{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1847","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1845","results":[{"created":"2020-04-19T20:53:47.042029+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC39 was added\ngene: CCDC39 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC39 were set to Ciliary dyskinesia, primary, 14, 613807 (3)","entity_name":"CCDC39","entity_type":"gene"},{"created":"2020-04-19T20:53:46.840296+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC115 was added\ngene: CCDC115 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo, 616828 (3), Autosomal recessive","entity_name":"CCDC115","entity_type":"gene"},{"created":"2020-04-19T20:53:46.623497+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC114 was added\ngene: CCDC114 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC114 were set to Ciliary dyskinesia, primary, 20, 615067 (3)","entity_name":"CCDC114","entity_type":"gene"},{"created":"2020-04-19T20:53:46.362849+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC103 was added\ngene: CCDC103 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC103 were set to Ciliary dyskinesia, primary, 17, 614679 (3)","entity_name":"CCDC103","entity_type":"gene"},{"created":"2020-04-19T20:53:46.154176+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCBE1 was added\ngene: CCBE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)","entity_name":"CCBE1","entity_type":"gene"},{"created":"2020-04-19T20:53:45.947248+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CC2D2A was added\ngene: CC2D2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CC2D2A were set to Joubert syndrome 9, 612285 (3)","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2020-04-19T20:53:45.744037+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CC2D1A was added\ngene: CC2D1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CC2D1A were set to Mental retardation, autosomal recessive 3, 608443 (3)","entity_name":"CC2D1A","entity_type":"gene"},{"created":"2020-04-19T20:53:45.551301+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CBS was added\ngene: CBS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)","entity_name":"CBS","entity_type":"gene"},{"created":"2020-04-19T20:53:45.358998+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAVIN1 was added\ngene: CAVIN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4, 613327 (3)","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2020-04-19T20:53:45.219762+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CASR was added\ngene: CASR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CASR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, 239200 (3)","entity_name":"CASR","entity_type":"gene"},{"created":"2020-04-19T20:53:45.042811+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CASQ2 was added\ngene: CASQ2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)","entity_name":"CASQ2","entity_type":"gene"},{"created":"2020-04-19T20:53:44.821258+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CASK was added\ngene: CASK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CASK were set to Mental retardation, with or without nystagmus","entity_name":"CASK","entity_type":"gene"},{"created":"2020-04-19T20:53:44.636384+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CARS2 was added\ngene: CARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, 616672 (3), Autosomal recessive","entity_name":"CARS2","entity_type":"gene"},{"created":"2020-04-19T20:53:44.445869+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CARD9 was added\ngene: CARD9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CARD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CARD9 were set to Candidiasis, familial, 2, autosomal recessive, 212050 (3)","entity_name":"CARD9","entity_type":"gene"},{"created":"2020-04-19T20:53:44.257090+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CARD11 was added\ngene: CARD11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CARD11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CARD11 were set to Immunodeficiency 11, 615206 (3)","entity_name":"CARD11","entity_type":"gene"},{"created":"2020-04-19T20:53:44.119537+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAPN3 was added\ngene: CAPN3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A, 253600 (3)","entity_name":"CAPN3","entity_type":"gene"},{"created":"2020-04-19T20:53:43.864296+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CANT1 was added\ngene: CANT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CANT1 were set to Desbuquois dysplasia, 251450 (3)","entity_name":"CANT1","entity_type":"gene"},{"created":"2020-04-19T20:53:43.729765+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CABP4 was added\ngene: CABP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CABP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CABP4 were set to Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3)","entity_name":"CABP4","entity_type":"gene"},{"created":"2020-04-19T20:53:43.525161+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CA2 was added\ngene: CA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)","entity_name":"CA2","entity_type":"gene"},{"created":"2020-04-19T20:53:43.339892+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C8orf37 was