_name":"CASP8","entity_type":"gene"},{"created":"2022-03-28T16:30:06.414925+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12152","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CASP8: Rating: RED; Mode of pathogenicity: None; Publications: 12353035, 25814141, 12654726, 17213198, 16148088; Phenotypes: utoimmune lymphoproliferative syndrome, type IIB  MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CASP8","entity_type":"gene"},{"created":"2022-03-28T16:28:35.883741+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12152","user_name":"Elena Savva","item_type":"entity","text":"Mode of pathogenicity for gene: ADGRV1 was changed from  to None","entity_name":"ADGRV1","entity_type":"gene"},{"created":"2022-03-28T16:28:35.227390+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12152","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ADGRV1 were changed from  to ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472","entity_name":"ADGRV1","entity_type":"gene"},{"created":"2022-03-28T16:28:33.165207+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12151","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ADGRV1 as ready","entity_name":"ADGRV1","entity_type":"gene"},{"created":"2022-03-28T16:28:33.153330+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12151","user_name":"Elena Savva","item_type":"entity","text":"Gene: adgrv1 has been classified as Green List (High Evidence).","entity_name":"ADGRV1","entity_type":"gene"},{"created":"2022-03-28T16:28:22.424696+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12151","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ADGRV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADGRV1","entity_type":"gene"},{"created":"2022-03-28T16:19:58.618495+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12150","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Febrile seizures, familial, 4  MIM#604352, Usher syndrome, type 2C MIM#60547, Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADGRV1","entity_type":"gene"},{"created":"2022-03-28T16:16:31.092809+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12150","user_name":"Ain Roesley","item_type":"entity","text":"Deleted their review","entity_name":"CASP8","entity_type":"gene"},{"created":"2022-03-28T16:16:20.516871+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12150","user_name":"Ain Roesley","item_type":"entity","text":"Deleted their comment","entity_name":"CASP8","entity_type":"gene"},{"created":"2022-03-28T16:11:06.170551+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12150","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CASP8: Rating: RED; Mode of pathogenicity: None; Publications: 33356695; Phenotypes: Autoimmune lymphoproliferative syndrome, type IIB   MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CASP8","entity_type":"gene"},{"created":"2022-03-28T16:10:43.582191+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12150","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ADCY3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 11055432, 29311636, 29311637; Phenotypes: {Obesity, susceptibility to, BMIQ19} MIM#617885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADCY3","entity_type":"gene"},{"created":"2022-03-28T16:01:09.509644+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.754","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NUBPL were changed from  to Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-03-28T15:59:34.923260+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.753","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NUBPL were set to ","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-03-28T15:58:50.426197+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.431","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NUBPL as ready","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-03-28T15:58:50.414887+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.431","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nubpl has been classified as Green List (High Evidence).","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-03-28T15:58:47.220069+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.431","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NUBPL were changed from  to Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-03-28T15:58:16.154259+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.430","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NUBPL were set to ","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-03-28T15:56:57.945620+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12150","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CASP10 were changed from Autoimmune lymphoproliferative syndrome, type II MIM#603909 to Autoimmune lymphoproliferative syndrome, type II MIM#603909","entity_name":"CASP10","entity_type":"gene"},{"created":"2022-03-28T15:56:54.095600+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.429","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-03-28T15:56:49.644660+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12149","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CASP10 were changed from  to Autoimmune lymphoproliferative syndrome, type II MIM#603909","entity_name":"CASP10","entity_type":"gene"},{"created":"2022-03-28T15:56:40.838930+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12149","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CASP10 as ready","entity_name":"CASP10","entity_type":"gene"},{"created":"2022-03-28T15:56:40.774728+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12149","user_name":"Ain Roesley","item_type":"entity","text":"Gene: casp10 has been classified as Green List (High Evidence).","entity_name":"CASP10","entity_type":"gene"},{"created":"2022-03-28T15:56:38.486203+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12149","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CASP10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CASP10","entity_type":"gene"},{"created":"2022-03-28T15:56:22.673895+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.752","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-03-28T15:56:18.431096+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12149","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CASP10 were set to ","entity_name":"CASP10","entity_type":"gene"}]}