{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=767","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=765","results":[{"created":"2022-09-19T07:24:52.596242+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLDN19 was added\ngene: CLDN19 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement","entity_name":"CLDN19","entity_type":"gene"},{"created":"2022-09-19T07:24:52.441163+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLDN14 was added\ngene: CLDN14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CLDN14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLDN14 were set to Hearing loss, non-syndromic, autosomal recessive","entity_name":"CLDN14","entity_type":"gene"},{"created":"2022-09-19T07:24:52.299040+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLCN7 was added\ngene: CLCN7 was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4, MIM# 611490","entity_name":"CLCN7","entity_type":"gene"},{"created":"2022-09-19T07:24:52.136496+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLCN5 was added\ngene: CLCN5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CLCN5 were set to Dent disease","entity_name":"CLCN5","entity_type":"gene"},{"created":"2022-09-19T07:24:51.996519+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CIB2 was added\ngene: CIB2 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CIB2 were set to 27344577; 26473954; 26445815; 23023331; 26173970; 26226137\nPhenotypes for gene: CIB2 were set to Deafness, autosomal recessive 48, MIM# 609439","entity_name":"CIB2","entity_type":"gene"},{"created":"2022-09-19T07:24:51.817355+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRNG was added\ngene: CHRNG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNG were set to Pterygium syndrome","entity_name":"CHRNG","entity_type":"gene"},{"created":"2022-09-19T07:24:51.702844+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRNE was added\ngene: CHRNE was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNE were set to Congenital myasthenic syndrome, MIM#605809","entity_name":"CHRNE","entity_type":"gene"},{"created":"2022-09-19T07:24:51.526334+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRND was added\ngene: CHRND was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRND were set to Congenital myasthenic syndrome, MIM#616321","entity_name":"CHRND","entity_type":"gene"},{"created":"2022-09-19T07:24:51.408164+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRNB1 was added\ngene: CHRNB1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CHRNB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNB1 were set to Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, MIM# \t616314","entity_name":"CHRNB1","entity_type":"gene"},{"created":"2022-09-19T07:24:51.224413+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRNA1 was added\ngene: CHRNA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNA1 were set to Congenital myasthenic syndrome, MIM#601462","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2022-09-19T07:24:51.102006+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHM was added\ngene: CHM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CHM were set to Choroideremia","entity_name":"CHM","entity_type":"gene"},{"created":"2022-09-19T07:24:50.918381+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHKB was added\ngene: CHKB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type","entity_name":"CHKB","entity_type":"gene"},{"created":"2022-09-19T07:24:50.799952+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHD7 was added\ngene: CHD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHD7 were set to CHARGE syndrome","entity_name":"CHD7","entity_type":"gene"},{"created":"2022-09-19T07:24:50.688395+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHD2 was added\ngene: CHD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHD2 were set to Developmental delay, intellectual disability, epilepsy","entity_name":"CHD2","entity_type":"gene"},{"created":"2022-09-19T07:24:50.515617+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHAT was added\ngene: CHAT was added to gNBS. Sources: BeginNGS:BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHAT were set to Congenital myasthenic syndrome, MIM#254210","entity_name":"CHAT","entity_type":"gene"},{"created":"2022-09-19T07:24:50.390385+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CFTR was added\ngene: CFTR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFTR were set to Cystic fibrosis, MIM#219700","entity_name":"CFTR","entity_type":"gene"},{"created":"2022-09-19T07:24:50.203825+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CFP was added\ngene: CFP was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CFP were set to Properdin deficiency, X-linked, MIM#312060","entity_name":"CFP","entity_type":"gene"},{"created":"2022-09-19T07:24:50.031067+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CFD was added\ngene: CFD was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFD were set to Complement factor D deficiency, MIM#\t613912","entity_name":"CFD","entity_type":"gene"},{"created":"2022-09-19T07:24:49.903201+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CFB was added\ngene: CFB was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CFB were set to Haemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM#\t612924","entity_name":"CFB","entity_type":"gene"},{"created":"2022-09-19T07:24:49.790773+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CFL2 was added\ngene: CFL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFL2 were set to Nemaline myopathy","entity_name":"CFL2","entity_type":"gene"},{"created":"2022-09-19T07:24:49.614003+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CFC1 was added\ngene: CFC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CFC1 were set to Congenital heart defects","entity_name":"CFC1","entity_type":"gene"},{"created":"2022-09-19T07:24:49.494385+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP83 was added\ngene: CEP83 was added to gNBS. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP83 were set to 33938610; 24882706\nPhenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; ID; MONDO:0014374; Retinal dystrophy","entity_name":"CEP83","entity_type":"gene"},{"created":"2022-09-19T07:24:49.315001+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP78 was added\ngene: CEP78 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss","entity_name":"CEP78","entity_type":"gene"},{"created":"2022-09-19T07:24:49.200118+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP290 was added\ngene: CEP290 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP290 were set to Joubert syndrome","entity_name":"CEP290","entity_type":"gene"},{"created":"2022-09-19T07:24:49.026095+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP152 was added\ngene: CEP152 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP152 were set to Seckel syndrome","entity_name":"CEP152","entity_type":"gene"},{"created":"2022-09-19T07:24:48.904861+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDT1 was added\ngene: CDT1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDT1 were set to 22333897; 21358632; 21358631; 33338304\nPhenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4, MIM# 613804; MONDO:0013431","entity_name":"CDT1","entity_type":"gene"},{"created":"2022-09-19T07:24:48.790063+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDSN was added\ngene: CDSN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDSN were set to Hypotrichosis","entity_name":"CDSN","entity_type":"gene"},{"created":"2022-09-19T07:24:48.620129+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDKN1C was added\ngene: CDKN1C was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, MIM#130650","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2022-09-19T07:24:48.495667+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDKL5 was added\ngene: CDKL5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CDKL5 were set to Epileptic encephalopathy, early infantile, 2","entity_name":"CDKL5","entity_type":"gene"},{"created":"2022-09-19T07:24:48.315393+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDK5RAP2 was added\ngene: CDK5RAP2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488","entity_name":"CDK5RAP2","entity_type":"gene"},{"created":"2022-09-19T07:24:48.198584+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDH23 was added\ngene: CDH23 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDH23 were set to Deafness, autosomal recessive; Usher syndrome, type 1D","entity_name":"CDH23","entity_type":"gene"},{"created":"2022-09-19T07:24:48.021783+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDC14A was added\ngene: CDC14A was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653","entity_name":"CDC14A","entity_type":"gene"},{"created":"2022-09-19T07:24:47.911777+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDAN1 was added\ngene: CDAN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDAN1 were set to Anemia, congenital dyserythropoietic, type I","entity_name":"CDAN1","entity_type":"gene"},{"created":"2022-09-19T07:24:47.798781+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CD79B was added\ngene: CD79B was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CD79B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD79B were set to Agammaglobulinaemia 6, MIM#\t612692","entity_name":"CD79B","entity_type":"gene"},{"created":"2022-09-19T07:24:47.689679+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CD79A was added\ngene: CD79A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CD79A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD79A were set to Agammaglobulinaemia 3, MIM#\t613501","entity_name":"CD79A","entity_type":"gene"},{"created":"2022-09-19T07:24:47.503351+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CD40LG was added\ngene: CD40LG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM","entity_name":"CD40LG","entity_type":"gene"},{"created":"2022-09-19T07:24:47.392418+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CD3E was added\ngene: CD3E was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CD3E was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD3E were set to Immunodeficiency 18, MIM#\t615615","entity_name":"CD3E","entity_type":"gene"},{"created":"2022-09-19T07:24:47.217620+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CD3D was added\ngene: CD3D was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green\nMode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD3D were set to Immunodeficiency 19, MIM#\t615617","entity_name":"CD3D","entity_type":"gene"},{"created":"2022-09-19T07:24:47.107357+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC40 was added\ngene: CCDC40 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC40 were set to Primary ciliary