added\ngene: C8orf37 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C8orf37 were set to Cone-rod dystrophy 16, 614500 (3)","entity_name":"C8orf37","entity_type":"gene"},{"created":"2020-04-19T20:53:43.143890+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C8B was added\ngene: C8B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C8B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C8B were set to C8 deficiency, type II, 613789 (3)","entity_name":"C8B","entity_type":"gene"},{"created":"2020-04-19T20:53:42.950303+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C7 was added\ngene: C7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C7 were set to C7 deficiency, 610102 (3)","entity_name":"C7","entity_type":"gene"},{"created":"2020-04-19T20:53:42.761364+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C6 was added\ngene: C6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C6 were set to C6 deficiency, 612446 (3)","entity_name":"C6","entity_type":"gene"},{"created":"2020-04-19T20:53:42.556968+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C5 was added\ngene: C5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C5 were set to C5 deficiency, 609536 (3)","entity_name":"C5","entity_type":"gene"},{"created":"2020-04-19T20:53:42.347093+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C3 was added\ngene: C3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C3 were set to C3 deficiency, 613779 (3)","entity_name":"C3","entity_type":"gene"},{"created":"2020-04-19T20:53:42.143951+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C2CD3 was added\ngene: C2CD3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV","entity_name":"C2CD3","entity_type":"gene"},{"created":"2020-04-19T20:53:41.941936+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C1QC was added\ngene: C1QC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C1QC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C1QC were set to C1q deficiency, 613652 (3)","entity_name":"C1QC","entity_type":"gene"},{"created":"2020-04-19T20:53:41.752419+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C1QB was added\ngene: C1QB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C1QB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C1QB were set to C1q deficiency, 613652 (3)","entity_name":"C1QB","entity_type":"gene"},{"created":"2020-04-19T20:53:41.549140+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C1QA was added\ngene: C1QA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C1QA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C1QA were set to C1q deficiency, 613652 (3)","entity_name":"C1QA","entity_type":"gene"},{"created":"2020-04-19T20:53:41.353915+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C19orf12 was added\ngene: C19orf12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4, 614298 (3)","entity_name":"C19orf12","entity_type":"gene"},{"created":"2020-04-19T20:53:41.163206+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C12orf65 was added\ngene: C12orf65 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C12orf65 were set to Combined oxidative phosphorylation deficiency 7, 613559 (3)","entity_name":"C12orf65","entity_type":"gene"},{"created":"2020-04-19T20:53:41.031474+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C12orf57 was added\ngene: C12orf57 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C12orf57 were set to Temtamy syndrome, 218340 (3)","entity_name":"C12orf57","entity_type":"gene"},{"created":"2020-04-19T20:53:40.845229+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BUB1B was added\ngene: BUB1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, 257300 (3)","entity_name":"BUB1B","entity_type":"gene"},{"created":"2020-04-19T20:53:40.642639+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BTK was added\ngene: BTK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: BTK were set to Agammaglobulinemia and isolated hormone deficiency, 307200 (3)","entity_name":"BTK","entity_type":"gene"},{"created":"2020-04-19T20:53:40.438779+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BSND was added\ngene: BSND was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BSND were set to Bartter syndrome, type 4a, 602522 (3)","entity_name":"BSND","entity_type":"gene"},{"created":"2020-04-19T20:53:40.236540+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BSCL2 was added\ngene: BSCL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BSCL2 were set to Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-04-19T20:53:40.052317+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BRWD3 was added\ngene: BRWD3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: BRWD3 were set to Mental retardation, X-linked 93, 300659 (3)","entity_name":"BRWD3","entity_type":"gene"},{"created":"2020-04-19T20:53:39.841919+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BRF1 was added\ngene: BRF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome, 616202 (3)","entity_name":"BRF1","entity_type":"gene"},{"created":"2020-04-19T20:53:39.649500+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BRAT1 was added\ngene: BRAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRAT1 were set to Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)","entity_name":"BRAT1","entity_type":"gene"},{"created":"2020-04-19T20:53:39.467476+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BOLA3 