{"count":221385,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=341","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=339","results":[{"created":"2024-11-21T19:46:21.312875+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.587","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: FARS2 were set to ","entity_name":"FARS2","entity_type":"gene"},{"created":"2024-11-21T19:44:43.486573+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.586","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: FKRP as ready","entity_name":"FKRP","entity_type":"gene"},{"created":"2024-11-21T19:44:43.475377+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.586","user_name":"Lilian Downie","item_type":"entity","text":"Gene: fkrp has been classified as Green List (High Evidence).","entity_name":"FKRP","entity_type":"gene"},{"created":"2024-11-21T19:44:31.150337+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.586","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3) to Myopathy caused by variation in FKRP MONDO:0700066","entity_name":"FKRP","entity_type":"gene"},{"created":"2024-11-21T19:44:02.471476+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.585","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: FKRP were set to 38277301","entity_name":"FKRP","entity_type":"gene"},{"created":"2024-11-21T19:42:36.297720+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.584","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: FKRP were set to ","entity_name":"FKRP","entity_type":"gene"},{"created":"2024-11-21T19:41:26.348989+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.583","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: FLVCR1 as ready","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-11-21T19:41:26.336932+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.583","user_name":"Lilian Downie","item_type":"entity","text":"Gene: flvcr1 has been classified as Green List (High Evidence).","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-11-21T19:41:21.215067+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.583","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, 609033 (3) to Ataxia, posterior column, with retinitis pigmentosa, 609033, Neurodevelopmental disorder MONDO:0700092, FLVCR1-related","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-11-21T19:40:10.526077+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.582","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: FLVCR1 were set to ","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-11-21T17:19:40.753987+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.581","user_name":"Lauren Thomas","item_type":"entity","text":"reviewed gene: C8B: Rating: AMBER; Mode of pathogenicity: None; Publications: 7980680, 27183977, 15565265; Phenotypes: C8 deficiency, type II MIM#613789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C8B","entity_type":"gene"},{"created":"2024-11-21T15:43:49.235427+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.581","user_name":"Cassandra Muller","item_type":"entity","text":"reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10737119, 9667588; Phenotypes: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GCH1","entity_type":"gene"},{"created":"2024-11-21T14:40:45.498130+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.581","user_name":"Lauren Thomas","item_type":"entity","text":"reviewed gene: BMPER: Rating: GREEN; Mode of pathogenicity: None; Publications: 20869035, 30006055, 15988748, 17764081; Phenotypes: Diaphanospondylodysostosis, MIM# 608022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BMPER","entity_type":"gene"},{"created":"2024-11-21T14:23:06.542782+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.581","user_name":"Cassandra Muller","item_type":"entity","text":"reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15838507, 8203166, 36720431, 33082983; Phenotypes: Fraser syndrome, 219000 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FREM2","entity_type":"gene"},{"created":"2024-11-21T14:04:39.703583+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.581","user_name":"Lauren Thomas","item_type":"entity","text":"reviewed gene: BIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17676042, 20142620; Phenotypes: Centronuclear myopathy 2, MIM# 255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BIN1","entity_type":"gene"},{"created":"2024-11-21T13:59:01.094402+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.581","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD27 as ready","entity_name":"CD27","entity_type":"gene"},{"created":"2024-11-21T13:59:01.084621+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.581","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd27 has been classified as Green List (High Evidence).","entity_name":"CD27","entity_type":"gene"},{"created":"2024-11-21T13:58:57.786438+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.581","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CD27 were changed from Lymphoproliferative syndrome 2, 615122 (3) to Lymphoproliferative syndrome 2, MIM# 615122","entity_name":"CD27","entity_type":"gene"},{"created":"2024-11-21T13:58:46.804103+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.580","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CD27 were set to ","entity_name":"CD27","entity_type":"gene"},{"created":"2024-11-21T13:58:33.112368+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.579","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CD27: Rating: GREEN; Mode of pathogenicity: None; Publications: 22197273, 22801960, 22365582, 25843314, 11062504; Phenotypes: Lymphoproliferative syndrome 2, MIM# 615122; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CD27","entity_type":"gene"},{"created":"2024-11-21T13:57:06.258947+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.579","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 37675773; Phenotypes: Keutel syndrome MIM#245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MGP","entity_type":"gene"},{"created":"2024-11-21T13:57:00.758255+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.579","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAVIN1 as ready","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2024-11-21T13:57:00.745327+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.579","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cavin1 has been classified as Green List (High Evidence).","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2024-11-21T13:56:57.817619+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.579","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAVIN1 were changed from Lipodystrophy, congenital generalized, type 4, 613327 (3) to Lipodystrophy, congenital generalized, type 4, MIM# 613327; MONDO:0013225","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2024-11-21T13:56:46.358158+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.578","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CAVIN1 