{"count":221277,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1644","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1642","results":[{"created":"2020-08-27T21:01:27.520685+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTR was added\ngene: MTR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTR were set to Methylmalonic aciduria and homocystinuria","entity_name":"MTR","entity_type":"gene"},{"created":"2020-08-27T21:01:27.024533+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTM1 was added\ngene: MTM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked","entity_name":"MTM1","entity_type":"gene"},{"created":"2020-08-27T21:01:26.735203+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MSX2 was added\ngene: MSX2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MSX2 were set to Parietal foramina 1","entity_name":"MSX2","entity_type":"gene"},{"created":"2020-08-27T21:01:26.450098+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPZ was added\ngene: MPZ was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MPZ were set to Charcot-Marie-Tooth disease","entity_name":"MPZ","entity_type":"gene"},{"created":"2020-08-27T21:01:26.231223+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPV17 was added\ngene: MPV17 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome, hepatic","entity_name":"MPV17","entity_type":"gene"},{"created":"2020-08-27T21:01:25.944283+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPL was added\ngene: MPL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPL were set to Amegakaryocytic thrombocytopaenia, congenital","entity_name":"MPL","entity_type":"gene"},{"created":"2020-08-27T21:01:25.727174+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPI was added\ngene: MPI was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPI were set to Congenital disorder of glycosylation 1b","entity_name":"MPI","entity_type":"gene"},{"created":"2020-08-27T21:01:25.440292+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MOCS2 was added\ngene: MOCS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency","entity_name":"MOCS2","entity_type":"gene"},{"created":"2020-08-27T21:01:25.222005+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MOCS1 was added\ngene: MOCS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-08-27T21:01:24.938594+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMADHC was added\ngene: MMADHC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type","entity_name":"MMADHC","entity_type":"gene"},{"created":"2020-08-27T21:01:24.658631+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMACHC was added\ngene: MMACHC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type","entity_name":"MMACHC","entity_type":"gene"},{"created":"2020-08-27T21:01:24.435792+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMAB was added\ngene: MMAB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type","entity_name":"MMAB","entity_type":"gene"},{"created":"2020-08-27T21:01:23.935127+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMAA was added\ngene: MMAA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive","entity_name":"MMAA","entity_type":"gene"},{"created":"2020-08-27T21:01:23.650227+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MLYCD was added\ngene: MLYCD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency","entity_name":"MLYCD","entity_type":"gene"},{"created":"2020-08-27T21:01:23.431232+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MLC1 was added\ngene: MLC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy","entity_name":"MLC1","entity_type":"gene"},{"created":"2020-08-27T21:01:23.145213+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MKS1 was added\ngene: MKS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKS1 were set to Meckel syndrome","entity_name":"MKS1","entity_type":"gene"},{"created":"2020-08-27T21:01:22.928693+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MKKS was added\ngene: MKKS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKKS were set to Bardet-Biedl syndrome","entity_name":"MKKS","entity_type":"gene"},{"created":"2020-08-27T21:01:22.643031+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MITF was added\ngene: MITF was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MITF were set to Waardenburg syndrome","entity_name":"MITF","entity_type":"gene"},{"created":"2020-08-27T21:01:22.427045+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MGP was added\ngene: MGP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MGP were set to Keutel syndrome","entity_name":"MGP","entity_type":"gene"},{"created":"2020-08-27T21:01:22.147973+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MFSD8 was added\ngene: MFSD8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal","entity_name":"MFSD8","entity_type":"gene"},{"created":"2020-08-27T21:01:21.924372+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MFN2 was added\ngene: MFN2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MFN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease","entity_name":"MFN2","entity_type":"gene"},{"created":"2020-08-27T21:01:21.642446+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MEN1 was added\ngene: MEN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MEN1 were set to Multiple endocrine neoplasia I","entity_name":"MEN1","entity_type":"gene"},{"created":"2020-08-27T21:01:21.423302+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MEGF10 was added\ngene: MEGF10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset","entity_name":"MEGF10","entity_type":"gene"},{"created":"2020-08-27T21:01:20.921990+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MEFV was added\ngene: MEFV was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MEFV was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MEFV were set to Mediterranean fever, familial","entity_name":"MEFV","entity_type":"gene"},{"created":"2020-08-27T21:01:20.635417+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MED12 was added\ngene: MED12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MED12 were set to Intellectual