{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=755","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=753","results":[{"created":"2022-09-19T07:33:04.088783+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NUB1 was added\ngene: NUB1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NUB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NUB1 were set to Congenital heart disease","entity_name":"NUB1","entity_type":"gene"},{"created":"2022-09-19T07:33:03.317333+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NSDHL was added\ngene: NSDHL was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene\nMode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NSDHL were set to CK syndrome; CHILD syndrome","entity_name":"NSDHL","entity_type":"gene"},{"created":"2022-09-19T07:33:02.813100+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NRXN1 was added\ngene: NRXN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NRXN1 was set to Unknown\nPhenotypes for gene: NRXN1 were set to Autism","entity_name":"NRXN1","entity_type":"gene"},{"created":"2022-09-19T07:33:02.101553+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NRG1 was added\ngene: NRG1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NRG1 were set to Hirschsprung disease","entity_name":"NRG1","entity_type":"gene"},{"created":"2022-09-19T07:33:01.482011+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NR1H4 was added\ngene: NR1H4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NR1H4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NR1H4 were set to Cholestasis, infantile","entity_name":"NR1H4","entity_type":"gene"},{"created":"2022-09-19T07:33:00.914129+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NPPA was added\ngene: NPPA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NPPA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NPPA were set to Atrial fibrillation","entity_name":"NPPA","entity_type":"gene"},{"created":"2022-09-19T07:33:00.124493+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NOTCH1 was added\ngene: NOTCH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NOTCH1 were set to Aortic valve disease","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2022-09-19T07:32:59.610764+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NOP10 was added\ngene: NOP10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NOP10 were set to Dyskeratosis congenita","entity_name":"NOP10","entity_type":"gene"},{"created":"2022-09-19T07:32:58.909387+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NME8 was added\ngene: NME8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NME8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NME8 were set to Ciliary dyskinesia, primary","entity_name":"NME8","entity_type":"gene"},{"created":"2022-09-19T07:32:58.420808+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NLRP7 was added\ngene: NLRP7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NLRP7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NLRP7 were set to Hydatidiform mole","entity_name":"NLRP7","entity_type":"gene"},{"created":"2022-09-19T07:32:57.704904+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NLGN4X was added\ngene: NLGN4X was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NLGN4X was set to Unknown\nPhenotypes for gene: NLGN4X were set to Autism","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2022-09-19T07:32:57.211675+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NLGN3 was added\ngene: NLGN3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NLGN3 was set to Unknown\nPhenotypes for gene: NLGN3 were set to Autism","entity_name":"NLGN3","entity_type":"gene"},{"created":"2022-09-19T07:32:56.508219+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NKX3-2 was added\ngene: NKX3-2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia","entity_name":"NKX3-2","entity_type":"gene"},{"created":"2022-09-19T07:32:56.009998+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NIN was added\ngene: NIN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NIN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NIN were set to Seckel syndrome","entity_name":"NIN","entity_type":"gene"},{"created":"2022-09-19T07:32:55.306617+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NHP2 was added\ngene: NHP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NHP2 were set to Dyskeratosis congenita","entity_name":"NHP2","entity_type":"gene"},{"created":"2022-09-19T07:32:54.807880+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NFATC1 was added\ngene: NFATC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NFATC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NFATC1 were set to Congenital heart disease","entity_name":"NFATC1","entity_type":"gene"},{"created":"2022-09-19T07:32:54.108385+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NEXN was added\ngene: NEXN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NEXN were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated","entity_name":"NEXN","entity_type":"gene"},{"created":"2022-09-19T07:32:53.618961+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NEDD4L was added\ngene: NEDD4L was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NEDD4L were set to Epilepsy, photosensitive generalised","entity_name":"NEDD4L","entity_type":"gene"},{"created":"2022-09-19T07:32:52.907362+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NECTIN1 was added\ngene: NECTIN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NECTIN1 were set to Cleft lip / palate","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-09-19T07:32:52.429121+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NEBL was added\ngene: NEBL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NEBL were set to Cardiomyopathy, dilated","entity_name":"NEBL","entity_type":"gene"},{"created":"2022-09-19T07:32:51.516772+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Source Expert Review Red was added to NCF4.