{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1642","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1640","results":[{"created":"2020-08-27T21:02:33.727080+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN1A was added\ngene: SCN1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SCN1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCN1A were set to Dravet syndrome","entity_name":"SCN1A","entity_type":"gene"},{"created":"2020-08-27T21:02:33.418799+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN11A was added\ngene: SCN11A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN11A were set to Episodic pain syndrome","entity_name":"SCN11A","entity_type":"gene"},{"created":"2020-08-27T21:02:33.049588+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SBDS was added\ngene: SBDS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SBDS were set to Shwachman-Bodian-Diamond syndrome","entity_name":"SBDS","entity_type":"gene"},{"created":"2020-08-27T21:02:32.745328+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SAMHD1 was added\ngene: SAMHD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome","entity_name":"SAMHD1","entity_type":"gene"},{"created":"2020-08-27T21:02:32.438560+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SALL1 was added\ngene: SALL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SALL1 were set to Townes-Brocks syndrome","entity_name":"SALL1","entity_type":"gene"},{"created":"2020-08-27T21:02:32.135437+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SACS was added\ngene: SACS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SACS were set to Spastic ataxia Charlevoix-Saguenay type","entity_name":"SACS","entity_type":"gene"},{"created":"2020-08-27T21:02:31.441975+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic for gene: RYR2","entity_name":"RYR2","entity_type":"gene"},{"created":"2020-08-27T21:02:31.135932+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RYR2 was added\ngene: RYR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2","entity_name":"RYR2","entity_type":"gene"},{"created":"2020-08-27T21:02:30.645738+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Multiminicore disease for gene: RYR1","entity_name":"RYR1","entity_type":"gene"},{"created":"2020-08-27T21:02:29.943360+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene RYR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Centronuclear myopathy for gene: RYR1","entity_name":"RYR1","entity_type":"gene"},{"created":"2020-08-27T21:02:29.636826+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RYR1 was added\ngene: RYR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RYR1 were set to Central core disease","entity_name":"RYR1","entity_type":"gene"},{"created":"2020-08-27T21:02:29.335139+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RUNX2 was added\ngene: RUNX2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RUNX2 were set to Cleidocranial dysostosis","entity_name":"RUNX2","entity_type":"gene"},{"created":"2020-08-27T21:02:29.028206+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RSPH9 was added\ngene: RSPH9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary","entity_name":"RSPH9","entity_type":"gene"},{"created":"2020-08-27T21:02:28.723784+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RSPH4A was added\ngene: RSPH4A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2020-08-27T21:02:28.419719+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RS1 was added\ngene: RS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RS1 were set to Retinoschisis, X linked","entity_name":"RS1","entity_type":"gene"},{"created":"2020-08-27T21:02:27.835217+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RRM2B was added\ngene: RRM2B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome","entity_name":"RRM2B","entity_type":"gene"},{"created":"2020-08-27T21:02:27.536326+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS6KA3 was added\ngene: RPS6KA3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome","entity_name":"RPS6KA3","entity_type":"gene"},{"created":"2020-08-27T21:02:27.223150+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS26 was added\ngene: RPS26 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS26 were set to Diamond-Blackfan anemia","entity_name":"RPS26","entity_type":"gene"},{"created":"2020-08-27T21:02:26.854072+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS24 was added\ngene: RPS24 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS24 were set to Diamond-Blackfan anemia","entity_name":"RPS24","entity_type":"gene"},{"created":"2020-08-27T21:02:26.546578+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS19 was added\ngene: RPS19 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS19 were set to Diamond-Blackfan anemia","entity_name":"RPS19","entity_type":"gene"},{"created":"2020-08-27T21:02:26.247693+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS17 was added\ngene: RPS17 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS17 were set to Diamond-Blackfan anemia","entity_name":"RPS17","entity_type":"gene"},{"created":"2020-08-27T21:02:25.718857+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS15 was added\ngene: RPS15 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPS15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS15 were set to Diamond-Blackfan anemia","entity_name":"RPS15","entity_type":"gene"},{"created":"2020-08-27T21:02:25.355179+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPL5 was added\ngene: RPL5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPL5 were set to Diamond-Blackfan anemia","entity_name":"RPL5","entity_type":"gene"},{"created":"2020-08-27T21:02:25.059562+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPL11 was added\ngene: RPL11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPL11 were set to Diamond-Blackfan anemia","entity_name":"RPL11","entity_type":"gene"},{"created":"2020-08-27T21:02:24.639272+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Joubert