dyskinesia","entity_name":"CCDC40","entity_type":"gene"},{"created":"2022-09-19T07:24:46.991532+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC39 was added\ngene: CCDC39 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC39 were set to Primary ciliary dyskinesia","entity_name":"CCDC39","entity_type":"gene"},{"created":"2022-09-19T07:24:46.822488+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CC2D2A was added\ngene: CC2D2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CC2D2A were set to Joubert syndrome","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2022-09-19T07:24:46.705959+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CBS was added\ngene: CBS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types","entity_name":"CBS","entity_type":"gene"},{"created":"2022-09-19T07:24:46.593154+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GIF was added\ngene: GIF was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GIF were set to Intrinsic factor deficiency, MIM#\t261000","entity_name":"GIF","entity_type":"gene"},{"created":"2022-09-19T07:24:46.424905+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CBL was added\ngene: CBL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia","entity_name":"CBL","entity_type":"gene"},{"created":"2022-09-19T07:24:46.305349+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAVIN1 was added\ngene: CAVIN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2022-09-19T07:24:46.123432+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAV3 was added\ngene: CAV3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CAV3 were set to Caveolinopathy; Muscular dystrophy, limb-girdle, type IC","entity_name":"CAV3","entity_type":"gene"},{"created":"2022-09-19T07:24:46.006727+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CASR was added\ngene: CASR was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, MIM#\t239200","entity_name":"CASR","entity_type":"gene"},{"created":"2022-09-19T07:24:45.888613+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CASQ2 was added\ngene: CASQ2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic","entity_name":"CASQ2","entity_type":"gene"},{"created":"2022-09-19T07:24:45.712669+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CASK was added\ngene: CASK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CASK were set to Mental retardation and microcephaly with pontine and cerebellar hypoplasia","entity_name":"CASK","entity_type":"gene"},{"created":"2022-09-19T07:24:45.598063+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CARD11 was added\ngene: CARD11 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CARD11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CARD11 were set to 23374270; 28628108; 23561803; 12818158\nPhenotypes for gene: CARD11 were set to Immunodeficiency 11A, MIM#\t615206","entity_name":"CARD11","entity_type":"gene"},{"created":"2022-09-19T07:24:45.454804+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAPN3 was added\ngene: CAPN3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A","entity_name":"CAPN3","entity_type":"gene"},{"created":"2022-09-19T07:24:45.301178+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CACNA1F was added\ngene: CACNA1F was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CACNA1F were set to Night blindness, congenital stationary (complete), 1A, X-linked","entity_name":"CACNA1F","entity_type":"gene"},{"created":"2022-09-19T07:24:45.158215+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CACNA1D was added\ngene: CACNA1D was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CACNA1D were set to Primary aldosteronism, seizures, and neurologic abnormalities, MIM#\t615474","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2022-09-19T07:24:45.045617+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CACNA1C was added\ngene: CACNA1C was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CACNA1C were set to Timothy syndrome, MIM#\t601005; Long QT syndrome 8, MIM#\t618447","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2022-09-19T07:24:44.897327+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CACNA1A was added\ngene: CACNA1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CACNA1A were set to Episodic ataxia, type 2","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2022-09-19T07:24:44.723900+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CABP2 was added\ngene: CABP2 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CABP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CABP2 were set to Deafness, autosomal recessive 93, MIM# 614899","entity_name":"CABP2","entity_type":"gene"},{"created":"2022-09-19T07:24:44.610291+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CA2 was added\ngene: CA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis","entity_name":"CA2","entity_type":"gene"},{"created":"2022-09-19T07:24:44.497649+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CA5A was added\ngene: CA5A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CA5A were set to Hyperammonaemia due to carbonic anhydrase VA deficiency, MIM#\t615751","entity_name":"CA5A","entity_type":"gene"},{"created":"2022-09-19T07:24:44.352914+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C9 was added\ngene: C9 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: C9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C9 were set to C9 deficiency, MIM#\t613825","entity_name":"C9","entity_type":"gene"},{"created":"2022-09-19T07:24:44.223431+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C8B