{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=768","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=766","results":[{"created":"2022-09-19T07:24:38.907727+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP6V0A2 was added\ngene: ATP6V0A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2022-09-19T07:24:38.803698+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP2B2 was added\ngene: ATP2B2 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ATP2B2 were set to Deafness, childhood onset","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2022-09-19T07:24:38.698706+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP2A1 was added\ngene: ATP2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP2A1 were set to Brody myopathy","entity_name":"ATP2A1","entity_type":"gene"},{"created":"2022-09-19T07:24:38.593614+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP1A2 was added\ngene: ATP1A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ATP1A2 were set to Hemiplegic migraine","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2022-09-19T07:24:38.488701+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATM was added\ngene: ATM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATM were set to Ataxia-telangiectasia","entity_name":"ATM","entity_type":"gene"},{"created":"2022-09-19T07:24:38.322049+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASS1 was added\ngene: ASS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASS1 were set to Citrullinemia, MIM#215700","entity_name":"ASS1","entity_type":"gene"},{"created":"2022-09-19T07:24:38.214834+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASPA was added\ngene: ASPA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASPA were set to Canavan disease","entity_name":"ASPA","entity_type":"gene"},{"created":"2022-09-19T07:24:38.109047+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASL was added\ngene: ASL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASL were set to Argininosuccinic aciduria, MIM#207900","entity_name":"ASL","entity_type":"gene"},{"created":"2022-09-19T07:24:37.999486+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARX was added\ngene: ARX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ARX were set to Lissencephaly, X-linked 2","entity_name":"ARX","entity_type":"gene"},{"created":"2022-09-19T07:24:37.896042+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARSB was added\ngene: ARSB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy)","entity_name":"ARSB","entity_type":"gene"},{"created":"2022-09-19T07:24:37.790136+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARSA was added\ngene: ARSA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARSA were set to Metachromatic leukodystrophy","entity_name":"ARSA","entity_type":"gene"},{"created":"2022-09-19T07:24:37.620475+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARPC1B was added\ngene: ARPC1B was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARPC1B were set to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718","entity_name":"ARPC1B","entity_type":"gene"},{"created":"2022-09-19T07:24:37.508399+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARMC4 was added\ngene: ARMC4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARMC4 were set to Primary ciliary dyskinesia","entity_name":"ARMC4","entity_type":"gene"},{"created":"2022-09-19T07:24:37.443286+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARID1B was added\ngene: ARID1B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ARID1B were set to Coffin-Siris syndrome","entity_name":"ARID1B","entity_type":"gene"},{"created":"2022-09-19T07:24:37.309647+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARG1 was added\ngene: ARG1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARG1 were set to Arginase deficiency, MIM#207800","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-09-19T07:24:37.162266+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARFGEF2 was added\ngene: ARFGEF2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2022-09-19T07:24:37.003088+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AR was added\ngene: AR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AR were set to Androgen insensitivity, MIM# 300068","entity_name":"AR","entity_type":"gene"},{"created":"2022-09-19T07:24:36.850945+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: APTX was added\ngene: APTX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia","entity_name":"APTX","entity_type":"gene"},{"created":"2022-09-19T07:24:36.713462+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: APRT was added\ngene: APRT was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency, MIM#\t614723","entity_name":"APRT","entity_type":"gene"},{"created":"2022-09-19T07:24:36.600339+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AQP2 was added\ngene: AQP2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 2, MIM#125800","entity_name":"AQP2","entity_type":"gene"},{"created":"2022-09-19T07:24:36.491328+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: APOB was added\ngene: APOB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: APOB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APOB were set to Apolipoprotein B deficiency","entity_name":"APOB","entity_type":"gene"},{"created":"2022-09-19T07:24:36.318011+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: APC was added\ngene: APC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: APC were set to Adenomatous polyposis coli; Adenomatous polyposis coli, attenuated","entity_name":"APC","entity_type":"gene"},{"created":"2022-09-19T07:24:36.212762+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP4M1 was added\ngene: AP4M1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4M1 were set to 31915823; 32979048; 19559397; 25496299; 21937992; 28464862; 29096665\nPhenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, MIM#\t612936","entity_name":"AP4M1","entity_type":"gene"},{"created":"2022-09-19T07:24:36.116353+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP4E1 was added\ngene: AP4E1 was added to gNBS. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4E1 were set to 20972249; 32979048; 23472171; 21620353; 21937992\nPhenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744","entity_name":"AP4E1","entity_type":"gene"},{"created":"2022-09-19T07:24:36.000780+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP4B1 was added\ngene: AP4B1 was added to gNBS. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4B1 were set to 24700674; 32979048; 32166732; 32171285; 22290197; 21620353; 31525725; 24781758\nPhenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066","entity_name":"AP4B1","entity_type":"gene"},{"created":"2022-09-19T07:24:35.898192+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP3B1 was added\ngene: AP3B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2","entity_name":"AP3B1","entity_type":"gene"},{"created":"2022-09-19T07:24:35.789399+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANTXR2 was added\ngene: ANTXR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2022-09-19T07:24:35.621708+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANO10 was added\ngene: ANO10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10","entity_name":"ANO10","entity_type":"gene"},{"created":"2022-09-19T07:24:35.518504+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANKRD26 was added\ngene: ANKRD26 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANKRD26 were set to Thrombocytopenia 2","entity_name":"ANKRD26","entity_type":"gene"},{"created":"2022-09-19T07:24:35.430394+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANKH was added\ngene: ANKH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANKH were set to Craniometaphyseal dysplasia","entity_name":"ANKH","entity_type":"gene"},{"created":"2022-09-19T07:24:35.299546+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANK2 was added\ngene: ANK2 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Green\nMode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANK2 were set to Complex neurodevelopmental disorder, MONDO:0100038","entity_name":"ANK2","entity_type":"gene"},{"created":"2022-09-19T07:24:35.127133+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANK1 was added\ngene: ANK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANK1 were set to Spherocytosis","entity_name":"ANK1","entity_type":"gene"},{"created":"2022-09-19T07:24:35.054086+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AMT was added\ngene: AMT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMT were set to Hyperglycinaemia, non-ketotic","entity_name":"AMT","entity_type":"gene"},{"created":"2022-09-19T07:24:34.901026+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AMN was added\ngene: AMN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type, MIM#618882","entity_name":"AMN","entity_type":"gene"},{"created":"2022-09-19T07:24:34.795569+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AMELX was added\ngene: AMELX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AMELX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AMELX were set to Amelogenesis imperfecta","entity_name":"AMELX","entity_type":"gene"},{"created":"2022-09-19T07:24:34.691090+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALX4 was added\ngene: ALX4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ALX4 were set to Parietal foramina 2","entity_name":"ALX4","entity_type":"gene"},{"created":"2022-09-19T07:24:34.535703+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALS2 was added\ngene: ALS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALS2 were set to Amyotrophic lateral sclerosis","entity_name":"ALS2","entity_type":"gene"},{"created":"2022-09-19T07:24:34.415648+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALPL was added\ngene: ALPL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALPL were set to Hypophosphatasia, MIM#241500","entity_name":"ALPL","entity_type":"gene"},{"created":"2022-09-19T07:24:34.304513+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALOXE3 was added\ngene: ALOXE3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2022-09-19T07:24:34.202329+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALOX12B was added\ngene: ALOX12B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2022-09-19T07:24:34.099261+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALMS1 was added\ngene: ALMS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALMS1 were set to Alstrom syndrome","entity_name":"ALMS1","entity_type":"gene"},{"created":"2022-09-19T07:24:34.000380+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG9 was added\ngene: ALG9 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG9 were set to 26453364; 25966638; 28932688\nPhenotypes for gene: ALG9 were set to Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Congenital disorder of glycosylation, type Il, MIM#608776","entity_name":"ALG9","entity_type":"gene"},{"created":"2022-09-19T07:24:33.889961+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG8 was added\ngene: ALG8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih","entity_name":"ALG8","entity_type":"gene"},{"created":"2022-09-19T07:24:33.731224+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG6 was added\ngene: ALG6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic","entity_name":"ALG6","entity_type":"gene"},{"created":"2022-09-19T07:24:33.622267+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG3 was added\ngene: ALG3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id","entity_name":"ALG3","entity_type":"gene"},{"created":"2022-09-19T07:24:33.520309+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG14 was added\ngene: ALG14 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG14 were set to Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227","entity_name":"ALG14","entity_type":"gene"},{"created":"2022-09-19T07:24:33.437344+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG12 was added\ngene: ALG12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig","entity_name":"ALG12","entity_type":"gene"},{"created":"2022-09-19T07:24:33.323221+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG1 was added\ngene: ALG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik","entity_name":"ALG1","entity_type":"gene"},{"created":"2022-09-19T07:24:33.214273+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDOB was added\ngene: ALDOB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDOB were set to Fructose intolerance, MIM#229600","entity_name":"ALDOB","entity_type":"gene"},{"created":"2022-09-19T07:24:33.125753+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDH7A1 was added\ngene: ALDH7A1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green\nMode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, MIM#\t266100","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2022-09-19T07:24:33.009621+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDH5A1 was added\ngene: ALDH5A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2022-09-19T07:24:32.901198+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDH3A2 was added\ngene: ALDH3A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2022-09-19T07:24:32.796966+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDH18A1 was added\ngene: ALDH18A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2022-09-19T07:24:32.691790+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALB was added\ngene: ALB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALB were set to Analbuminemia","entity_name":"ALB","entity_type":"gene"},{"created":"2022-09-19T07:24:32.591218+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALAS2 was added\ngene: ALAS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ALAS2 were set to Anemia, sideroblastic, X-linked","entity_name":"ALAS2","entity_type":"gene"},{"created":"2022-09-19T07:24:32.491336+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AKR1D1 was added\ngene: AKR1D1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2022-09-19T07:24:32.337993+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AK2 was added\ngene: AK2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AK2 were set to Reticular dysgenesis, MIM#\t267500","entity_name":"AK2","entity_type":"gene"},{"created":"2022-09-19T07:24:32.231307+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AIRE was added\ngene: AIRE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia","entity_name":"AIRE","entity_type":"gene"},{"created":"2022-09-19T07:24:32.135868+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AIFM1 was added\ngene: AIFM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AIFM1 were set to Cowchock syndrome","entity_name":"AIFM1","entity_type":"gene"},{"created":"2022-09-19T07:24:32.024977+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AHI1 was added\ngene: AHI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AHI1 were set to Joubert syndrome-3","entity_name":"AHI1","entity_type":"gene"},{"created":"2022-09-19T07:24:31.912026+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AHCY was added\ngene: AHCY was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: AHCY was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#\t613752","entity_name":"AHCY","entity_type":"gene"},{"created":"2022-09-19T07:24:31.815049+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGXT was added\ngene: AGXT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1","entity_name":"AGXT","entity_type":"gene"},{"created":"2022-09-19T07:24:31.711522+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGRN was added\ngene: AGRN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGRN were set to Myasthenia, limb-girdle, familial, MIM#615120","entity_name":"AGRN","entity_type":"gene"},{"created":"2022-09-19T07:24:31.611330+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGL was added\ngene: AGL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGL were set to Glycogen storage disease IIIa, MIM#232400","entity_name":"AGL","entity_type":"gene"},{"created":"2022-09-19T07:24:31.507351+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGA was added\ngene: AGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGA were set to Aspartylglucosaminuria","entity_name":"AGA","entity_type":"gene"},{"created":"2022-09-19T07:24:31.410759+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADK was added\ngene: ADK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADK were set to Hypermethioninemia due to adenosine kinase deficiency","entity_name":"ADK","entity_type":"gene"},{"created":"2022-09-19T07:24:31.313381+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADGRV1 was added\ngene: ADGRV1 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C","entity_name":"ADGRV1","entity_type":"gene"},{"created":"2022-09-19T07:24:31.208373+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADGRG1 was added\ngene: ADGRG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2022-09-19T07:24:31.106776+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAR was added\ngene: ADAR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ADAR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome; Dyschromatosis symmetrica hereditaria","entity_name":"ADAR","entity_type":"gene"},{"created":"2022-09-19T07:24:31.009922+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAMTSL2 was added\ngene: ADAMTSL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1","entity_name":"ADAMTSL2","entity_type":"gene"},{"created":"2022-09-19T07:24:30.908834+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAMTS13 was added\ngene: ADAMTS13 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, MIM#274150","entity_name":"ADAMTS13","entity_type":"gene"},{"created":"2022-09-19T07:24:30.796163+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADA was added\ngene: ADA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADA were set to Severe combined immunodeficiency due to ADA deficiency, MIM#102700","entity_name":"ADA","entity_type":"gene"},{"created":"2022-09-19T07:24:30.690230+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACVRL1 was added\ngene: ACVRL1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM#600376","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2022-09-19T07:24:30.525605+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACVR1 was added\ngene: ACVR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-19T07:24:30.444018+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACTN4 was added\ngene: ACTN4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACTN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTN4 were set to