were set to ","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2024-11-21T13:56:31.953761+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.577","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CAVIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19726876, 20300641, 20684003, 18840361; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327, MONDO:0013225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2024-11-21T13:53:37.155743+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.577","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCB4 as ready","entity_name":"ABCB4","entity_type":"gene"},{"created":"2024-11-21T13:53:37.144787+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.577","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcb4 has been classified as Green List (High Evidence).","entity_name":"ABCB4","entity_type":"gene"},{"created":"2024-11-21T13:53:34.007174+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.577","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3, 602347 (3) to Cholestasis, progressive familial intrahepatic 3 MIM#602347","entity_name":"ABCB4","entity_type":"gene"},{"created":"2024-11-21T13:53:22.118658+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.576","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCB4 were set to ","entity_name":"ABCB4","entity_type":"gene"},{"created":"2024-11-21T13:53:09.642970+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.575","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17726488; Phenotypes: Cholestasis, progressive familial intrahepatic 3 MIM#602347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCB4","entity_type":"gene"},{"created":"2024-11-21T13:52:10.206971+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.575","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: MBTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32420688, 30046013, 32857899, 36330313, 36816387, 36714646; Phenotypes: Spondyloepiphyseal dysplasia, Kondo-Fu type MIM#618392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MBTPS1","entity_type":"gene"},{"created":"2024-11-21T13:49:34.066423+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.575","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CANT1 as ready","entity_name":"CANT1","entity_type":"gene"},{"created":"2024-11-21T13:49:34.049258+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.575","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cant1 has been classified as Green List (High Evidence).","entity_name":"CANT1","entity_type":"gene"},{"created":"2024-11-21T13:49:30.899772+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.575","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CANT1 were changed from Desbuquois dysplasia, 251450 (3) to Desbuquois dysplasia 1, MIM# 251450; Epiphyseal dysplasia, multiple, 7, MIM# 617719","entity_name":"CANT1","entity_type":"gene"},{"created":"2024-11-21T13:49:19.272803+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.574","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CANT1 were set to ","entity_name":"CANT1","entity_type":"gene"},{"created":"2024-11-21T13:49:01.454367+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.573","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CANT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19853239, 21037275, 28742282; Phenotypes: Desbuquois dysplasia 1, MIM# 251450, Epiphyseal dysplasia, multiple, 7, MIM# 617719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CANT1","entity_type":"gene"},{"created":"2024-11-21T13:47:52.884333+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.573","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C2CD3 as ready","entity_name":"C2CD3","entity_type":"gene"},{"created":"2024-11-21T13:47:52.869840+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.573","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c2cd3 has been classified as Green List (High Evidence).","entity_name":"C2CD3","entity_type":"gene"},{"created":"2024-11-21T13:47:48.650470+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.573","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C2CD3 were changed from Orofaciodigital syndrome XIV to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413","entity_name":"C2CD3","entity_type":"gene"},{"created":"2024-11-21T13:47:45.977408+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.572","user_name":"Marta Cifuentes Ochoa","item_type":"entity","text":"reviewed gene: LBR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12618959, 27604308, 29068549, 32304187; Phenotypes: Greenberg skeletal dysplasia MIM#215140, MONDO:0008974 & Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly MIM#618019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LBR","entity_type":"gene"},{"created":"2024-11-21T13:47:36.684699+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.572","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C2CD3 were set to ","entity_name":"C2CD3","entity_type":"gene"},{"created":"2024-11-21T13:47:19.670488+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.571","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24997988, 26477546, 27094867, 30097616, 33875766; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948, MONDO:0014413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C2CD3","entity_type":"gene"},{"created":"2024-11-21T13:46:36.232163+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.571","user_name":"Cassandra Muller","item_type":"entity","text":"Deleted their comment","entity_name":"FKBP10","entity_type":"gene"},{"created":"2024-11-21T13:46:23.862423+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.571","user_name":"Cassandra Muller","item_type":"entity","text":"edited their review of gene: FKBP10: Added comment: Severe, early onset. Early-onset bone fractures and progressive skeletal deformities. Well established gene-disease association.; Changed phenotypes: Bruck syndrome 1, 259450 (3), osteogenesis imperfecta, type XI, 610968 (3)","entity_name":"FKBP10","entity_type":"gene"},{"created":"2024-11-21T13:45:56.726414+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.571","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C12orf65 as ready","entity_name":"C12orf65","entity_type":"gene"},{"created":"2024-11-21T13:45:56.698757+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.571","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c12orf65 has been classified as Green List (High Evidence).","entity_name":"C12orf65","entity_type":"gene"},{"created":"2024-11-21T13:45:49.243788+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.571","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C12orf65 were changed from Combined oxidative phosphorylation deficiency 7, 613559 (3) to Combined oxidative phosphorylation deficiency 7, MIM# 613559; Spastic paraplegia 55, autosomal