syndrome for gene: RPGRIP1L","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2020-08-27T21:02:24.327658+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPGRIP1L was added\ngene: RPGRIP1L was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPGRIP1L were set to Meckel syndrome","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2020-08-27T21:02:23.740960+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPGR was added\ngene: RPGR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RPGR were set to Retinitis pigmentosa","entity_name":"RPGR","entity_type":"gene"},{"created":"2020-08-27T21:02:23.318853+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene ROR2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Brachydactyly, type B1 for gene: ROR2","entity_name":"ROR2","entity_type":"gene"},{"created":"2020-08-27T21:02:22.954417+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ROR2 was added\ngene: ROR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ROR2 were set to Robinow syndrome","entity_name":"ROR2","entity_type":"gene"},{"created":"2020-08-27T21:02:22.646359+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNASEH2C was added\ngene: RNASEH2C was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2020-08-27T21:02:22.129596+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNASEH2B was added\ngene: RNASEH2B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome","entity_name":"RNASEH2B","entity_type":"gene"},{"created":"2020-08-27T21:02:21.827321+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNASEH2A was added\ngene: RNASEH2A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome","entity_name":"RNASEH2A","entity_type":"gene"},{"created":"2020-08-27T21:02:21.524688+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RMRP was added\ngene: RMRP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RMRP were set to Cartilage-hair hypoplasia","entity_name":"RMRP","entity_type":"gene"},{"created":"2020-08-27T21:02:21.049676+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Multiple endocrine neoplasia IIB for gene: RET","entity_name":"RET","entity_type":"gene"},{"created":"2020-08-27T21:02:20.745587+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RET was added\ngene: RET was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RET were set to Multiple endocrine neoplasia IIA","entity_name":"RET","entity_type":"gene"},{"created":"2020-08-27T21:02:20.223349+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: REN was added\ngene: REN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: REN were set to Renal tubular dysgenesis","entity_name":"REN","entity_type":"gene"},{"created":"2020-08-27T21:02:19.743656+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Rothmund-Thomson syndrome for gene: RECQL4","entity_name":"RECQL4","entity_type":"gene"},{"created":"2020-08-27T21:02:19.325984+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Rapadilino syndrome for gene: RECQL4","entity_name":"RECQL4","entity_type":"gene"},{"created":"2020-08-27T21:02:19.020656+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RECQL4 was added\ngene: RECQL4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RECQL4 were set to Baller-Gerold syndrome","entity_name":"RECQL4","entity_type":"gene"},{"created":"2020-08-27T21:02:18.437437+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RBM8A was added\ngene: RBM8A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RBM8A were set to Thrombocytopaenia-absent radius syndrome","entity_name":"RBM8A","entity_type":"gene"},{"created":"2020-08-27T21:02:18.141391+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RB1 was added\ngene: RB1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RB1 were set to Retinoblastoma","entity_name":"RB1","entity_type":"gene"},{"created":"2020-08-27T21:02:17.835036+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RASA1 was added\ngene: RASA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation","entity_name":"RASA1","entity_type":"gene"},{"created":"2020-08-27T21:02:17.535069+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAPSN was added\ngene: RAPSN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAPSN were set to Congenital myasthenic syndrome","entity_name":"RAPSN","entity_type":"gene"},{"created":"2020-08-27T21:02:17.046819+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Potocki-Lupski syndrome for gene: RAI1","entity_name":"RAI1","entity_type":"gene"},{"created":"2020-08-27T21:02:16.530889+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAI1 was added\ngene: RAI1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAI1 were set to Smith-Magenis syndrome","entity_name":"RAI1","entity_type":"gene"},{"created":"2020-08-27T21:02:16.228793+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAG2 was added\ngene: RAG2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAG2 were set to Omenn syndrome","entity_name":"RAG2","entity_type":"gene"},{"created":"2020-08-27T21:02:15.927207+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAG1 was added\ngene: RAG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAG1 were set to Omenn syndrome","entity_name":"RAG1","entity_type":"gene"},{"created":"2020-08-27T21:02:15.653340+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAF1 was added\ngene: RAF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAF1 were set to Noonan syndrome","entity_name":"RAF1","entity_type":"gene"},{"created":"2020-08-27T21:02:15.326397+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAB7A was added\ngene: RAB7A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAB7A were set to Charcot-Marie-Tooth disease","entity_name":"RAB7A","entity_type":"gene"},{"created":"2020-08-27T21:02:15.034160+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAB3GAP1 was added\ngene: RAB3GAP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-08-27T21:02:14.722177+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAB27A was added\ngene: