{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=760","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=758","results":[{"created":"2022-09-19T07:28:30.213524+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPINK5 was added\ngene: SPINK5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPINK5 were set to Netherton syndrome 1; Netherton syndrome","entity_name":"SPINK5","entity_type":"gene"},{"created":"2022-09-19T07:28:29.889970+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPEG was added\ngene: SPEG was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPEG were set to 26578207; 25087613; 30157964; 29614691; 28624463; 30412272; 31625632; 29474540\nPhenotypes for gene: SPEG were set to Centronuclear myopathy 5, MIM# 615959","entity_name":"SPEG","entity_type":"gene"},{"created":"2022-09-19T07:28:29.302801+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SP110 was added\ngene: SP110 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency","entity_name":"SP110","entity_type":"gene"},{"created":"2022-09-19T07:28:28.950043+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SOX9 was added\ngene: SOX9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SOX9 were set to Campomelic dysplasia","entity_name":"SOX9","entity_type":"gene"},{"created":"2022-09-19T07:28:28.597236+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SOX10 was added\ngene: SOX10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SOX10 were set to Shah-Waardenburg syndrome","entity_name":"SOX10","entity_type":"gene"},{"created":"2022-09-19T07:28:28.010633+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SNAP25 was added\ngene: SNAP25 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SNAP25 were set to Myasthenic syndrome, congenital, 18, MIM# 616330","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-09-19T07:28:27.690014+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMPX was added\ngene: SMPX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SMPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SMPX were set to Deafness, X-linked","entity_name":"SMPX","entity_type":"gene"},{"created":"2022-09-19T07:28:27.303263+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMPD1 was added\ngene: SMPD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMPD1 were set to Niemann-Pick disease, type B; Niemann-Pick disease, type A","entity_name":"SMPD1","entity_type":"gene"},{"created":"2022-09-19T07:28:26.705905+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMN1 was added\ngene: SMN1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMN1 were set to Spinal muscular atrophy type 1, 253300; Spinal muscular atrophy type 2, 253550; Spinal muscular atrophy type 3, 253400","entity_name":"SMN1","entity_type":"gene"},{"created":"2022-09-19T07:28:26.390251+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMC1A was added\ngene: SMC1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SMC1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMC1A were set to Cornelia de Lange syndrome","entity_name":"SMC1A","entity_type":"gene"},{"created":"2022-09-19T07:28:25.999491+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMARCAL1 was added\ngene: SMARCAL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia","entity_name":"SMARCAL1","entity_type":"gene"},{"created":"2022-09-19T07:28:25.688420+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMAD4 was added\ngene: SMAD4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD4 were set to Juvenile polyposis syndrome","entity_name":"SMAD4","entity_type":"gene"},{"created":"2022-09-19T07:28:25.098901+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMAD3 was added\ngene: SMAD3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome","entity_name":"SMAD3","entity_type":"gene"},{"created":"2022-09-19T07:28:24.714595+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLX4 was added\ngene: SLX4 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLX4 were set to Fanconi anaemia, complementation group P, MIM# 613951","entity_name":"SLX4","entity_type":"gene"},{"created":"2022-09-19T07:28:24.402658+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLCO2A1 was added\ngene: SLCO2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLCO2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SLCO2A1 were set to 22331663; 27134495; 33852188; 23509104\nPhenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100","entity_name":"SLCO2A1","entity_type":"gene"},{"created":"2022-09-19T07:28:23.809659+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC9A6 was added\ngene: SLC9A6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC9A6 were set to Christianson syndrome","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2022-09-19T07:28:23.502280+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC7A9 was added\ngene: SLC7A9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC7A9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC7A9 were set to Cystinuria","entity_name":"SLC7A9","entity_type":"gene"},{"created":"2022-09-19T07:28:23.189790+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC7A7 was added\ngene: SLC7A7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2022-09-19T07:28:22.598856+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC6A8 was added\ngene: SLC6A8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC6A8 were set to Creatine deficiency syndrome, X-linked","entity_name":"SLC6A8","entity_type":"gene"},{"created":"2022-09-19T07:28:22.228795+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC6A5 was added\ngene: SLC6A5 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC6A5 were set to Hyperekplexia 3, MIM#614618","entity_name":"SLC6A5","entity_type":"gene"},{"created":"2022-09-19T07:28:21.888671+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC6A19 was added\ngene: SLC6A19 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: SLC6A19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC6A19 were set to Hartnup disorder, MIM # 234500","entity_name":"SLC6A19","entity_type":"gene"},{"created":"2022-09-19T07:28:21.492397+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC52A3 was added\ngene: SLC52A3 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530; Fazio-Londe disease, MIM#211500","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2022-09-19T07:28:20.904837+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC52A2 was added\ngene: SLC52A2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2022-09-19T07:28:20.510188+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC5A5 was added\ngene: SLC5A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC5A5 were set to Thyroid dyshormonogenesis 1","entity_name":"SLC5A5","entity_type":"gene"},{"created":"2022-09-19T07:28:20.196968+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC5A2 was added\ngene: SLC5A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC5A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC5A2 were set to Renal glucosuria","entity_name":"SLC5A2","entity_type":"gene"},{"created":"2022-09-19T07:28:19.613022+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC5A1 was added\ngene: SLC5A1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption, MIM# 606824","entity_name":"SLC5A1","entity_type":"gene"},{"created":"2022-09-19T07:28:19.293723+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC4A11 was added\ngene: SLC4A11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC4A11 were set to Corneal endothelial dystrophy","entity_name":"SLC4A11","entity_type":"gene"},{"created":"2022-09-19T07:28:18.916574+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC4A1 was added\ngene: SLC4A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC4A1 were set to Spherocytosis","entity_name":"SLC4A1","entity_type":"gene"},{"created":"2022-09-19T07:28:18.400781+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC46A1 was added\ngene: SLC46A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, MIM#","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2022-09-19T07:28:18.016210+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC45A2 was added\ngene: SLC45A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC45A2 were set to Oculocutaneous albinism, type IV","entity_name":"SLC45A2","entity_type":"gene"},{"created":"2022-09-19T07:28:17.700646+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC3A1 was added\ngene: SLC3A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC3A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC3A1 were set to Cystinuria","entity_name":"SLC3A1","entity_type":"gene"},{"created":"2022-09-19T07:28:17.311989+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC39A8 was added\ngene: SLC39A8 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn , MIM#16721","entity_name":"SLC39A8","entity_type":"gene"},{"created":"2022-09-19T07:28:16.799825+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC39A4 was added\ngene: SLC39A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica","entity_name":"SLC39A4","entity_type":"gene"},{"created":"2022-09-19T07:28:16.490833+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC37A4 was added\ngene: SLC37A4 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib, MIM#232220","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2022-09-19T07:28:16.103303+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC35D1 was added\ngene: SLC35D1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2022-09-19T07:28:15.503425+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC34A3 was added\ngene: SLC34A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria","entity_name":"SLC34A3","entity_type":"gene"},{"created":"2022-09-19T07:28:15.191483+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC34A2 was added\ngene: SLC34A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC34A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC34A2 were set to Pulmonary alveolar microlithiasis","entity_name":"SLC34A2","entity_type":"gene"},{"created":"2022-09-19T07:28:14.807970+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC2A10 was added\ngene: SLC2A10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome","entity_name":"SLC2A10","entity_type":"gene"},{"created":"2022-09-19T07:28:14.498980+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC2A1 was added\ngene: SLC2A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC2A1 were set to GLUT1 deficiency syndrome 2, childhood onset, 612126; {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2022-09-19T07:28:13.907544+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC27A4 was