recessive, MIM#615035","entity_name":"C12orf65","entity_type":"gene"},{"created":"2024-11-21T13:45:37.319769+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.570","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C12orf65 were set to ","entity_name":"C12orf65","entity_type":"gene"},{"created":"2024-11-21T13:45:25.840163+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.569","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C12orf65.","entity_name":"C12orf65","entity_type":"gene"},{"created":"2024-11-21T13:45:18.006883+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.569","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383, 20598281, 32808965, 32478789, 28804760; Phenotypes: Combined oxidative phosphorylation deficiency 7, MIM# 613559, Spastic paraplegia 55, autosomal recessive, MIM#615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C12orf65","entity_type":"gene"},{"created":"2024-11-21T13:44:49.338690+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.569","user_name":"Cassandra Muller","item_type":"entity","text":"reviewed gene: FKBP10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20362275, 22718341, 22689593, 22718341; Phenotypes: Bruck syndrome 1, 259450 (3), steogenesis imperfecta, type XI, 610968 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKBP10","entity_type":"gene"},{"created":"2024-11-21T13:40:37.956745+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.569","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BMPR1B as ready","entity_name":"BMPR1B","entity_type":"gene"},{"created":"2024-11-21T13:40:37.925809+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.569","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmpr1b has been classified as Green List (High Evidence).","entity_name":"BMPR1B","entity_type":"gene"},{"created":"2024-11-21T13:40:34.670061+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.569","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BMPR1B were changed from Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive to Acromesomelic dysplasia 3, MIM# 609441","entity_name":"BMPR1B","entity_type":"gene"},{"created":"2024-11-21T13:40:08.260343+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.568","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BMPR1B were set to ","entity_name":"BMPR1B","entity_type":"gene"},{"created":"2024-11-21T13:39:55.051464+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.567","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 15805157, 24129431, 26105076; Phenotypes: Acromesomelic dysplasia 3, MIM# 609441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BMPR1B","entity_type":"gene"},{"created":"2024-11-21T13:36:56.274815+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.567","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: MALT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 3727036, 24332264, 14576442, 31037583; Phenotypes: Immunodeficiency 12 MIM#615468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MALT1","entity_type":"gene"},{"created":"2024-11-21T13:36:55.203410+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.567","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BLM as ready","entity_name":"BLM","entity_type":"gene"},{"created":"2024-11-21T13:36:55.177866+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.567","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: blm has been classified as Green List (High Evidence).","entity_name":"BLM","entity_type":"gene"},{"created":"2024-11-21T13:36:52.320364+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.567","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BLM were changed from Bloom syndrome, 210900 (3) to Bloom Syndrome MIM# 210900","entity_name":"BLM","entity_type":"gene"},{"created":"2024-11-21T13:36:40.892614+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.566","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BLM were set to ","entity_name":"BLM","entity_type":"gene"},{"created":"2024-11-21T13:36:22.135976+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.565","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 17407155, 9285778, 7585968, 8079989, 12242442, 11101838; Phenotypes: Bloom Syndrome MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BLM","entity_type":"gene"},{"created":"2024-11-21T13:29:32.593841+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.565","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: APTX as ready","entity_name":"APTX","entity_type":"gene"},{"created":"2024-11-21T13:29:32.574938+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.565","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aptx has been classified as Green List (High Evidence).","entity_name":"APTX","entity_type":"gene"},{"created":"2024-11-21T13:29:25.587612+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.565","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3) to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920","entity_name":"APTX","entity_type":"gene"},{"created":"2024-11-21T13:29:13.134985+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.564","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: APTX were set to ","entity_name":"APTX","entity_type":"gene"},{"created":"2024-11-21T13:28:58.068582+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.563","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30986824, 26256098, 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"APTX","entity_type":"gene"},{"created":"2024-11-21T13:27:50.359813+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.563","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG6 as ready","entity_name":"ALG6","entity_type":"gene"},{"created":"2024-11-21T13:27:50.341250+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.563","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg6 has been classified as Green List (High Evidence).","entity_name":"ALG6","entity_type":"gene"},{"created":"2024-11-21T13:27:46.691592+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.563","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG6 were changed from Congenital disorder of glycosylation, type Ic, 603147 (3) to Congenital disorder of glycosylation, type Ic (MIM#603147)","entity_name":"ALG6","entity_type":"gene"},{"created":"2024-11-21T13:27:34.291150+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.562","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG6 were set to ","entity_name":"ALG6","entity_type":"gene"},{"created":"2024-11-21T13:27:19.630947+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.561","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG6","entity_type":"gene"},{"created":"2024-11-21T13:26:08.015168+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.561","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: LARP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22865833, 21937992, 30006060, 33569879, 36126956, 37529055; Phenotypes: Alazami syndrome