was added\ngene: C8B was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: C8B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C8B were set to C8 deficiency, type II, MIM#\t613789","entity_name":"C8B","entity_type":"gene"},{"created":"2022-09-19T07:24:44.101320+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C8A was added\ngene: C8A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: C8A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C8A were set to C8 deficiency, type I, MIM#\t613790","entity_name":"C8A","entity_type":"gene"},{"created":"2022-09-19T07:24:43.921463+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C7 was added\ngene: C7 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C7 were set to C7 deficiency, MIM#\t610102","entity_name":"C7","entity_type":"gene"},{"created":"2022-09-19T07:24:43.813139+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C6 was added\ngene: C6 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C6 were set to C6 deficiency, MIM#\t612446","entity_name":"C6","entity_type":"gene"},{"created":"2022-09-19T07:24:43.693894+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C5 was added\ngene: C5 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C5 were set to C5 deficiency, MIM#\t609536","entity_name":"C5","entity_type":"gene"},{"created":"2022-09-19T07:24:43.524083+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C3 was added\ngene: C3 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C3 were set to C3 deficiency, MIM#\t613779","entity_name":"C3","entity_type":"gene"},{"created":"2022-09-19T07:24:43.414226+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BTK was added\ngene: BTK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: BTK were set to Agammaglobulinemia, X-linked 1, MIM#300755","entity_name":"BTK","entity_type":"gene"},{"created":"2022-09-19T07:24:43.296502+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BTD was added\ngene: BTD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BTD were set to Biotinidase deficiency, MIM#253260","entity_name":"BTD","entity_type":"gene"},{"created":"2022-09-19T07:24:43.126148+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BSND was added\ngene: BSND was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BSND were set to Bartter syndrome with sensorineural deafness","entity_name":"BSND","entity_type":"gene"},{"created":"2022-09-19T07:24:43.013043+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BSCL2 was added\ngene: BSCL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BSCL2 were set to Lipodystrophy, congenital generalized, type 2, MIM# 269700; Berardinelli-Seip lipodystrophy","entity_name":"BSCL2","entity_type":"gene"},{"created":"2022-09-19T07:24:42.893705+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BRIP1 was added\ngene: BRIP1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRIP1 were set to Fanconi anaemia, complementation group J, MIM#\t609054","entity_name":"BRIP1","entity_type":"gene"},{"created":"2022-09-19T07:24:42.720272+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BRCA2 was added\ngene: BRCA2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRCA2 were set to Fanconi anaemia, complementation group D, MIM#1\t605724","entity_name":"BRCA2","entity_type":"gene"},{"created":"2022-09-19T07:24:42.623732+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BRAF was added\ngene: BRAF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome, MIM# 115150; Noonan syndrome 7, MIM# 613706","entity_name":"BRAF","entity_type":"gene"},{"created":"2022-09-19T07:24:42.496664+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BMPR1A was added\ngene: BMPR1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BMPR1A were set to Polyposis, juvenile intestinal, MIM# 174900","entity_name":"BMPR1A","entity_type":"gene"},{"created":"2022-09-19T07:24:42.315798+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BLNK was added\ngene: BLNK was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: BLNK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BLNK were set to Agammaglobulinaemia 4, MIM#613502","entity_name":"BLNK","entity_type":"gene"},{"created":"2022-09-19T07:24:42.210474+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BLM was added\ngene: BLM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BLM were set to Bloom syndrome","entity_name":"BLM","entity_type":"gene"},{"created":"2022-09-19T07:24:42.091204+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BIN1 was added\ngene: BIN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive","entity_name":"BIN1","entity_type":"gene"},{"created":"2022-09-19T07:24:41.913488+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BICD2 was added\ngene: BICD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BICD2 were set to Congenital spinal muscular atrophy","entity_name":"BICD2","entity_type":"gene"},{"created":"2022-09-19T07:24:41.815726+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCS1L was added\ngene: BCS1L was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCS1L were set to Complex 3 deficiency","entity_name":"BCS1L","entity_type":"gene"},{"created":"2022-09-19T07:24:41.701704+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCKDK was added\ngene: BCKDK was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDK were set to Branched-chain keto acid dehydrogenase kinase