added\ngene: SLC27A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome","entity_name":"SLC27A4","entity_type":"gene"},{"created":"2022-09-19T07:28:13.595852+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC26A4 was added\ngene: SLC26A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC26A4 were set to Pendred syndrome","entity_name":"SLC26A4","entity_type":"gene"},{"created":"2022-09-19T07:28:13.212977+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC26A3 was added\ngene: SLC26A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC26A3 were set to Chloride diarrhea, congenital, Finnish type","entity_name":"SLC26A3","entity_type":"gene"},{"created":"2022-09-19T07:28:12.694664+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC26A2 was added\ngene: SLC26A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC26A2 were set to Achondrogenesis 1B","entity_name":"SLC26A2","entity_type":"gene"},{"created":"2022-09-19T07:28:12.317266+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A4 was added\ngene: SLC25A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC25A4 were set to Progressive external ophthalmoplegia","entity_name":"SLC25A4","entity_type":"gene"},{"created":"2022-09-19T07:28:11.998509+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A38 was added\ngene: SLC25A38 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive","entity_name":"SLC25A38","entity_type":"gene"},{"created":"2022-09-19T07:28:11.413291+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A20 was added\ngene: SLC25A20 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency, MIM#212138","entity_name":"SLC25A20","entity_type":"gene"},{"created":"2022-09-19T07:28:11.010396+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A15 was added\ngene: SLC25A15 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970","entity_name":"SLC25A15","entity_type":"gene"},{"created":"2022-09-19T07:28:10.621089+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A13 was added\ngene: SLC25A13 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A13 were set to Citrullinemia, MIM#605814","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2022-09-19T07:28:10.299808+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A1 was added\ngene: SLC25A1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596","entity_name":"SLC25A1","entity_type":"gene"},{"created":"2022-09-19T07:28:09.711155+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC22A5 was added\ngene: SLC22A5 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, MIM#212140","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2022-09-19T07:28:09.394685+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC19A3 was added\ngene: SLC19A3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC19A3 were set to Basal ganglia disease, biotin-responsive, MIM#607483","entity_name":"SLC19A3","entity_type":"gene"},{"created":"2022-09-19T07:28:09.004043+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC19A2 was added\ngene: SLC19A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome","entity_name":"SLC19A2","entity_type":"gene"},{"created":"2022-09-19T07:28:08.426123+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC18A3 was added\ngene: SLC18A3 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, MIM#\t617239","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2022-09-19T07:28:08.099617+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC18A2 was added\ngene: SLC18A2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# \t618049","entity_name":"SLC18A2","entity_type":"gene"},{"created":"2022-09-19T07:28:07.725218+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC17A5 was added\ngene: SLC17A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2022-09-19T07:28:07.416697+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC16A2 was added\ngene: SLC16A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2022-09-19T07:28:06.813318+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC16A1 was added\ngene: SLC16A1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SLC16A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC16A1 were set to Hyperinsulinemic hypoglycemia, familial, 7, MIM#\t610021","entity_name":"SLC16A1","entity_type":"gene"},{"created":"2022-09-19T07:28:06.494612+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC12A6 was added\ngene: SLC12A6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2022-09-19T07:28:06.113302+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC12A3 was added\ngene: SLC12A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC12A3 were set to Gitelman syndrome","entity_name":"SLC12A3","entity_type":"gene"},{"created":"2022-09-19T07:28:05.597084+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC12A1 was added\ngene: SLC12A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC12A1 were set to Bartter syndrome","entity_name":"SLC12A1","entity_type":"gene"},{"created":"2022-09-19T07:28:05.211820+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SKI was added\ngene: SKI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SKI were set to Shprintzen-Goldberg syndrome","entity_name":"SKI","entity_type":"gene"},{"created":"2022-09-19T07:28:04.898750+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SIX3 was added\ngene: SIX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SIX3 were set to Holoprosencephaly-2","entity_name":"SIX3","entity_type":"gene"},{"created":"2022-09-19T07:28:04.309608+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SIX1 was added\ngene: SIX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SIX1 were set to Branchiootorenal syndrome","entity_name":"SIX1","entity_type":"gene"},{"created":"2022-09-19T07:28:03.995571+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SIL1 was added\ngene: SIL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome","entity_name":"SIL1","entity_type":"gene"},{"created":"2022-09-19T07:28:03.614425+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SI was added\ngene: SI was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SI were set to Sucrase-isomaltase deficiency, congenital, MIM#\t222900","entity_name":"SI","entity_type":"gene"},{"created":"2022-09-19T07:28:03.302312+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SHH was added\ngene: SHH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SHH were set to Holoprosencephaly-3","entity_name":"SHH","entity_type":"gene"},{"created":"2022-09-19T07:28:02.708654+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SHANK3 was added\ngene: SHANK3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SHANK3 were set to 17173049; 30842224; 16284256; 20186804; 22892527\nPhenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652","entity_name":"SHANK3","entity_type":"gene"},{"created":"2022-09-19T07:28:02.313808+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SH3TC2 was added\ngene: SH3TC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SH3TC2 were set to Charcot-Marie-Tooth disease","entity_name":"SH3TC2","entity_type":"gene"},{"created":"2022-09-19T07:28:02.000316+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SH2D1A was added\ngene: SH2D1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, MIM#308240","entity_name":"SH2D1A","entity_type":"gene"},{"created":"2022-09-19T07:28:01.192900+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SGSH was added\ngene: SGSH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A)","entity_name":"SGSH","entity_type":"gene"},{"created":"2022-09-19T07:28:00.809021+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SGCG was added\ngene: SGCG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C","entity_name":"SGCG","entity_type":"gene"},{"created":"2022-09-19T07:28:00.491662+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SGCD was added\ngene: SGCD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287","entity_name":"SGCD","entity_type":"gene"},{"created":"2022-09-19T07:28:00.049259+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SGCB was added\ngene: SGCB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E","entity_name":"SGCB","entity_type":"gene"},{"created":"2022-09-19T07:27:59.505434+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SGCA was added\ngene: SGCA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D","entity_name":"SGCA","entity_type":"gene"},{"created":"2022-09-19T07:27:59.196468+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SFTPC was added\ngene: SFTPC was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: SFTPC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SFTPC were set to Interstitial lung disease; Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620","entity_name":"SFTPC","entity_type":"gene"},{"created":"2022-09-19T07:27:58.815138+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SFTPB was added\ngene: SFTPB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary","entity_name":"SFTPB","entity_type":"gene"},{"created":"2022-09-19T07:27:58.296778+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SETX was added\ngene: SETX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SETX were set to Ataxia-ocular apraxia 2","entity_name":"SETX","entity_type":"gene"},{"created":"2022-09-19T07:27:57.911169+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SETBP1 was added\ngene: SETBP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SETBP1 were set to Schinzel-Giedion syndrome","entity_name":"SETBP1","entity_type":"gene"},{"created":"2022-09-19T07:27:57.595972+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SERPINA1 was added\ngene: SERPINA1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERPINA1 were set to Emphysema due to AAT deficiency, OMIM #107400; Antitrypsin alpha 1 deficiency","entity_name":"SERPINA1","entity_type":"gene"},{"created":"2022-09-19T07:27:57.208658+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SELENON was added\ngene: SELENON was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SELENON were set to Muscular dystrophy, rigid spine; Myopathy, congenital, with fiber-type disproportion","entity_name":"SELENON","entity_type":"gene"},{"created":"2022-09-19T07:27:56.693351+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SDHD was added\ngene: SDHD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHD were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes","entity_name":"SDHD","entity_type":"gene"},{"created":"2022-09-19T07:27:56.313722+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCO2 was added\ngene: SCO2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency","entity_name":"SCO2","entity_type":"gene"},{"created":"2022-09-19T07:27:56.011186+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCNN1G was added\ngene: SCNN1G was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type I, MIM#\t264350","entity_name":"SCNN1G","entity_type":"gene"},{"created":"2022-09-19T07:27:55.491356+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCNN1B was added\ngene: SCNN1B was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I MIM# 264350","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2022-09-19T07:27:55.104022+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCNN1A was added\ngene: SCNN1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, MIM#264350","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2022-09-19T07:27:54.794975+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN8A was added\ngene: SCN8A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN8A were set to Developmental and epileptic encephalopathy 13, MIM#614558","entity_name":"SCN8A","entity_type":"gene"},{"created":"2022-09-19T07:27:54.488772+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN5A was added\ngene: SCN5A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SCN5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SCN5A were set to Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome 1, MIM# 601144; Long QT syndrome 3 (MIM#603830); Heart block, progressive, type IA, MIM# 113900","entity_name":"SCN5A","entity_type":"gene"},{"created":"2022-09-19T07:27:53.905210+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN4A was added\ngene: SCN4A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SCN4A were set to Hyperkalemic periodic paralysis, type 2, MIM# 170500; Paramyotonia congenita , MIM#168300; Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Myasthenic syndrome, congenital, 16, MIM# 614198; Hypokalemic periodic paralysis, type 2, MIM# 613345","entity_name":"SCN4A","entity_type":"gene"},{"created":"2022-09-19T07:27:53.596884+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN3A was added\ngene: SCN3A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN3A were set to Developmental and epileptic encephalopathy 62, MIM#\t617938","entity_name":"SCN3A","entity_type":"gene"},{"created":"2022-09-19T07:27:53.288604+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN2A was added\ngene: SCN2A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN2A were set to Developmental and epileptic encephalopathy 11, MIM#\t613721","entity_name":"SCN2A","entity_type":"gene"},{"created":"2022-09-19T07:27:52.914600+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN1A was added\ngene: SCN1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN1A were set to Dravet syndrome, MIM#604403; Developmental and epileptic encephalopathy 6B, non-Dravet\t, MIM#619317","entity_name":"SCN1A","entity_type":"gene"},{"created":"2022-09-19T07:27:52.405461+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN11A was added\ngene: SCN11A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN11A were set to Episodic pain syndrome","entity_name":"SCN11A","entity_type":"gene"},{"created":"2022-09-19T07:27:52.088569+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SBDS was added\ngene: SBDS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SBDS were set to Shwachman-Bodian-Diamond syndrome","entity_name":"SBDS","entity_type":"gene"},{"created":"2022-09-19T07:27:51.728535+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SAMHD1 was added\ngene: SAMHD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome","entity_name":"SAMHD1","entity_type":"gene"},{"created":"2022-09-19T07:27:51.396343+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SALL1 was added\ngene: SALL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SALL1 were set to Townes-Brocks syndrome","entity_name":"SALL1","entity_type":"gene"},{"created":"2022-09-19T07:27:50.805212+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SACS was added\ngene: SACS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SACS were set to Spastic ataxia Charlevoix-Saguenay type","entity_name":"SACS","entity_type":"gene"},{"created":"2022-09-19T07:27:50.504611+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RYR2 was added\ngene: RYR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2; Ventricular tachycardia, catecholaminergic polymorphic","entity_name":"RYR2","entity_type":"gene"},{"created":"2022-09-19T07:27:50.192534+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RYR1 was added\ngene: RYR1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,BabySeq Category B gene,BabySeq Category C gene,Expert Review Green\nMode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: RYR1 were set to Malignant hyperthermia, multiminicore disease MIM#180901","entity_name":"RYR1","entity_type":"gene"},{"created":"2022-09-19T07:27:49.597753+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RUNX2 was added\ngene: RUNX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RUNX2 were set to Cleidocranial dysostosis","entity_name":"RUNX2","entity_type":"gene"},{"created":"2022-09-19T07:27:49.230610+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RSPH9 was added\ngene: RSPH9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary","entity_name":"RSPH9","entity_type":"gene"}]}