MIM#615071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LARP7","entity_type":"gene"},{"created":"2024-11-21T13:23:36.071681+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.561","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGPS as ready","entity_name":"AGPS","entity_type":"gene"},{"created":"2024-11-21T13:23:36.057498+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.561","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agps has been classified as Green List (High Evidence).","entity_name":"AGPS","entity_type":"gene"},{"created":"2024-11-21T13:23:32.167746+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.561","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AGPS were changed from Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3) to Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121","entity_name":"AGPS","entity_type":"gene"},{"created":"2024-11-21T13:23:19.814751+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.560","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AGPS were set to ","entity_name":"AGPS","entity_type":"gene"},{"created":"2024-11-21T13:23:03.853561+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.559","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AGPS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9553082, 8611652, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AGPS","entity_type":"gene"},{"created":"2024-11-21T13:21:37.861092+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.559","user_name":"Cassandra Muller","item_type":"entity","text":"reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 31135052, 31837835, 22146942, 19068277; Phenotypes: Spastic paraplegia 35, autosomal recessive, 612319 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FA2H","entity_type":"gene"},{"created":"2024-11-21T13:18:06.597691+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.559","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACAT1 as ready","entity_name":"ACAT1","entity_type":"gene"},{"created":"2024-11-21T13:18:06.585971+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.559","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acat1 has been classified as Green List (High Evidence).","entity_name":"ACAT1","entity_type":"gene"},{"created":"2024-11-21T13:18:02.440466+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.559","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, 203750 (3) to Alpha-methylacetoacetic aciduria, MIM#203750","entity_name":"ACAT1","entity_type":"gene"},{"created":"2024-11-21T13:17:49.446764+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.558","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACAT1 were set to ","entity_name":"ACAT1","entity_type":"gene"},{"created":"2024-11-21T13:17:35.200659+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.557","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236799, 1715688; Phenotypes: Alpha-methylacetoacetic aciduria, MIM#203750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACAT1","entity_type":"gene"},{"created":"2024-11-21T12:34:24.885739+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.557","user_name":"Lauren Thomas","item_type":"entity","text":"reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551, 24103911; Phenotypes: Spastic paraplegia 26, MIM# 609195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"B4GALNT1","entity_type":"gene"},{"created":"2024-11-21T11:41:18.589667+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.557","user_name":"Lauren Thomas","item_type":"entity","text":"reviewed gene: ATF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26063662, 26029869; Phenotypes: Achromatopsia 7, MIM# 616517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATF6","entity_type":"gene"},{"created":"2024-11-21T09:40:52.874579+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2147","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34483339, 34954817, 23599390, 23596069; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (MIM#620358), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2024-11-20T17:24:58.628913+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.557","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: FOXP3 as ready","entity_name":"FOXP3","entity_type":"gene"},{"created":"2024-11-20T17:24:58.615654+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.557","user_name":"Lilian Downie","item_type":"entity","text":"Gene: foxp3 has been classified as Green List (High Evidence).","entity_name":"FOXP3","entity_type":"gene"},{"created":"2024-11-20T17:24:43.778188+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.557","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: FOXP3 were set to ","entity_name":"FOXP3","entity_type":"gene"},{"created":"2024-11-20T17:19:10.698730+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.556","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: ACE as ready","entity_name":"ACE","entity_type":"gene"},{"created":"2024-11-20T17:19:10.684938+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.556","user_name":"Lilian Downie","item_type":"entity","text":"Gene: ace has been classified as Green List (High Evidence).","entity_name":"ACE","entity_type":"gene"},{"created":"2024-11-20T17:17:27.994250+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.556","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: ACE were set to ","entity_name":"ACE","entity_type":"gene"},{"created":"2024-11-20T17:16:07.956921+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.555","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: EYS were set to 31074760; 20537394; 31074760","entity_name":"EYS","entity_type":"gene"},{"created":"2024-11-20T17:15:47.445923+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.554","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: EYS were set to 31074760","entity_name":"EYS","entity_type":"gene"},{"created":"2024-11-20T12:42:56.217664+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.553","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: GUCY1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36941667; Phenotypes: Moyamoya 6 with achalasia, MIM#615750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GUCY1A3","entity_type":"gene"},{"created":"2024-11-20T12:24:09.526041+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"1.11","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24986372, 30359777, 37356817; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2024-11-20T12:19:45.061197+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.553","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30359777, 24986372, 37356817; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2024-11-20T11:22:56.168445+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.553","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901947, 26308914, 31319223; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13, 614831; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GRM1","entity_type":"gene"}]}