{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1641","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1639","results":[{"created":"2020-08-27T21:03:12.218798+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TECTA was added\ngene: TECTA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TECTA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TECTA were set to Deafness","entity_name":"TECTA","entity_type":"gene"},{"created":"2020-08-27T21:03:11.836838+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TCOF1 was added\ngene: TCOF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TCOF1 were set to Treacher Collins syndrome 1","entity_name":"TCOF1","entity_type":"gene"},{"created":"2020-08-27T21:03:11.447945+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TCIRG1 was added\ngene: TCIRG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCIRG1 were set to Osteopetrosis, infantile malignant","entity_name":"TCIRG1","entity_type":"gene"},{"created":"2020-08-27T21:03:10.921930+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TCAP was added\ngene: TCAP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G","entity_name":"TCAP","entity_type":"gene"},{"created":"2020-08-27T21:03:10.539952+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TBX5 was added\ngene: TBX5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TBX5 were set to Holt-Oram syndrome","entity_name":"TBX5","entity_type":"gene"},{"created":"2020-08-27T21:03:10.223230+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TBX1 was added\ngene: TBX1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TBX1 were set to DiGeorge syndrome","entity_name":"TBX1","entity_type":"gene"},{"created":"2020-08-27T21:03:09.845403+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TBC1D24 was added\ngene: TBC1D24 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBC1D24 were set to Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome","entity_name":"TBC1D24","entity_type":"gene"},{"created":"2020-08-27T21:03:09.521916+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TAZ was added\ngene: TAZ was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TAZ were set to Barth syndrome","entity_name":"TAZ","entity_type":"gene"},{"created":"2020-08-27T21:03:08.927290+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TAT was added\ngene: TAT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TAT were set to Tyrosinemia, type II","entity_name":"TAT","entity_type":"gene"},{"created":"2020-08-27T21:03:08.540460+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SURF1 was added\ngene: SURF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SURF1 were set to Leigh syndrome, due to COX deficiency","entity_name":"SURF1","entity_type":"gene"},{"created":"2020-08-27T21:03:08.231640+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SUOX was added\ngene: SUOX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUOX were set to Sulphite oxidase deficiency","entity_name":"SUOX","entity_type":"gene"},{"created":"2020-08-27T21:03:07.852433+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SUCLG1 was added\ngene: SUCLG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)","entity_name":"SUCLG1","entity_type":"gene"},{"created":"2020-08-27T21:03:07.241107+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SUCLA2 was added\ngene: SUCLA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria)","entity_name":"SUCLA2","entity_type":"gene"},{"created":"2020-08-27T21:03:06.924682+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STXBP2 was added\ngene: STXBP2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis","entity_name":"STXBP2","entity_type":"gene"},{"created":"2020-08-27T21:03:06.542247+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STXBP1 was added\ngene: STXBP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: STXBP1 were set to Epileptic encephalopathy, early infantile","entity_name":"STXBP1","entity_type":"gene"},{"created":"2020-08-27T21:03:06.231995+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STX11 was added\ngene: STX11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4","entity_name":"STX11","entity_type":"gene"},{"created":"2020-08-27T21:03:05.845730+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STS was added\ngene: STS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: STS were set to Ichthyosis, X-linked","entity_name":"STS","entity_type":"gene"},{"created":"2020-08-27T21:03:05.318662+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STRC was added\ngene: STRC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: STRC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STRC were set to Deafness, autosomal recessive","entity_name":"STRC","entity_type":"gene"},{"created":"2020-08-27T21:03:04.943817+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STRA6 was added\ngene: STRA6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STRA6 were set to Microphthalmia, syndromic","entity_name":"STRA6","entity_type":"gene"},{"created":"2020-08-27T21:03:04.625694+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STK11 was added\ngene: STK11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: STK11 were set to Peutz-Jeghers syndrome","entity_name":"STK11","entity_type":"gene"},{"created":"2020-08-27T21:03:04.243488+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STAT3 was added\ngene: STAT3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: STAT3 were set to Hyper-IgE recurrent infection syndrome","entity_name":"STAT3","entity_type":"gene"},{"created":"2020-08-27T21:03:03.926483+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STAR was added\ngene: STAR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STAR were set to Congenital lipoid adrenal hyperplasia,","entity_name":"STAR","entity_type":"gene"},{"created":"2020-08-27T21:03:03.327749+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SRCAP was added\ngene: SRCAP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SRCAP were set to Floating-Harbor syndrome","entity_name":"SRCAP","entity_type":"gene"},{"created":"2020-08-27T21:03:02.945524+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPTLC1 was added\ngene: SPTLC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA","entity_name":"SPTLC1","entity_type":"gene"},{"created":"2020-08-27T21:03:02.635794+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPTB was added\ngene: SPTB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SPTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SPTB were set to