RAB27A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB27A were set to Griscelli syndrome","entity_name":"RAB27A","entity_type":"gene"},{"created":"2020-08-27T21:02:14.145317+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAB23 was added\ngene: RAB23 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB23 were set to Carpenter syndrome","entity_name":"RAB23","entity_type":"gene"},{"created":"2020-08-27T21:02:13.845182+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: QDPR was added\ngene: QDPR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: QDPR were set to Dihydropteridine reductase deficiency","entity_name":"QDPR","entity_type":"gene"},{"created":"2020-08-27T21:02:13.544973+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PYGL was added\ngene: PYGL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYGL were set to Glycogen storage disease VI","entity_name":"PYGL","entity_type":"gene"},{"created":"2020-08-27T21:02:13.244989+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTS was added\ngene: PTS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A","entity_name":"PTS","entity_type":"gene"},{"created":"2020-08-27T21:02:12.945020+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAVIN1 was added\ngene: CAVIN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2020-08-27T21:02:12.653360+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTPN11 was added\ngene: PTPN11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTPN11 were set to Noonan syndrome","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-08-27T21:02:12.136936+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTH1R was added\ngene: PTH1R was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PTH1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTH1R were set to Metaphyseal chondrodysplasia","entity_name":"PTH1R","entity_type":"gene"},{"created":"2020-08-27T21:02:11.725556+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Bannayan-Riley-Ruvalcaba syndrome for gene: PTEN","entity_name":"PTEN","entity_type":"gene"},{"created":"2020-08-27T21:02:11.424395+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTEN was added\ngene: PTEN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTEN were set to Cowden disease","entity_name":"PTEN","entity_type":"gene"},{"created":"2020-08-27T21:02:11.124356+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTCH1 was added\ngene: PTCH1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTCH1 were set to Nevoid basal cell carcinoma syndrome","entity_name":"PTCH1","entity_type":"gene"},{"created":"2020-08-27T21:02:10.824593+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PSAP was added\ngene: PSAP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSAP were set to Metachromatic leukodystrophy","entity_name":"PSAP","entity_type":"gene"},{"created":"2020-08-27T21:02:10.242292+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRX was added\ngene: PRX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRX were set to Charcot-Marie-Tooth disease","entity_name":"PRX","entity_type":"gene"},{"created":"2020-08-27T21:02:09.945652+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PROS1 was added\ngene: PROS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PROS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROS1 were set to Protein S deficiency","entity_name":"PROS1","entity_type":"gene"},{"created":"2020-08-27T21:02:09.645419+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PROP1 was added\ngene: PROP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2","entity_name":"PROP1","entity_type":"gene"},{"created":"2020-08-27T21:02:09.351064+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PROKR2 was added\ngene: PROKR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism","entity_name":"PROKR2","entity_type":"gene"},{"created":"2020-08-27T21:02:09.048780+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PROC was added\ngene: PROC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency","entity_name":"PROC","entity_type":"gene"},{"created":"2020-08-27T21:02:08.745505+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRKAR1A was added\ngene: PRKAR1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRKAR1A were set to Carney complex","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2020-08-27T21:02:08.232976+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRKAG2 was added\ngene: PRKAG2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRKAG2 were set to Wolff-Parkinson-White syndrome","entity_name":"PRKAG2","entity_type":"gene"},{"created":"2020-08-27T21:02:07.932356+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRF1 was added\ngene: PRF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2","entity_name":"PRF1","entity_type":"gene"},{"created":"2020-08-27T21:02:07.634939+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PQBP1 was added\ngene: PQBP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PQBP1 were set to Mental retardation","entity_name":"PQBP1","entity_type":"gene"},{"created":"2020-08-27T21:02:07.331223+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPT1 was added\ngene: PPT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPT1 were set to Neuronal ceroid lipofuscinosis","entity_name":"PPT1","entity_type":"gene"},{"created":"2020-08-27T21:02:07.023549+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POU4F3 was added\ngene: POU4F3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: POU4F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: POU4F3 were set to Deafness, autosomal dominant","entity_name":"POU4F3","entity_type":"gene"},{"created":"2020-08-27T21:02:06.721952+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POU3F4 was added\ngene: POU3F4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: POU3F4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: POU3F4 were set to Deafness, X-linked","entity_name":"POU3F4","entity_type":"gene"},{"created":"2020-08-27T21:02:06.139258+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POU1F1 