disability","entity_name":"MED12","entity_type":"gene"},{"created":"2020-08-27T21:01:20.353111+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MECP2 was added\ngene: MECP2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MECP2 were set to Rett syndrome","entity_name":"MECP2","entity_type":"gene"},{"created":"2020-08-27T21:01:20.137583+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCPH1 was added\ngene: MCPH1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive","entity_name":"MCPH1","entity_type":"gene"},{"created":"2020-08-27T21:01:19.850485+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCOLN1 was added\ngene: MCOLN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCOLN1 were set to Mucolipidosis IV","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2020-08-27T21:01:19.631715+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCFD2 was added\ngene: MCFD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCFD2 were set to Factor V and Factor VIII deficiency, combined","entity_name":"MCFD2","entity_type":"gene"},{"created":"2020-08-27T21:01:19.343284+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MBTPS2 was added\ngene: MBTPS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MBTPS2 were set to Ichthyosis follicularis, alopecia & photophobia","entity_name":"MBTPS2","entity_type":"gene"},{"created":"2020-08-27T21:01:19.132904+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MARVELD2 was added\ngene: MARVELD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MARVELD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MARVELD2 were set to Deafness, autosomal recessive","entity_name":"MARVELD2","entity_type":"gene"},{"created":"2020-08-27T21:01:18.847695+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAP2K2 was added\ngene: MAP2K2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome","entity_name":"MAP2K2","entity_type":"gene"},{"created":"2020-08-27T21:01:18.632048+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAP2K1 was added\ngene: MAP2K1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome","entity_name":"MAP2K1","entity_type":"gene"},{"created":"2020-08-27T21:01:18.347906+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAN2B1 was added\ngene: MAN2B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAN2B1 were set to Mannosidosis, alpha","entity_name":"MAN2B1","entity_type":"gene"},{"created":"2020-08-27T21:01:17.854614+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAGI2 was added\ngene: MAGI2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAGI2 were set to Infantile spasms","entity_name":"MAGI2","entity_type":"gene"},{"created":"2020-08-27T21:01:17.639955+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAFB was added\ngene: MAFB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome","entity_name":"MAFB","entity_type":"gene"},{"created":"2020-08-27T21:01:17.420373+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LYST was added\ngene: LYST was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LYST were set to Chediak-Higashi syndrome","entity_name":"LYST","entity_type":"gene"},{"created":"2020-08-27T21:01:17.138325+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LTBP4 was added\ngene: LTBP4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC","entity_name":"LTBP4","entity_type":"gene"},{"created":"2020-08-27T21:01:16.923625+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRTOMT was added\ngene: LRTOMT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LRTOMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRTOMT were set to Deafness, autosomal recessive","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2020-08-27T21:01:16.642427+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRSAM1 was added\ngene: LRSAM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LRSAM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LRSAM1 were set to Charcot-Marie-Tooth disease","entity_name":"LRSAM1","entity_type":"gene"},{"created":"2020-08-27T21:01:16.427595+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRRC6 was added\ngene: LRRC6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRRC6 were set to Primary ciliary dyskinesia","entity_name":"LRRC6","entity_type":"gene"},{"created":"2020-08-27T21:01:16.144461+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRPPRC was added\ngene: LRPPRC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRPPRC were set to Leigh syndrome","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2020-08-27T21:01:15.826069+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 LRP5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Osteopetrosis, autosomal dominant for gene: LRP5","entity_name":"LRP5","entity_type":"gene"},{"created":"2020-08-27T21:01:15.539474+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRP5 was added\ngene: LRP5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LRP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP5 were set to Osteoporosis-pseudoglioma syndrome","entity_name":"LRP5","entity_type":"gene"},{"created":"2020-08-27T21:01:15.324694+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRP4 was added\ngene: LRP4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome","entity_name":"LRP4","entity_type":"gene"},{"created":"2020-08-27T21:01:14.830138+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRP2 was added\ngene: LRP2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP2 were set to Donnai-Barrow syndrome","entity_name":"LRP2","entity_type":"gene"},{"created":"2020-08-27T21:01:14.549670+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LOXHD1 was added\ngene: LOXHD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LOXHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LOXHD1 were set to Deafness, autosomal recessive","entity_name":"LOXHD1","entity_type":"gene"},{"created":"2020-08-27T21:01:14.333653+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LMX1B was added\ngene: LMX1B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LMX1B were set to Nail patella syndrome","entity_name":"LMX1B","entity_type":"gene"},{"created":"2020-08-27T21:01:14.056552+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LMOD3 was added\ngene: LMOD3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMOD3 