Spherocytosis","entity_name":"SPTB","entity_type":"gene"},{"created":"2020-08-27T21:03:02.318823+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPTA1 was added\ngene: SPTA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SPTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SPTA1 were set to Elliptocytosis","entity_name":"SPTA1","entity_type":"gene"},{"created":"2020-08-27T21:03:01.937627+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPRED1 was added\ngene: SPRED1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SPRED1 were set to Legius syndrome","entity_name":"SPRED1","entity_type":"gene"},{"created":"2020-08-27T21:03:01.623829+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPR was added\ngene: SPR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPR were set to Sepiapterin reductase deficiency","entity_name":"SPR","entity_type":"gene"},{"created":"2020-08-27T21:03:01.020412+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPINK5 was added\ngene: SPINK5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:03:00.641198+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SP110 was added\ngene: SP110 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:03:00.328017+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SOX9 was added\ngene: SOX9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:59.944448+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SOX10 was added\ngene: SOX10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:59.623388+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMPX was added\ngene: SMPX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:58.841536+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Niemann-Pick disease, type B for gene: SMPD1","entity_name":"SMPD1","entity_type":"gene"},{"created":"2020-08-27T21:02:58.527340+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMPD1 was added\ngene: SMPD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A","entity_name":"SMPD1","entity_type":"gene"},{"created":"2020-08-27T21:02:58.149204+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMN1 was added\ngene: SMN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMN1 were set to Spinal muscular atrophy","entity_name":"SMN1","entity_type":"gene"},{"created":"2020-08-27T21:02:57.839739+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMC1A was added\ngene: SMC1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:57.527462+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMARCAL1 was added\ngene: SMARCAL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:57.140964+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMAD4 was added\ngene: SMAD4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:56.541212+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMAD3 was added\ngene: SMAD3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:56.231559+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLCO2A1 was added\ngene: SLCO2A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SLCO2A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal recessive 2","entity_name":"SLCO2A1","entity_type":"gene"},{"created":"2020-08-27T21:02:55.855484+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC9A6 was added\ngene: SLC9A6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:55.538710+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC7A9 was added\ngene: SLC7A9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:54.946191+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC7A7 was added\ngene: SLC7A7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:54.637097+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC6A8 was added\ngene: SLC6A8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:54.320517+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC6A5 was added\ngene: SLC6A5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC6A5 were set to Hyperekplexia 3","entity_name":"SLC6A5","entity_type":"gene"},{"created":"2020-08-27T21:02:53.943313+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC5A5 was added\ngene: SLC5A5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:53.635566+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC5A2 was added\ngene: SLC5A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:53.047884+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC4A11 was added\ngene: SLC4A11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:52.739160+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC4A1 was added\ngene: SLC4A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:52.422117+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC46A1 was added\ngene: SLC46A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2020-08-27T21:02:52.053321+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC45A2 was added\ngene: SLC45A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:51.736249+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC3A1 was added\ngene: SLC3A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:51.139545+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC39A4 was added\ngene: SLC39A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:50.828985+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC37A4 was added\ngene: SLC37A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2020-08-27T21:02:50.455445+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC35D1 was added\ngene: SLC35D1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:50.142285+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC34A3 was added\ngene: SLC34A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:49.826315+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC34A2 was added\ngene: SLC34A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:49.236194+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC2A10 was added\ngene: SLC2A10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:48.926324+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC2A1 was added\ngene: SLC2A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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 1","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2020-08-27T21:02:48.549960+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC27A4 was added\ngene: SLC27A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:48.240780+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC26A4 was added\ngene: SLC26A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:47.931080+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC26A3 was added\ngene: SLC26A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:47.333443+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC26A2 was added\ngene: SLC26A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:47.024944+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A4 was added\ngene: SLC25A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:46.647250+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A38 was added\ngene: SLC25A38 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:46.343999+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A20 was added\ngene: SLC25A20 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency","entity_name":"SLC25A20","entity_type":"gene"},{"created":"2020-08-27T21:02:46.033272+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A15 was added\ngene: SLC25A15 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome","entity_name":"SLC25A15","entity_type":"gene"},{"created":"2020-08-27T21:02:45.443311+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A13 was added\ngene: SLC25A13 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A13 were set to Citrullinemia","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2020-08-27T21:02:45.138014+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC22A5 was added\ngene: SLC22A5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2020-08-27T21:02:44.823453+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC19A3 was added\ngene: SLC19A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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","entity_name":"SLC19A3","entity_type":"gene"},{"created":"2020-08-27T21:02:44.446332+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC19A2 was added\ngene: SLC19A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:44.141716+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC17A5 was added\ngene: SLC17A5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:43.621997+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC16A2 was added\ngene: SLC16A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:43.247125+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC12A6 was added\ngene: SLC12A6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:42.940192+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC12A3 was added\ngene: SLC12A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:42.630915+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC12A1 was added\ngene: SLC12A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:42.320644+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SKI was added\ngene: SKI was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:41.738998+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SIX3 was added\ngene: SIX3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:41.431199+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SIX1 was added\ngene: SIX1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:41.120697+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SIL1 was added\ngene: SIL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:40.749110+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SHH was added\ngene: SHH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:40.442840+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SHANK3 was added\ngene: SHANK3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome","entity_name":"SHANK3","entity_type":"gene"},{"created":"2020-08-27T21:02:39.858735+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SH3TC2 was added\ngene: SH3TC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:39.543577+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SH2D1A was added\ngene: SH2D1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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","entity_name":"SH2D1A","entity_type":"gene"},{"created":"2020-08-27T21:02:39.237114+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SGSH was added\ngene: SGSH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:38.935387+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SGCG was added\ngene: SGCG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:38.624396+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SGCD was added\ngene: SGCD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A 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, type 2F","entity_name":"SGCD","entity_type":"gene"},{"created":"2020-08-27T21:02:38.046421+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SGCB was added\ngene: SGCB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:37.737267+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SGCA was added\ngene: SGCA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:37.428083+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SFTPB was added\ngene: SFTPB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:37.048697+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SETX was added\ngene: SETX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:36.746255+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SETBP1 was added\ngene: SETBP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:36.441660+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SEPT9 was added\ngene: SEPT9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic","entity_name":"SEPT9","entity_type":"gene"},{"created":"2020-08-27T21:02:35.918944+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SELENON was added\ngene: SELENON was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SELENON were set to Myopathy, congenital, with fiber-type disproportion; Muscular dystrophy, rigid spine","entity_name":"SELENON","entity_type":"gene"},{"created":"2020-08-27T21:02:35.547009+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SDHD was added\ngene: SDHD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:35.241992+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCO2 was added\ngene: SCO2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T21:02:34.943677+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCNN1B was added\ngene: SCNN1B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2020-08-27T21:02:34.631807+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCNN1A was added\ngene: SCNN1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2020-08-27T21:02:34.318921+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN4A was added\ngene: SCN4A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN4A were set to Hyperkalemic periodic paralysis, type 2","entity_name":"SCN4A","entity_type":"gene"}]}