{"count":221292,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1651","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1649","results":[{"created":"2020-08-27T20:02:31.632192+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CREBBP was added\ngene: CREBBP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome","entity_name":"CREBBP","entity_type":"gene"},{"created":"2020-08-27T20:02:31.443362+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CPT2 was added\ngene: CPT2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT2 were set to Carnitine palmitoyltransferase 2 deficiency","entity_name":"CPT2","entity_type":"gene"},{"created":"2020-08-27T20:02:31.258401+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CPT1A was added\ngene: CPT1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT1A were set to Carnitine palmitoyltransferase I deficiency","entity_name":"CPT1A","entity_type":"gene"},{"created":"2020-08-27T20:02:31.131102+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CPS1 was added\ngene: CPS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency","entity_name":"CPS1","entity_type":"gene"},{"created":"2020-08-27T20:02:30.945165+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COLQ was added\ngene: COLQ was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COLQ were set to Congenital myasthenic syndrome","entity_name":"COLQ","entity_type":"gene"},{"created":"2020-08-27T20:02:30.817443+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL7A1 was added\ngene: COL7A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL7A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica","entity_name":"COL7A1","entity_type":"gene"},{"created":"2020-08-27T20:02:30.636524+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL6A3 was added\ngene: COL6A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A3 were set to Ullrich congenital muscular dystrophy","entity_name":"COL6A3","entity_type":"gene"},{"created":"2020-08-27T20:02:30.446979+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL6A2 was added\ngene: COL6A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL6A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy","entity_name":"COL6A2","entity_type":"gene"},{"created":"2020-08-27T20:02:30.321915+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL6A1 was added\ngene: COL6A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy","entity_name":"COL6A1","entity_type":"gene"},{"created":"2020-08-27T20:02:30.135864+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL5A2 was added\ngene: COL5A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome","entity_name":"COL5A2","entity_type":"gene"},{"created":"2020-08-27T20:02:29.943535+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL5A1 was added\ngene: COL5A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, type I","entity_name":"COL5A1","entity_type":"gene"},{"created":"2020-08-27T20:02:29.818817+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL4A5 was added\ngene: COL4A5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: COL4A5 were set to Alport syndrome","entity_name":"COL4A5","entity_type":"gene"},{"created":"2020-08-27T20:02:29.633163+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL4A4 was added\ngene: COL4A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL4A4 were set to Alport syndrome","entity_name":"COL4A4","entity_type":"gene"},{"created":"2020-08-27T20:02:29.448932+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL4A3 was added\ngene: COL4A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL4A3 were set to Alport syndrome","entity_name":"COL4A3","entity_type":"gene"},{"created":"2020-08-27T20:02:29.324388+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL3A1 was added\ngene: COL3A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, type IV","entity_name":"COL3A1","entity_type":"gene"},{"created":"2020-08-27T20:02:29.139593+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL2A1 was added\ngene: COL2A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL2A1 were set to Stickler syndrome","entity_name":"COL2A1","entity_type":"gene"},{"created":"2020-08-27T20:02:28.954058+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL1A2 was added\ngene: COL1A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL1A2 were set to Osteogenesis imperfecta, type II","entity_name":"COL1A2","entity_type":"gene"},{"created":"2020-08-27T20:02:28.830899+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL1A1 was added\ngene: COL1A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL1A1 were set to Osteogenesis imperfecta, type I","entity_name":"COL1A1","entity_type":"gene"},{"created":"2020-08-27T20:02:28.645671+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL17A1 was added\ngene: COL17A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type","entity_name":"COL17A1","entity_type":"gene"},{"created":"2020-08-27T20:02:28.522408+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL11A2 was added\ngene: COL11A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL11A2 were set to Otospondylomegaepiphyseal dysplasia","entity_name":"COL11A2","entity_type":"gene"},{"created":"2020-08-27T20:02:28.338447+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL11A1 was added\ngene: COL11A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL11A1 were set to Stickler syndrome","entity_name":"COL11A1","entity_type":"gene"},{"created":"2020-08-27T20:02:28.155532+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COCH was added\ngene: COCH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COCH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COCH were set to Deafness, non-syndromic, autosomal dominant","entity_name":"COCH","entity_type":"gene"},{"created":"2020-08-27T20:02:28.036429+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CNGB3 was added\ngene: CNGB3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNGB3 were set to Achromatopsia-3","entity_name":"CNGB3","entity_type":"gene"},{"created":"2020-08-27T20:02:27.847847+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLRN1 was added\ngene: CLRN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLRN1 were set to Usher syndrome, type 3A","entity_name":"CLRN1","entity_type":"gene"},{"created":"2020-08-27T20:02:27.726509+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLN8 