\nSource BabySeq Category C gene was added to NCF4.\nAdded phenotypes Chronic granulomatous disease for gene: NCF4\nRating Changed from Green List (high evidence) to Red List (low evidence)","entity_name":"NCF4","entity_type":"gene"},{"created":"2022-09-19T07:32:50.994303+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAA15 was added\ngene: NAA15 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NAA15 were set to Congenital heart disease","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-09-19T07:32:50.213289+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAA10 was added\ngene: NAA10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NAA10 were set to N-terminal acetyltransferase deficiency","entity_name":"NAA10","entity_type":"gene"},{"created":"2022-09-19T07:32:49.725141+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYPN was added\ngene: MYPN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MYPN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYPN were set to Cardiomyopathy, hypertrophic; Cardiomyopathy, dilated","entity_name":"MYPN","entity_type":"gene"},{"created":"2022-09-19T07:32:49.039681+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYOZ2 was added\ngene: MYOZ2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MYOZ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYOZ2 were set to Cardiomyopathy, hypertrophic","entity_name":"MYOZ2","entity_type":"gene"},{"created":"2022-09-19T07:32:48.507495+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYOT was added\ngene: MYOT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MYOT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYOT were set to Myofibrillar myopathy","entity_name":"MYOT","entity_type":"gene"},{"created":"2022-09-19T07:32:47.803074+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYOM1 was added\ngene: MYOM1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MYOM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYOM1 were set to Cardiomyopathy, hypertrophic","entity_name":"MYOM1","entity_type":"gene"},{"created":"2022-09-19T07:32:47.305916+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYO5A was added\ngene: MYO5A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO5A were set to Griscelli syndrome","entity_name":"MYO5A","entity_type":"gene"},{"created":"2022-09-19T07:32:46.587632+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYO1F was added\ngene: MYO1F was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MYO1F was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO1F were set to Sensorineural hearing loss","entity_name":"MYO1F","entity_type":"gene"},{"created":"2022-09-19T07:32:46.090662+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYO1E was added\ngene: MYO1E was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MYO1E was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO1E were set to Focal segmental glomerulosclerosis","entity_name":"MYO1E","entity_type":"gene"},{"created":"2022-09-19T07:32:45.594461+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYO1C was added\ngene: MYO1C was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MYO1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO1C were set to Sensorineural hearing loss","entity_name":"MYO1C","entity_type":"gene"},{"created":"2022-09-19T07:32:44.810524+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYLK2 was added\ngene: MYLK2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MYLK2 was set to Unknown\nPhenotypes for gene: MYLK2 were set to Cardiomyopathy, hypertrophic","entity_name":"MYLK2","entity_type":"gene"},{"created":"2022-09-19T07:32:44.311801+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYH6 was added\ngene: MYH6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYH6 were set to Cardiomyopathy, dilated; Cardiomyopathy, familial hypertrophic; Atrial septal defect","entity_name":"MYH6","entity_type":"gene"},{"created":"2022-09-19T07:32:43.611406+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYBPC3 was added\ngene: MYBPC3 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene\nMode of inheritance for gene: MYBPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYBPC3 were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated","entity_name":"MYBPC3","entity_type":"gene"},{"created":"2022-09-19T07:32:43.116523+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MUC5B was added\ngene: MUC5B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MUC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MUC5B were set to Pulmonary fibrosis, idiopathic","entity_name":"MUC5B","entity_type":"gene"},{"created":"2022-09-19T07:32:42.434977+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTO1 was added\ngene: MTO1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTO1 were set to Hypertrophic cardiomyopathy & lactic acidosis","entity_name":"MTO1","entity_type":"gene"},{"created":"2022-09-19T07:32:41.915079+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ND6 was added\ngene: MT-ND6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL\nPhenotypes for gene: MT-ND6 were set to Leber hereditary optic neuropathy","entity_name":"MT-ND6","entity_type":"gene"},{"created":"2022-09-19T07:32:41.215419+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ND4 was added\ngene: MT-ND4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL\nPhenotypes for gene: MT-ND4 were set to Leber hereditary optic neuropathy","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2022-09-19T07:32:40.716021+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ND1 was added\ngene: MT-ND1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL\nPhenotypes for gene: MT-ND1 were set to Leber hereditary optic neuropathy","entity_name":"MT-ND1","entity_type":"gene"},{"created":"2022-09-19T07:32:40.021454+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MSRB3 