was added\ngene: BOLA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2, 614299 (3)","entity_name":"BOLA3","entity_type":"gene"},{"created":"2020-04-19T20:53:39.340183+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BMPR1B was added\ngene: BMPR1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BMPR1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BMPR1B were set to Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive","entity_name":"BMPR1B","entity_type":"gene"},{"created":"2020-04-19T20:53:39.140706+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BMPER was added\ngene: BMPER was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BMPER were set to Diaphanospondylodysostosis, 608022 (3)","entity_name":"BMPER","entity_type":"gene"},{"created":"2020-04-19T20:53:38.931711+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BLM was added\ngene: BLM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BLM were set to Bloom syndrome, 210900 (3)","entity_name":"BLM","entity_type":"gene"},{"created":"2020-04-19T20:53:38.727660+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BIN1 was added\ngene: BIN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive, 255200 (3)","entity_name":"BIN1","entity_type":"gene"},{"created":"2020-04-19T20:53:38.547140+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BGN was added\ngene: BGN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: BGN were set to Meester-Loeys syndrome, 300989 (3), X-linked","entity_name":"BGN","entity_type":"gene"},{"created":"2020-04-19T20:53:38.351413+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCS1L was added\ngene: BCS1L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCS1L were set to GRACILE syndrome, 603358 (3)","entity_name":"BCS1L","entity_type":"gene"},{"created":"2020-04-19T20:53:38.142918+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCKDK was added\ngene: BCKDK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDK were set to Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)","entity_name":"BCKDK","entity_type":"gene"},{"created":"2020-04-19T20:53:37.947184+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCKDHB was added\ngene: BCKDHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib, 248600 (3)","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2020-04-19T20:53:37.764133+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCKDHA was added\ngene: BCKDHA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHA were set to Maple syrup urine disease, type Ia, 248600 (3)","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2020-04-19T20:53:37.631379+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS9 was added\ngene: BBS9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9, 615986 (3)","entity_name":"BBS9","entity_type":"gene"},{"created":"2020-04-19T20:53:37.449124+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS7 was added\ngene: BBS7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7, 615984 (3)","entity_name":"BBS7","entity_type":"gene"},{"created":"2020-04-19T20:53:37.272372+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS5 was added\ngene: BBS5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS5 were set to Bardet-Biedl syndrome 5, 615983 (3)","entity_name":"BBS5","entity_type":"gene"},{"created":"2020-04-19T20:53:37.066515+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS4 was added\ngene: BBS4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4, 615982 (3)","entity_name":"BBS4","entity_type":"gene"},{"created":"2020-04-19T20:53:36.936735+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS2 was added\ngene: BBS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2, 615981 (3)","entity_name":"BBS2","entity_type":"gene"},{"created":"2020-04-19T20:53:36.752172+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS12 was added\ngene: BBS12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS12 were set to Bardet-Biedl syndrome 12, 615989 (3)","entity_name":"BBS12","entity_type":"gene"},{"created":"2020-04-19T20:53:36.562235+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS10 was added\ngene: BBS10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS10 were set to Bardet-Biedl syndrome 10, 615987 (3)","entity_name":"BBS10","entity_type":"gene"},{"created":"2020-04-19T20:53:36.421583+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS1 was added\ngene: BBS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1, 209900 (3)","entity_name":"BBS1","entity_type":"gene"},{"created":"2020-04-19T20:53:36.221723+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: B4GALT7 was added\ngene: B4GALT7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, progeroid type, 1, 130070 (3)","entity_name":"B4GALT7","entity_type":"gene"},{"created":"2020-04-19T20:53:36.024210+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: B4GALNT1 was added\ngene: B4GALNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive, 609195 (3)","entity_name":"B4GALNT1","entity_type":"gene"},{"created":"2020-04-19T20:53:35.842385+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: B3GLCT was added\ngene: B3GLCT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GLCT were set to Peters-plus syndrome, 261540 (3)","entity_name":"B3GLCT","entity_type":"gene"},{"created":"2020-04-19T20:53:35.640823+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: B3GAT3 was added\ngene: B3GAT3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 (3)","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2020-04-19T20:53:35.450877+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: B3GALT6 was added\ngene: B3GALT6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GALT6 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3)","entity_name":"B3GALT6","entity_type":"gene"},{"created":"2020-04-19T20:53:35.265956+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: B3GALNT2 was added\ngene: B3GALNT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3)","entity_name":"B3GALNT2","entity_type":"gene"},{"created":"2020-04-19T20:53:35.144340+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AUH was added\ngene: AUH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, 250950 (3)","entity_name":"AUH","entity_type":"gene"},{"created":"2020-04-19T20:53:34.962175+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATRX was added\ngene: ATRX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATRX were set to Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)","entity_name":"ATRX","entity_type":"gene"},{"created":"2020-04-19T20:53:34.833201+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATR was added\ngene: ATR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATR were set to Seckel syndrome 1, 210600 (3)","entity_name":"ATR","entity_type":"gene"},{"created":"2020-04-19T20:53:34.651420+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP8B1 was added\ngene: ATP8B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1, 211600 (3)","entity_name":"ATP8B1","entity_type":"gene"},{"created":"2020-04-19T20:53:34.522970+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP8A2 was added\ngene: ATP8A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP8A2 were set to ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4","entity_name":"ATP8A2","entity_type":"gene"},{"created":"2020-04-19T20:53:34.327868+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP7B was added\ngene: ATP7B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP7B were set to Wilson disease, 277900 (3)","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-04-19T20:53:34.150981+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP7A was added\ngene: ATP7A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATP7A were set to Menkes disease, 309400 (3)","entity_name":"ATP7A","entity_type":"gene"},{"created":"2020-04-19T20:53:34.021357+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP6V1B1 was added\ngene: ATP6V1B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis with deafness, 267300 (3)","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2020-04-19T20:53:33.845093+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP6V0A4 was added\ngene: ATP6V0A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V0A4 were set to Renal tubular acidosis, distal, autosomal recessive, 602722 (3)","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2020-04-19T20:53:33.664140+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP6V0A2 was added\ngene: ATP6V0A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA, 219200 (3)","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-04-19T20:53:33.521329+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP6AP1 was added\ngene: ATP6AP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, 300972 (3), X-linked recessive","entity_name":"ATP6AP1","entity_type":"gene"},{"created":"2020-04-19T20:53:33.345796+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP13A2 was added\ngene: ATP13A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP13A2 were set to Spastic paraplegia 78, autosomal recessive, 617225 (3)","entity_name":"ATP13A2","entity_type":"gene"},{"created":"2020-04-19T20:53:33.166810+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATOH7 was added\ngene: ATOH7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATOH7 were set to Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3)","entity_name":"ATOH7","entity_type":"gene"},{"created":"2020-04-19T20:53:33.044431+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATM was added\ngene: ATM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATM were set to Ataxia-telangiectasia, 208900 (3)","entity_name":"ATM","entity_type":"gene"},{"created":"2020-04-19T20:53:32.863938+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATF6 was added\ngene: ATF6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATF6 were set to Achromatopsia 7, 616517 (3), Autosomal recessive","entity_name":"ATF6","entity_type":"gene"},{"created":"2020-04-19T20:53:32.744108+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATCAY was added\ngene: ATCAY was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATCAY were set to Ataxia, cerebellar, Cayman type, 601238 (3)","entity_name":"ATCAY","entity_type":"gene"},{"created":"2020-04-19T20:53:32.564135+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATAD1 was added\ngene: ATAD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATAD1 were set to Hyperekplexia 4, 618011 (3), Autosomal recessive","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-04-19T20:53:32.438453+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASS1 