was added\ngene: CLN8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8","entity_name":"CLN8","entity_type":"gene"},{"created":"2020-08-27T20:02:27.543736+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLN6 was added\ngene: CLN6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, 6","entity_name":"CLN6","entity_type":"gene"},{"created":"2020-08-27T20:02:27.354624+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLN5 was added\ngene: CLN5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5","entity_name":"CLN5","entity_type":"gene"},{"created":"2020-08-27T20:02:27.232559+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLN3 was added\ngene: CLN3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3","entity_name":"CLN3","entity_type":"gene"},{"created":"2020-08-27T20:02:27.069127+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLDN19 was added\ngene: CLDN19 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement","entity_name":"CLDN19","entity_type":"gene"},{"created":"2020-08-27T20:02:26.927452+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLDN14 was added\ngene: CLDN14 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CLDN14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLDN14 were set to Hearing loss, non-syndromic, autosomal recessive","entity_name":"CLDN14","entity_type":"gene"},{"created":"2020-08-27T20:02:26.530779+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLCN5 was added\ngene: CLCN5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CLCN5 were set to Dent disease","entity_name":"CLCN5","entity_type":"gene"},{"created":"2020-08-27T20:02:26.348576+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRNG was added\ngene: CHRNG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNG were set to Pterygium syndrome","entity_name":"CHRNG","entity_type":"gene"},{"created":"2020-08-27T20:02:26.227875+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRNE was added\ngene: CHRNE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNE were set to Congenital myasthenic syndrome","entity_name":"CHRNE","entity_type":"gene"},{"created":"2020-08-27T20:02:26.047918+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRND was added\ngene: CHRND was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRND were set to Congenital myasthenic syndrome","entity_name":"CHRND","entity_type":"gene"},{"created":"2020-08-27T20:02:25.923056+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRNA1 was added\ngene: CHRNA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNA1 were set to Congenital myasthenic syndrome","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2020-08-27T20:02:25.738161+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHM was added\ngene: CHM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CHM were set to Choroideremia","entity_name":"CHM","entity_type":"gene"},{"created":"2020-08-27T20:02:25.618799+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHKB was added\ngene: CHKB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type","entity_name":"CHKB","entity_type":"gene"},{"created":"2020-08-27T20:02:25.436724+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHD7 was added\ngene: CHD7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHD7 were set to CHARGE syndrome","entity_name":"CHD7","entity_type":"gene"},{"created":"2020-08-27T20:02:25.251910+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHD2 was added\ngene: CHD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHD2 were set to Developmental delay, intellectual disability, epilepsy","entity_name":"CHD2","entity_type":"gene"},{"created":"2020-08-27T20:02:25.127217+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHAT was added\ngene: CHAT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHAT were set to Congenital myasthenic syndrome","entity_name":"CHAT","entity_type":"gene"},{"created":"2020-08-27T20:02:24.946064+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CFTR was added\ngene: CFTR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFTR were set to Cystic fibrosis","entity_name":"CFTR","entity_type":"gene"},{"created":"2020-08-27T20:02:24.824278+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CFP was added\ngene: CFP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CFP were set to Properdin deficiency, X-linked","entity_name":"CFP","entity_type":"gene"},{"created":"2020-08-27T20:02:24.645200+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CFL2 was added\ngene: CFL2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFL2 were set to Nemaline myopathy","entity_name":"CFL2","entity_type":"gene"},{"created":"2020-08-27T20:02:24.523230+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CFC1 was added\ngene: CFC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CFC1 were set to Congenital heart defects","entity_name":"CFC1","entity_type":"gene"},{"created":"2020-08-27T20:02:24.342594+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP290 was added\ngene: CEP290 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP290 were set to Joubert syndrome","entity_name":"CEP290","entity_type":"gene"},{"created":"2020-08-27T20:02:24.224350+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP152 was added\ngene: CEP152 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP152 were set to Seckel syndrome","entity_name":"CEP152","entity_type":"gene"},{"created":"2020-08-27T20:02:24.046160+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDSN was added\ngene: CDSN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDSN were set to Hypotrichosis","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-08-27T20:02:23.921761+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDKN1C was added\ngene: CDKN1C was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2020-08-27T20:02:23.742961+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDKL5 was added\ngene: CDKL5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CDKL5 were set to Epileptic encephalopathy, early infantile, 2","entity_name":"CDKL5","entity_type":"gene"},{"created":"2020-08-27T20:02:23.549492+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Usher syndrome, type 1D for gene: CDH23","entity_name":"CDH23","entity_type":"gene"},{"created":"2020-08-27T20:02:23.430840+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDH23 was added\ngene: CDH23 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDH23 were set to Deafness, autosomal recessive","entity_name":"CDH23","entity_type":"gene"},{"created":"2020-08-27T20:02:23.249666+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDAN1 was added\ngene: CDAN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDAN1 were set to Anemia, congenital dyserythropoietic, type I","entity_name":"CDAN1","entity_type":"gene"},{"created":"2020-08-27T20:02:23.134219+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CD40LG was added\ngene: CD40LG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM","entity_name":"CD40LG","entity_type":"gene"},{"created":"2020-08-27T20:02:22.958725+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC40 was added\ngene: CCDC40 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC40 were set to Primary ciliary dyskinesia","entity_name":"CCDC40","entity_type":"gene"},{"created":"2020-08-27T20:02:22.834682+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC39 was added\ngene: CCDC39 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC39 were set to Primary ciliary dyskinesia","entity_name":"CCDC39","entity_type":"gene"},{"created":"2020-08-27T20:02:22.655629+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CC2D2A was added\ngene: CC2D2A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CC2D2A were set to Joubert syndrome","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2020-08-27T20:02:22.539456+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CBS was added\ngene: CBS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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","entity_name":"CBS","entity_type":"gene"},{"created":"2020-08-27T20:02:22.417440+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CBL was added\ngene: CBL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia","entity_name":"CBL","entity_type":"gene"},{"created":"2020-08-27T20:02:22.230441+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Caveolinopathy for gene: CAV3","entity_name":"CAV3","entity_type":"gene"},{"created":"2020-08-27T20:02:22.059648+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAV3 was added\ngene: CAV3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CAV3 were set to Muscular dystrophy, limb-girdle, type IC,","entity_name":"CAV3","entity_type":"gene"},{"created":"2020-08-27T20:02:21.935240+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CASQ2 was added\ngene: CASQ2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic","entity_name":"CASQ2","entity_type":"gene"},{"created":"2020-08-27T20:02:21.752788+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CASK was added\ngene: CASK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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 and microcephaly with pontine and cerebellar hypoplasia","entity_name":"CASK","entity_type":"gene"},{"created":"2020-08-27T20:02:21.631186+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAPN3 was added\ngene: CAPN3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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","entity_name":"CAPN3","entity_type":"gene"},{"created":"2020-08-27T20:02:21.458407+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CACNA1F was added\ngene: CACNA1F was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CACNA1F were set to Night blindness, congenital stationary (complete), 1A, X-linked","entity_name":"CACNA1F","entity_type":"gene"},{"created":"2020-08-27T20:02:21.341457+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CACNA1A was added\ngene: CACNA1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CACNA1A were set to Episodic ataxia, type 2","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2020-08-27T20:02:21.154783+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CA2 was added\ngene: CA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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","entity_name":"CA2","entity_type":"gene"},{"created":"2020-08-27T20:02:21.040531+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TWNK was added\ngene: TWNK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TWNK were set to Spinocerebellar ataxia infantile-onset","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-08-27T20:02:20.918717+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BTK was added\ngene: BTK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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, X-linked 1","entity_name":"BTK","entity_type":"gene"},{"created":"2020-08-27T20:02:20.742461+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BTD was added\ngene: BTD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BTD were set to Biotinidase deficiency","entity_name":"BTD","entity_type":"gene"},{"created":"2020-08-27T20:02:20.623146+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BSND was added\ngene: BSND was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BSND were set to Bartter syndrome with sensorineural deafness","entity_name":"BSND","entity_type":"gene"},{"created":"2020-08-27T20:02:20.443459+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BSCL2 was added\ngene: BSCL2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BSCL2 were set to Berardinelli-Seip lipodystrophy","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-08-27T20:02:20.323219+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BRCA2 was added\ngene: BRCA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1","entity_name":"BRCA2","entity_type":"gene"},{"created":"2020-08-27T20:02:20.148306+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BRAF was added\ngene: BRAF was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-08-27T20:02:20.032913+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BMPR1A was added\ngene: BMPR1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BMPR1A were set to Juvenile polyposis syndrome","entity_name":"BMPR1A","entity_type":"gene"},{"created":"2020-08-27T20:02:19.848925+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BLM was added\ngene: BLM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BLM were set to