was added\ngene: MSRB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MSRB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MSRB3 were set to Deafness, autosomal recessive","entity_name":"MSRB3","entity_type":"gene"},{"created":"2022-09-19T07:32:39.590038+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MSH6 was added\ngene: MSH6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MSH6 were set to Lynch syndrome","entity_name":"MSH6","entity_type":"gene"},{"created":"2022-09-19T07:32:38.888640+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MSH2 was added\ngene: MSH2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MSH2 were set to Lynch syndrome","entity_name":"MSH2","entity_type":"gene"},{"created":"2022-09-19T07:32:38.394537+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MRPS22 was added\ngene: MRPS22 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MRPS22 were set to Mitochondrial respiratory chain disorder","entity_name":"MRPS22","entity_type":"gene"},{"created":"2022-09-19T07:32:37.915053+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MRPS16 was added\ngene: MRPS16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MRPS16 were set to Mitochondrial respiratory chain disorder","entity_name":"MRPS16","entity_type":"gene"},{"created":"2022-09-19T07:32:37.198127+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MOGS was added\ngene: MOGS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOGS were set to Glucosidase 1 deficiency","entity_name":"MOGS","entity_type":"gene"},{"created":"2022-09-19T07:32:36.692118+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MLPH was added\ngene: MLPH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLPH were set to Griscelli syndrome type 3","entity_name":"MLPH","entity_type":"gene"},{"created":"2022-09-19T07:32:35.909382+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MLH1 was added\ngene: MLH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MLH1 were set to Lynch syndrome","entity_name":"MLH1","entity_type":"gene"},{"created":"2022-09-19T07:32:35.426388+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MIR96 was added\ngene: MIR96 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MIR96 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MIR96 were set to Hearing loss","entity_name":"MIR96","entity_type":"gene"},{"created":"2022-09-19T07:32:34.705935+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MIB1 was added\ngene: MIB1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MIB1 were set to Left ventricular noncompaction","entity_name":"MIB1","entity_type":"gene"},{"created":"2022-09-19T07:32:34.215460+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MESP2 was added\ngene: MESP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MESP2 were set to Spondylocostal dysostosis, autosomal recessive 2","entity_name":"MESP2","entity_type":"gene"},{"created":"2022-09-19T07:32:33.551433+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MED20 was added\ngene: MED20 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MED20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MED20 were set to Congenital heart disease","entity_name":"MED20","entity_type":"gene"},{"created":"2022-09-19T07:32:33.007099+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MED13L was added\ngene: MED13L was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MED13L were set to Transposition of great arteries","entity_name":"MED13L","entity_type":"gene"},{"created":"2022-09-19T07:32:32.307581+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCEE was added\ngene: MCEE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCEE were set to Methylmalonyl-CoA epimerase deficiency","entity_name":"MCEE","entity_type":"gene"},{"created":"2022-09-19T07:32:31.613445+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Source Expert Review Red was added to MCCC2.\nSource BabySeq Category B gene was added to MCCC2.\nAdded phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency for gene: MCCC2\nRating Changed from Green List (high evidence) to Red List (low evidence)","entity_name":"MCCC2","entity_type":"gene"},{"created":"2022-09-19T07:32:30.814589+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MATN4 was added\ngene: MATN4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MATN4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MATN4 were set to Multiple anomalies","entity_name":"MATN4","entity_type":"gene"},{"created":"2022-09-19T07:32:30.392063+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAT1A was added\ngene: MAT1A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAT1A were set to Methionine adenosyltransferase deficiency","entity_name":"MAT1A","entity_type":"gene"},{"created":"2022-09-19T07:32:29.691747+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAPT was added\ngene: MAPT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism","entity_name":"MAPT","entity_type":"gene"},{"created":"2022-09-19T07:32:29.199452+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAPK10 was added\ngene: MAPK10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: MAPK10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAPK10 were set to Epileptic encephalopathy","entity_name":"MAPK10","entity_type":"gene"},{"created":"2022-09-19T07:32:28.429264+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LYZ was added\ngene: LYZ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: LYZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LYZ were set to Amyloidosis, systemic","entity_name":"LYZ","entity_type":"gene"},{"created":"2022-09-19T07:32:27.913089+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LUM was added\ngene: LUM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: LUM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LUM were set to Amyotrophic lateral