was added\ngene: POU1F1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POU1F1 were set to Pituitary hormone deficiency","entity_name":"POU1F1","entity_type":"gene"},{"created":"2020-08-27T21:02:05.840243+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PORCN was added\ngene: PORCN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PORCN were set to Focal dermal hypoplasia","entity_name":"PORCN","entity_type":"gene"},{"created":"2020-08-27T21:02:05.541088+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POR was added\ngene: POR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POR were set to Disordered steroidogenesis with and without Antley-Bixler syndrome","entity_name":"POR","entity_type":"gene"},{"created":"2020-08-27T21:02:05.240187+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POMT2 was added\ngene: POMT2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2","entity_name":"POMT2","entity_type":"gene"},{"created":"2020-08-27T21:02:04.832471+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Walker-Warburg syndrome for gene: POMT1","entity_name":"POMT1","entity_type":"gene"},{"created":"2020-08-27T21:02:04.534368+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POMT1 was added\ngene: POMT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1","entity_name":"POMT1","entity_type":"gene"},{"created":"2020-08-27T21:02:03.842935+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 for gene: POMGNT1","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2020-08-27T21:02:03.540685+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POMGNT1 was added\ngene: POMGNT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2020-08-27T21:02:03.240348+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLH was added\ngene: POLH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLH were set to Xeroderma pigmentosum","entity_name":"POLH","entity_type":"gene"},{"created":"2020-08-27T21:02:02.941230+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLG was added\ngene: POLG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLG were set to POLG-Related Ataxia Neuropathy Spectrum Disorders","entity_name":"POLG","entity_type":"gene"},{"created":"2020-08-27T21:02:02.642206+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PNPO was added\ngene: PNPO was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNPO were set to Epileptic encephalopathy, neonatal","entity_name":"PNPO","entity_type":"gene"},{"created":"2020-08-27T21:02:02.137441+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PNKP was added\ngene: PNKP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNKP were set to Microcephaly - seizures - developmental delay","entity_name":"PNKP","entity_type":"gene"},{"created":"2020-08-27T21:02:01.830742+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PNKD was added\ngene: PNKD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PNKD were set to Paroxysmal nonkinesiogenic dyskinesia","entity_name":"PNKD","entity_type":"gene"},{"created":"2020-08-27T21:02:01.524468+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PMP22 was added\ngene: PMP22 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PMP22 were set to Charcot-Marie-Tooth disease","entity_name":"PMP22","entity_type":"gene"},{"created":"2020-08-27T21:02:01.227062+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PMM2 was added\ngene: PMM2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia","entity_name":"PMM2","entity_type":"gene"},{"created":"2020-08-27T21:02:00.817445+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Spastic paraplegia 2, X-linked for gene: PLP1","entity_name":"PLP1","entity_type":"gene"},{"created":"2020-08-27T21:02:00.520519+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLP1 was added\ngene: PLP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease","entity_name":"PLP1","entity_type":"gene"},{"created":"2020-08-27T21:02:00.224178+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLOD1 was added\ngene: PLOD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLOD1 were set to Ehlers-Danlos syndrome, kyphoscoliotic type","entity_name":"PLOD1","entity_type":"gene"},{"created":"2020-08-27T21:01:59.638268+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLG was added\ngene: PLG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLG were set to Plasminogen deficiency","entity_name":"PLG","entity_type":"gene"},{"created":"2020-08-27T21:01:59.235747+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Muscular dystrophy for gene: PLEC","entity_name":"PLEC","entity_type":"gene"},{"created":"2020-08-27T21:01:58.935070+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLEC was added\ngene: PLEC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLEC were set to Epidermolysis bullosa simplex","entity_name":"PLEC","entity_type":"gene"},{"created":"2020-08-27T21:01:58.639631+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLCE1 was added\ngene: PLCE1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLCE1 were set to Nephrotic syndrome","entity_name":"PLCE1","entity_type":"gene"},{"created":"2020-08-27T21:01:58.341517+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLA2G6 was added\ngene: PLA2G6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2020-08-27T21:01:58.047820+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PKLR was added\ngene: PKLR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PKLR were set to Pyruvate kinase deficiency","entity_name":"PKLR","entity_type":"gene"},{"created":"2020-08-27T21:01:57.535038+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PKHD1 was added\ngene: PKHD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease","entity_name":"PKHD1","entity_type":"gene"},{"created":"2020-08-27T21:01:57.239561+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PKD2 was added\ngene: PKD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PKD2 were set to Polycystic kidney disease","entity_name":"PKD2","entity_type":"gene"}]}