Bloom syndrome","entity_name":"BLM","entity_type":"gene"},{"created":"2020-08-27T20:02:19.736449+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BIN1 was added\ngene: BIN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive","entity_name":"BIN1","entity_type":"gene"},{"created":"2020-08-27T20:02:19.561871+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BICD2 was added\ngene: BICD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BICD2 were set to Congenital spinal muscular atrophy","entity_name":"BICD2","entity_type":"gene"},{"created":"2020-08-27T20:02:19.438190+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCS1L was added\ngene: BCS1L was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCS1L were set to Complex 3 deficiency","entity_name":"BCS1L","entity_type":"gene"},{"created":"2020-08-27T20:02:19.322002+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCKDHB was added\ngene: BCKDHB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHB were set to Maple syrup urine disease","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2020-08-27T20:02:19.148258+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCKDHA was added\ngene: BCKDHA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHA were set to Maple syrup urine disease","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2020-08-27T20:02:19.033628+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS9 was added\ngene: BBS9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS9 were set to Bardet-Biedl syndrome","entity_name":"BBS9","entity_type":"gene"},{"created":"2020-08-27T20:02:18.858050+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS7 was added\ngene: BBS7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS7 were set to Bardet-Biedl syndrome","entity_name":"BBS7","entity_type":"gene"},{"created":"2020-08-27T20:02:18.741535+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS5 was added\ngene: BBS5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS5 were set to Bardet-Biedl syndrome","entity_name":"BBS5","entity_type":"gene"},{"created":"2020-08-27T20:02:18.624615+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS4 was added\ngene: BBS4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS4 were set to Bardet-Biedl syndrome","entity_name":"BBS4","entity_type":"gene"},{"created":"2020-08-27T20:02:18.449242+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS2 was added\ngene: BBS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS2 were set to Bardet-Biedl syndrome","entity_name":"BBS2","entity_type":"gene"},{"created":"2020-08-27T20:02:18.336304+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS12 was added\ngene: BBS12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS12 were set to Bardet-Biedl syndrome","entity_name":"BBS12","entity_type":"gene"},{"created":"2020-08-27T20:02:18.217443+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS10 was added\ngene: BBS10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS10 were set to Bardet-Biedl syndrome","entity_name":"BBS10","entity_type":"gene"},{"created":"2020-08-27T20:02:18.050280+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS1 was added\ngene: BBS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS1 were set to Bardet-Biedl syndrome","entity_name":"BBS1","entity_type":"gene"},{"created":"2020-08-27T20:02:17.929772+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BAAT was added\ngene: BAAT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BAAT were set to Bile acid amidation defect","entity_name":"BAAT","entity_type":"gene"},{"created":"2020-08-27T20:02:17.753741+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: B3GLCT was added\ngene: B3GLCT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GLCT were set to Peters-Plus syndrome","entity_name":"B3GLCT","entity_type":"gene"},{"created":"2020-08-27T20:02:17.639906+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AVPR2 was added\ngene: AVPR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AVPR2 were set to Diabetes insipidus, nephrogenic","entity_name":"AVPR2","entity_type":"gene"},{"created":"2020-08-27T20:02:17.523076+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AUH was added\ngene: AUH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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","entity_name":"AUH","entity_type":"gene"},{"created":"2020-08-27T20:02:17.351898+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATRX was added\ngene: ATRX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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 Alpha-thalassemia/mental retardation syndrome","entity_name":"ATRX","entity_type":"gene"},{"created":"2020-08-27T20:02:17.236020+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP8B1 was added\ngene: ATP8B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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","entity_name":"ATP8B1","entity_type":"gene"},{"created":"2020-08-27T20:02:17.121919+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP7B was added\ngene: ATP7B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP7B were set to Wilson disease","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-08-27T20:02:16.941778+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Occipital horn syndrome for gene: ATP7A","entity_name":"ATP7A","entity_type":"gene"},{"created":"2020-08-27T20:02:16.826950+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP7A was added\ngene: ATP7A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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 syndrome","entity_name":"ATP7A","entity_type":"gene"},{"created":"2020-08-27T20:02:16.654454+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP6V1B1 was added\ngene: ATP6V1B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis & hearing loss","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2020-08-27T20:02:16.538990+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP6V0A2 was added\ngene: ATP6V0A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-08-27T20:02:16.424292+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP2A1 was added\ngene: ATP2A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP2A1 were set to Brody myopathy","entity_name":"ATP2A1","entity_type":"gene"}]}