sclerosis","entity_name":"LUM","entity_type":"gene"},{"created":"2022-09-19T07:32:27.421601+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRRK2 was added\ngene: LRRK2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: LRRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LRRK2 were set to Parkinson disease","entity_name":"LRRK2","entity_type":"gene"},{"created":"2022-09-19T07:32:26.704282+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LPP was added\ngene: LPP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: LPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LPP were set to Tetralogy of Fallot","entity_name":"LPP","entity_type":"gene"},{"created":"2022-09-19T07:32:26.208428+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LPIN2 was added\ngene: LPIN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LPIN2 were set to Majeed syndrome","entity_name":"LPIN2","entity_type":"gene"},{"created":"2022-09-19T07:32:25.508813+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LMNB2 was added\ngene: LMNB2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LMNB2 were set to Lipodystrophy, partial","entity_name":"LMNB2","entity_type":"gene"},{"created":"2022-09-19T07:32:25.015076+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LHB was added\ngene: LHB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: LHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LHB were set to Hypogonadism","entity_name":"LHB","entity_type":"gene"},{"created":"2022-09-19T07:32:24.301604+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LGI1 was added\ngene: LGI1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: LGI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LGI1 were set to Epilepsy, familial temporal lobe, 1","entity_name":"LGI1","entity_type":"gene"},{"created":"2022-09-19T07:32:23.812521+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LDB3 was added\ngene: LDB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LDB3 were set to Myofibrillar myopathy","entity_name":"LDB3","entity_type":"gene"},{"created":"2022-09-19T07:32:23.108306+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LBR was added\ngene: LBR was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene\nMode of inheritance for gene: LBR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LBR were set to Pelger-Huet anomaly; Reynolds syndrome","entity_name":"LBR","entity_type":"gene"},{"created":"2022-09-19T07:32:22.607451+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LARS was added\ngene: LARS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARS were set to Infantile liver failure syndrome","entity_name":"LARS","entity_type":"gene"},{"created":"2022-09-19T07:32:22.108213+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMA4 was added\ngene: LAMA4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: LAMA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LAMA4 were set to Cardiomyopathy, dilated","entity_name":"LAMA4","entity_type":"gene"},{"created":"2022-09-19T07:32:21.407255+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KRT8 was added\ngene: KRT8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: KRT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT8 were set to Cirrhosis, cryptogenic","entity_name":"KRT8","entity_type":"gene"},{"created":"2022-09-19T07:32:20.915439+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KRT6B was added\ngene: KRT6B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: KRT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT6B were set to Pachyonychia congenita","entity_name":"KRT6B","entity_type":"gene"},{"created":"2022-09-19T07:32:20.213796+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KRT18 was added\ngene: KRT18 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: KRT18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT18 were set to Cirrhosis, cryptogenic","entity_name":"KRT18","entity_type":"gene"},{"created":"2022-09-19T07:32:19.792727+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KPTN was added\ngene: KPTN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KPTN were set to Macrocephaly, neurodevelopmental delay, and seizures","entity_name":"KPTN","entity_type":"gene"},{"created":"2022-09-19T07:32:19.090236+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF22 was added\ngene: KIF22 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIF22 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 2","entity_name":"KIF22","entity_type":"gene"},{"created":"2022-09-19T07:32:18.597673+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF1BP was added\ngene: KIF1BP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome","entity_name":"KIF1BP","entity_type":"gene"},{"created":"2022-09-19T07:32:17.893834+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF1B was added\ngene: KIF1B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIF1B were set to Charcot-Marie-Tooth disease","entity_name":"KIF1B","entity_type":"gene"},{"created":"2022-09-19T07:32:17.419424+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KDM5B was added\ngene: KDM5B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: KDM5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KDM5B were set to Congenital heart disease","entity_name":"KDM5B","entity_type":"gene"},{"created":"2022-09-19T07:32:16.899068+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNQ3 was added\ngene: KCNQ3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNQ3 were set to Epilepsy, benign neonatal","entity_name":"KCNQ3","entity_type":"gene"},{"created":"2022-09-19T07:32:15.927688+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Source Expert Review Red was added to KCNQ2.\nSource BabySeq Category C gene was added to KCNQ2.