deficiency, MIM#\t614923","entity_name":"BCKDK","entity_type":"gene"},{"created":"2022-09-19T07:24:41.591120+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCKDHB was added\ngene: BCKDHB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHB were set to Maple syrup urine disease","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-09-19T07:24:41.422566+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCKDHA was added\ngene: BCKDHA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHA were set to Maple syrup urine disease","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-09-19T07:24:41.317632+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCHE was added\ngene: BCHE was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: BCHE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCHE were set to Butyrylcholinesterase deficiency, MIM#\t617936","entity_name":"BCHE","entity_type":"gene"},{"created":"2022-09-19T07:24:41.198538+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS9 was added\ngene: BBS9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS9 were set to Bardet-Biedl syndrome","entity_name":"BBS9","entity_type":"gene"},{"created":"2022-09-19T07:24:41.024584+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS7 was added\ngene: BBS7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS7 were set to Bardet-Biedl syndrome","entity_name":"BBS7","entity_type":"gene"},{"created":"2022-09-19T07:24:40.915130+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS5 was added\ngene: BBS5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS5 were set to Bardet-Biedl syndrome","entity_name":"BBS5","entity_type":"gene"},{"created":"2022-09-19T07:24:40.807760+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS4 was added\ngene: BBS4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS4 were set to Bardet-Biedl syndrome","entity_name":"BBS4","entity_type":"gene"},{"created":"2022-09-19T07:24:40.701008+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS2 was added\ngene: BBS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS2 were set to Bardet-Biedl syndrome","entity_name":"BBS2","entity_type":"gene"},{"created":"2022-09-19T07:24:40.597355+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS12 was added\ngene: BBS12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS12 were set to Bardet-Biedl syndrome","entity_name":"BBS12","entity_type":"gene"},{"created":"2022-09-19T07:24:40.490430+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS10 was added\ngene: BBS10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS10 were set to Bardet-Biedl syndrome","entity_name":"BBS10","entity_type":"gene"},{"created":"2022-09-19T07:24:40.317027+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBS1 was added\ngene: BBS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS1 were set to Bardet-Biedl syndrome","entity_name":"BBS1","entity_type":"gene"},{"created":"2022-09-19T07:24:40.199204+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BAAT was added\ngene: BAAT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BAAT were set to Bile acid amidation defect","entity_name":"BAAT","entity_type":"gene"},{"created":"2022-09-19T07:24:40.037621+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: B3GLCT was added\ngene: B3GLCT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GLCT were set to Peters-Plus syndrome","entity_name":"B3GLCT","entity_type":"gene"},{"created":"2022-09-19T07:24:39.907945+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AVPR2 was added\ngene: AVPR2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AVPR2 were set to Diabetes insipidus, nephrogenic, MIM#304800","entity_name":"AVPR2","entity_type":"gene"},{"created":"2022-09-19T07:24:39.798654+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AUH was added\ngene: AUH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I","entity_name":"AUH","entity_type":"gene"},{"created":"2022-09-19T07:24:39.635821+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATRX was added\ngene: ATRX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATRX were set to Alpha-thalassemia/mental retardation syndrome","entity_name":"ATRX","entity_type":"gene"},{"created":"2022-09-19T07:24:39.513305+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP8B1 was added\ngene: ATP8B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1","entity_name":"ATP8B1","entity_type":"gene"},{"created":"2022-09-19T07:24:39.400858+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP7B was added\ngene: ATP7B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP7B were set to Wilson disease","entity_name":"ATP7B","entity_type":"gene"},{"created":"2022-09-19T07:24:39.296839+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP7A was added\ngene: ATP7A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATP7A were set to Menkes disease, MIM# 309400","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-19T07:24:39.122247+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP6V1B1 was added\ngene: ATP6V1B1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis & hearing loss, MIM#267300","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2022-09-19T07:24:39.012261+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP6V0A4 was added\ngene: ATP6V0A4 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V0A4 were set to Distal renal tubular acidosis 3, with or without sensorineural hearing loss, MIM3\t602722","entity_name":"ATP6V0A4","entity_type":"gene"}]}