Glomerulosclerosis, focal segmental, 1","entity_name":"ACTN4","entity_type":"gene"},{"created":"2022-09-19T07:24:30.318655+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACTN1 was added\ngene: ACTN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTN1 were set to Macrothrombocytopenia","entity_name":"ACTN1","entity_type":"gene"},{"created":"2022-09-19T07:24:30.223065+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACTG2 was added\ngene: ACTG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTG2 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome","entity_name":"ACTG2","entity_type":"gene"},{"created":"2022-09-19T07:24:30.129737+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACTG1 was added\ngene: ACTG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome; Deafness, autosomal dominant","entity_name":"ACTG1","entity_type":"gene"},{"created":"2022-09-19T07:24:30.030124+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACOX1 was added\ngene: ACOX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-09-19T07:24:29.928362+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACE was added\ngene: ACE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACE were set to Renal tubular dysgenesis","entity_name":"ACE","entity_type":"gene"},{"created":"2022-09-19T07:24:29.824508+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACAT1 was added\ngene: ACAT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, MIM#203750","entity_name":"ACAT1","entity_type":"gene"},{"created":"2022-09-19T07:24:29.788364+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACADVL was added\ngene: ACADVL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADVL were set to VLCAD deficiency, MIM#201475","entity_name":"ACADVL","entity_type":"gene"},{"created":"2022-09-19T07:24:29.688627+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACADM was added\ngene: ACADM was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADM were set to Medium chain acyl CoA dehydrogenase deficiency, MIM#201450","entity_name":"ACADM","entity_type":"gene"},{"created":"2022-09-19T07:24:29.588602+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACAD9 was added\ngene: ACAD9 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, MIM#611126","entity_name":"ACAD9","entity_type":"gene"},{"created":"2022-09-19T07:24:29.488384+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACAD8 was added\ngene: ACAD8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAD8 were set to Isobutyryl-CoA dehydrogenase deficiency","entity_name":"ACAD8","entity_type":"gene"},{"created":"2022-09-19T07:24:29.388656+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCG5 was added\ngene: ABCG5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCG5 were set to Sitosterolemia","entity_name":"ABCG5","entity_type":"gene"},{"created":"2022-09-19T07:24:29.292063+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCD4 was added\ngene: ABCD4 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCD4 were set to MAHCJ, MIM#614857; Methylmalonic aciduria and homocystinuria, cblJ TYPE","entity_name":"ABCD4","entity_type":"gene"},{"created":"2022-09-19T07:24:29.191914+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCD1 was added\ngene: ABCD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ABCD1 were set to Adrenoleukodystrophy","entity_name":"ABCD1","entity_type":"gene"},{"created":"2022-09-19T07:24:29.092334+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCC8 was added\ngene: ABCC8 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, MIM#256450","entity_name":"ABCC8","entity_type":"gene"},{"created":"2022-09-19T07:24:28.992532+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCC6 was added\ngene: ABCC6 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCC6 were set to Arterial calcification, generalized, of infancy, 2, #MIM614473","entity_name":"ABCC6","entity_type":"gene"},{"created":"2022-09-19T07:24:28.889267+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCC2 was added\ngene: ABCC2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: ABCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCC2 were set to 11477083; 30344695\nPhenotypes for gene: ABCC2 were set to Dubin-Johnson syndrome, MIM# 237500","entity_name":"ABCC2","entity_type":"gene"},{"created":"2022-09-19T07:24:28.800677+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCB4 was added\ngene: ABCB4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3","entity_name":"ABCB4","entity_type":"gene"},{"created":"2022-09-19T07:24:28.614307+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCB11 was added\ngene: ABCB11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2","entity_name":"ABCB11","entity_type":"gene"},{"created":"2022-09-19T07:24:28.518424+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCA4 was added\ngene: ABCA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCA4 were set to Stargardt disease","entity_name":"ABCA4","entity_type":"gene"},{"created":"2022-09-19T07:24:28.434050+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCA3 was added\ngene: ABCA3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3","entity_name":"ABCA3","entity_type":"gene"},{"created":"2022-09-19T07:24:28.319712+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCA12 was added\ngene: ABCA12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive","entity_name":"ABCA12","entity_type":"gene"},{"created":"2022-09-19T07:24:28.250695+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AARS was added\ngene: AARS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AARS were set to Charcot-Marie-Tooth disease","entity_name":"AARS","entity_type":"gene"},{"created":"2022-09-19T07:24:28.165404+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AAAS was added\ngene: AAAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome","entity_name":"AAAS","entity_type":"gene"},{"created":"2022-09-19T07:24:28.048193+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"panel","text":"Added panel gNBS","entity_name":null,"entity_type":null},{"created":"2022-09-19T07:22:05.717137+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.333","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GIF as ready","entity_name":"GIF","entity_type":"gene"}]}