\nAdded phenotypes Epilepsy, benign neonatal for gene: KCNQ2\nRating Changed from Green List (high evidence) to Red List (low evidence)","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2022-09-19T07:32:15.197534+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNQ1OT1 was added\ngene: KCNQ1OT1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: KCNQ1OT1 was set to Unknown\nPhenotypes for gene: KCNQ1OT1 were set to Beckwith-Wiedemann syndrome","entity_name":"KCNQ1OT1","entity_type":"gene"},{"created":"2022-09-19T07:32:14.705755+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNJ8 was added\ngene: KCNJ8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNJ8 were set to Sudden infant death syndrom","entity_name":"KCNJ8","entity_type":"gene"},{"created":"2022-09-19T07:32:14.005384+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNJ5 was added\ngene: KCNJ5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNJ5 were set to Long QT syndrome","entity_name":"KCNJ5","entity_type":"gene"},{"created":"2022-09-19T07:32:13.590017+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNJ18 was added\ngene: KCNJ18 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNJ18 were set to Hypokalaemic periodic paralysis","entity_name":"KCNJ18","entity_type":"gene"},{"created":"2022-09-19T07:32:13.103501+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNE5 was added\ngene: KCNE5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: KCNE5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNE5 were set to Atrial fibrillation","entity_name":"KCNE5","entity_type":"gene"},{"created":"2022-09-19T07:32:12.428984+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNE3 was added\ngene: KCNE3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: KCNE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNE3 were set to Brugada syndrome","entity_name":"KCNE3","entity_type":"gene"},{"created":"2022-09-19T07:32:11.907984+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCND3 was added\ngene: KCND3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCND3 were set to Brugada syndrome","entity_name":"KCND3","entity_type":"gene"},{"created":"2022-09-19T07:32:11.188997+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JPH2 was added\ngene: JPH2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: JPH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: JPH2 were set to Cardiomyopathy, hypertrophic","entity_name":"JPH2","entity_type":"gene"},{"created":"2022-09-19T07:32:10.620683+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITGA7 was added\ngene: ITGA7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGA7 were set to Congenital muscular dystrophy with integrin deficiency","entity_name":"ITGA7","entity_type":"gene"},{"created":"2022-09-19T07:32:09.917535+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITGA6 was added\ngene: ITGA6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis","entity_name":"ITGA6","entity_type":"gene"},{"created":"2022-09-19T07:32:09.416992+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ISL1 was added\ngene: ISL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ISL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ISL1 were set to Diabetes, type 2","entity_name":"ISL1","entity_type":"gene"},{"created":"2022-09-19T07:32:08.994252+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ISCU was added\ngene: ISCU was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ISCU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ISCU were set to Myopathy with defiency of succinate dehydrogenase","entity_name":"ISCU","entity_type":"gene"},{"created":"2022-09-19T07:32:08.299495+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IRS1 was added\ngene: IRS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: IRS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: IRS1 were set to Diabetes mellitus, noninsulin dependent","entity_name":"IRS1","entity_type":"gene"},{"created":"2022-09-19T07:32:07.802081+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ILK was added\ngene: ILK was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ILK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ILK were set to Cardiomyopathy, dilated","entity_name":"ILK","entity_type":"gene"},{"created":"2022-09-19T07:32:06.810155+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Source Expert Review Red was added to IL10RB.\nSource BabySeq Category C gene was added to IL10RB.\nAdded phenotypes Inflammatory bowel disease for gene: IL10RB\nRating Changed from Green List (high evidence) to Red List (low evidence)","entity_name":"IL10RB","entity_type":"gene"},{"created":"2022-09-19T07:32:06.099221+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IGF1 was added\ngene: IGF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGF1 were set to Insulin-like growth factor deficiency","entity_name":"IGF1","entity_type":"gene"},{"created":"2022-09-19T07:32:05.610690+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IGBP1 was added\ngene: IGBP1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: IGBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IGBP1 were set to Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia","entity_name":"IGBP1","entity_type":"gene"},{"created":"2022-09-19T07:32:05.109914+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFT80 was added\ngene: IFT80 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT80 were set to Asphyxiating thoracic dystrophy 2","entity_name":"IFT80","entity_type":"gene"},{"created":"2022-09-19T07:32:04.411148+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFT43 was added\ngene: IFT43 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT43 were set to Cranioectodermal dysplasia","entity_name":"IFT43","entity_type":"gene"},{"created":"2022-09-19T07:32:03.916117+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFT122 was added\ngene: IFT122 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT122 were set to Cranioectodermal dysplasia","entity_name":"IFT122","entity_type":"gene"}]}