was added\ngene: ASS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASS1 were set to Citrullinemia, 215700 (3)","entity_name":"ASS1","entity_type":"gene"},{"created":"2020-04-19T20:53:32.260147+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASPM was added\ngene: ASPM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASPM were set to Microcephaly 5, primary, autosomal recessive, 608716 (3)","entity_name":"ASPM","entity_type":"gene"},{"created":"2020-04-19T20:53:32.067039+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASPA was added\ngene: ASPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASPA were set to Canavan disease, 271900 (3)","entity_name":"ASPA","entity_type":"gene"},{"created":"2020-04-19T20:53:31.944391+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASNS was added\ngene: ASNS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASNS were set to Asparagine synthetase deficiency, 615574 (3)","entity_name":"ASNS","entity_type":"gene"},{"created":"2020-04-19T20:53:31.763411+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASL was added\ngene: ASL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASL were set to Argininosuccinic aciduria, 207900 (3)","entity_name":"ASL","entity_type":"gene"},{"created":"2020-04-19T20:53:31.333295+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASCC1 was added\ngene: ASCC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASCC1 were set to Barrett esophagus/esophageal adenocarcinoma, 614266 (3)","entity_name":"ASCC1","entity_type":"gene"},{"created":"2020-04-19T20:53:31.160336+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASAH1 was added\ngene: ASAH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASAH1 were set to Farber lipogranulomatosis, 228000 (3)","entity_name":"ASAH1","entity_type":"gene"},{"created":"2020-04-19T20:53:31.036362+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARX was added\ngene: ARX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ARX were set to Hydranencephaly with abnormal genitalia, 300215 (3)","entity_name":"ARX","entity_type":"gene"},{"created":"2020-04-19T20:53:30.862675+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARV1 was added\ngene: ARV1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARV1 were set to Epileptic encephalopathy, early infantile, 38, 617020 (3), Autosomal recessive","entity_name":"ARV1","entity_type":"gene"},{"created":"2020-04-19T20:53:30.742300+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARSB was added\ngene: ARSB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)","entity_name":"ARSB","entity_type":"gene"},{"created":"2020-04-19T20:53:30.563234+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARSA was added\ngene: ARSA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARSA were set to Metachromatic leukodystrophy, 250100 (3)","entity_name":"ARSA","entity_type":"gene"},{"created":"2020-04-19T20:53:30.447745+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARPC1B was added\ngene: ARPC1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARPC1B were set to Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive","entity_name":"ARPC1B","entity_type":"gene"},{"created":"2020-04-19T20:53:30.323601+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARMC4 was added\ngene: ARMC4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARMC4 were set to Ciliary dyskinesia, primary, 23, 615451 (3)","entity_name":"ARMC4","entity_type":"gene"},{"created":"2020-04-19T20:53:30.142252+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARL6 was added\ngene: ARL6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARL6 were set to Bardet-Biedl syndrome 3, 600151 (3)","entity_name":"ARL6","entity_type":"gene"},{"created":"2020-04-19T20:53:29.965045+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARL13B was added\ngene: ARL13B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARL13B were set to Joubert syndrome 8, 612291 (3)","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-04-19T20:53:29.843541+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARHGEF9 was added\ngene: ARHGEF9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ARHGEF9 were set to Epileptic encephalopathy, early infantile, 8, 300607 (3)","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-04-19T20:53:29.660341+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARG1 was added\ngene: ARG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARG1 were set to Argininemia, 207800 (3)","entity_name":"ARG1","entity_type":"gene"},{"created":"2020-04-19T20:53:29.541690+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARFGEF2 was added\ngene: ARFGEF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly, 608097 (3)","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2020-04-19T20:53:29.367734+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AQP2 was added\ngene: AQP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AQP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 125800 (3)","entity_name":"AQP2","entity_type":"gene"},{"created":"2020-04-19T20:53:29.252366+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: APTX was added\ngene: APTX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3)","entity_name":"APTX","entity_type":"gene"}]}