were set to Nemaline myopathy","entity_name":"LMOD3","entity_type":"gene"},{"created":"2020-08-27T21:01:13.725602+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 LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Charcot-Marie-Tooth disease for gene: LMNA","entity_name":"LMNA","entity_type":"gene"},{"created":"2020-08-27T21:01:13.447200+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LMNA was added\ngene: LMNA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LMNA were set to Emery-Dreifuss muscular dystrophy 2","entity_name":"LMNA","entity_type":"gene"},{"created":"2020-08-27T21:01:13.232099+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LMBRD1 was added\ngene: LMBRD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2020-08-27T21:01:12.947698+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LITAF was added\ngene: LITAF was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LITAF were set to Charcot-Marie-Tooth disease","entity_name":"LITAF","entity_type":"gene"},{"created":"2020-08-27T21:01:12.733995+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LIPA was added\ngene: LIPA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIPA were set to Wolman syndrome","entity_name":"LIPA","entity_type":"gene"},{"created":"2020-08-27T21:01:12.240634+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LIG4 was added\ngene: LIG4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIG4 were set to Severe combined immunodeficiency with sensitivity to ionizing radiation","entity_name":"LIG4","entity_type":"gene"},{"created":"2020-08-27T21:01:12.024079+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LIFR was added\ngene: LIFR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome","entity_name":"LIFR","entity_type":"gene"},{"created":"2020-08-27T21:01:11.744032+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LHX3 was added\ngene: LHX3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-08-27T21:01:11.532297+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LHFPL5 was added\ngene: LHFPL5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LHFPL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LHFPL5 were set to Deafness, autosomal recessive","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2020-08-27T21:01:11.250110+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LEPR was added\ngene: LEPR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency","entity_name":"LEPR","entity_type":"gene"},{"created":"2020-08-27T21:01:11.042569+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LDLR was added\ngene: LDLR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LDLR were set to Hypercholesterolemia","entity_name":"LDLR","entity_type":"gene"},{"created":"2020-08-27T21:01:10.822110+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LBR was added\ngene: LBR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LBR were set to Pelger-Huet anomaly","entity_name":"LBR","entity_type":"gene"},{"created":"2020-08-27T21:01:10.544267+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LARGE1 was added\ngene: LARGE1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARGE1 were set to Walker-Warburg syndrome","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-08-27T21:01:10.327328+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMP2 was added\ngene: LAMP2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: LAMP2 were set to Danon disease","entity_name":"LAMP2","entity_type":"gene"},{"created":"2020-08-27T21:01:10.055629+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMC2 was added\ngene: LAMC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional","entity_name":"LAMC2","entity_type":"gene"},{"created":"2020-08-27T21:01:09.833522+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMB3 was added\ngene: LAMB3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional","entity_name":"LAMB3","entity_type":"gene"},{"created":"2020-08-27T21:01:09.553928+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMB2 was added\ngene: LAMB2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMB2 were set to Pierson syndrome","entity_name":"LAMB2","entity_type":"gene"},{"created":"2020-08-27T21:01:09.335152+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMA3 was added\ngene: LAMA3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional","entity_name":"LAMA3","entity_type":"gene"},{"created":"2020-08-27T21:01:09.121952+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMA2 was added\ngene: LAMA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-27T21:01:08.627177+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: L1CAM was added\ngene: L1CAM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: L1CAM were set to X-linked hydrocephalus syndrome","entity_name":"L1CAM","entity_type":"gene"},{"created":"2020-08-27T21:01:08.346196+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KRT6A was added\ngene: KRT6A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT6A were set to Pachyonychia congenita","entity_name":"KRT6A","entity_type":"gene"},{"created":"2020-08-27T21:01:08.131816+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KRT5 was added\ngene: KRT5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex","entity_name":"KRT5","entity_type":"gene"},{"created":"2020-08-27T21:01:07.852012+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KRT17 was added\ngene: KRT17 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KRT17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT17 were set to Pachyonychia congenita","entity_name":"KRT17","entity_type":"gene"},{"created":"2020-08-27T21:01:07.638139+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KRT16 was added\ngene: KRT16 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT16 were set to Pachyonychia congenita","entity_name":"KRT16","entity_type":"gene"},{"created":"2020-08-27T21:01:07.418670+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KRT14 was added\ngene: KRT14 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-08-27T21:01:07.144458+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KRAS was added\ngene: KRAS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRAS were set to Noonan syndrome","entity_name":"KRAS","entity_type":"gene"},{"created":"2020-08-27T21:01:06.931114+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KMT2D was added\ngene: KMT2D was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KMT2D were set to Kabuki syndrome 1","entity_name":"KMT2D","entity_type":"gene"},{"created":"2020-08-27T21:01:06.652914+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KLHL41 was added\ngene: KLHL41 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KLHL41 were set to Nemaline myopathy","entity_name":"KLHL41","entity_type":"gene"},{"created":"2020-08-27T21:01:06.435116+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KLHL40 was added\ngene: KLHL40 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KLHL40 were set to Nemaline myopathy","entity_name":"KLHL40","entity_type":"gene"},{"created":"2020-08-27T21:01:06.224412+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIT was added\ngene: KIT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIT were set to Piebaldism","entity_name":"KIT","entity_type":"gene"},{"created":"2020-08-27T21:01:05.942135+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF21A was added\ngene: KIF21A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital","entity_name":"KIF21A","entity_type":"gene"},{"created":"2020-08-27T21:01:05.735269+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KDM6A was added\ngene: KDM6A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: KDM6A were set to Kabuki syndrome 2","entity_name":"KDM6A","entity_type":"gene"},{"created":"2020-08-27T21:01:05.453687+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCTD7 was added\ngene: KCTD7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic","entity_name":"KCTD7","entity_type":"gene"},{"created":"2020-08-27T21:01:05.242158+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNQ4 was added\ngene: KCNQ4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KCNQ4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNQ4 were set to Deafness, autosomal dominant","entity_name":"KCNQ4","entity_type":"gene"},{"created":"2020-08-27T21:01:05.028576+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNQ1 was added\ngene: KCNQ1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNQ1 were set to Jervell and Lange-Nielsen syndrome","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2020-08-27T21:01:04.529481+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNJ2 was added\ngene: KCNJ2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNJ2 were set to Andersen cardiodysrhythmic periodic paralysis","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2020-08-27T21:01:04.250956+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNJ11 was added\ngene: KCNJ11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2020-08-27T21:01:04.046739+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNJ1 was added\ngene: KCNJ1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ1 were set to Bartter syndrome","entity_name":"KCNJ1","entity_type":"gene"},{"created":"2020-08-27T21:01:03.756315+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNE1 was added\ngene: KCNE1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNE1 were set to Jervell and Lange-Nielsen syndrome","entity_name":"KCNE1","entity_type":"gene"},{"created":"2020-08-27T21:01:03.541299+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNA1 was added\ngene: KCNA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNA1 were set to Episodic ataxia type 1","entity_name":"KCNA1","entity_type":"gene"},{"created":"2020-08-27T21:01:03.326487+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KBTBD13 was added\ngene: KBTBD13 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KBTBD13 were set to Nemaline myopathy","entity_name":"KBTBD13","entity_type":"gene"},{"created":"2020-08-27T21:01:03.053801+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KAT6B was added\ngene: KAT6B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KAT6B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KAT6B were set to Genitopatellar syndrome","entity_name":"KAT6B","entity_type":"gene"},{"created":"2020-08-27T21:01:02.833923+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KANSL1 was added\ngene: KANSL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome","entity_name":"KANSL1","entity_type":"gene"},{"created":"2020-08-27T21:01:02.555358+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JUP was added\ngene: JUP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JUP were set to Naxos disease","entity_name":"JUP","entity_type":"gene"},{"created":"2020-08-27T21:01:02.342865+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JAK3 was added\ngene: JAK3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type","entity_name":"JAK3","entity_type":"gene"},{"created":"2020-08-27T21:01:02.131679+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JAG1 was added\ngene: JAG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: JAG1 were set to Alagille syndrome","entity_name":"JAG1","entity_type":"gene"},{"created":"2020-08-27T21:01:01.849136+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IVD was added\ngene: IVD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IVD were set to Isovaleric acidemia","entity_name":"IVD","entity_type":"gene"},{"created":"2020-08-27T21:01:01.629530+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITGB4 was added\ngene: ITGB4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia","entity_name":"ITGB4","entity_type":"gene"},{"created":"2020-08-27T21:01:01.351541+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ISPD was added\ngene: ISPD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-08-27T21:01:01.128805+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IRF6 was added\ngene: IRF6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: IRF6 were set to van der Woude syndrome","entity_name":"IRF6","entity_type":"gene"},{"created":"2020-08-27T21:01:00.847954+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IQCB1 was added\ngene: IQCB1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5","entity_name":"IQCB1","entity_type":"gene"}]}