{"count":221303,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1652","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1650","results":[{"created":"2020-08-27T20:02:17.753741+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: B3GLCT was added\ngene: B3GLCT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:17.639906+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AVPR2 was added\ngene: AVPR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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","entity_name":"AVPR2","entity_type":"gene"},{"created":"2020-08-27T20:02:17.523076+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AUH was added\ngene: AUH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:17.351898+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATRX was added\ngene: ATRX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:17.236020+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP8B1 was added\ngene: ATP8B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:17.121919+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP7B was added\ngene: ATP7B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:16.941778+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Occipital horn syndrome for gene: ATP7A","entity_name":"ATP7A","entity_type":"gene"},{"created":"2020-08-27T20:02:16.826950+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP7A was added\ngene: ATP7A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A 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 syndrome","entity_name":"ATP7A","entity_type":"gene"},{"created":"2020-08-27T20:02:16.654454+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP6V1B1 was added\ngene: ATP6V1B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2020-08-27T20:02:16.538990+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP6V0A2 was added\ngene: ATP6V0A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:16.424292+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP2A1 was added\ngene: ATP2A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:16.253007+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP1A2 was added\ngene: ATP1A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:16.138669+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATM was added\ngene: ATM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:16.023665+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASS1 was added\ngene: ASS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASS1 were set to Citrullinemia","entity_name":"ASS1","entity_type":"gene"},{"created":"2020-08-27T20:02:15.851520+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASPA was added\ngene: ASPA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:15.740559+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASL was added\ngene: ASL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASL were set to Argininosuccinic aciduria","entity_name":"ASL","entity_type":"gene"},{"created":"2020-08-27T20:02:15.629365+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARX was added\ngene: ARX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:15.448980+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARSB was added\ngene: ARSB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:15.325905+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARSA was added\ngene: ARSA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:15.153264+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARMC4 was added\ngene: ARMC4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:15.065352+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARID1B was added\ngene: ARID1B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:14.923085+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARG1 was added\ngene: ARG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARG1 were set to Arginase deficiency","entity_name":"ARG1","entity_type":"gene"},{"created":"2020-08-27T20:02:14.750896+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARFGEF2 was added\ngene: ARFGEF2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:14.638501+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AR was added\ngene: AR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A 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","entity_name":"AR","entity_type":"gene"},{"created":"2020-08-27T20:02:14.525481+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: APTX was added\ngene: APTX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:14.354373+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: APOB was added\ngene: APOB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:14.237154+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Adenomatous polyposis coli, attenuated for gene: APC","entity_name":"APC","entity_type":"gene"},{"created":"2020-08-27T20:02:14.125607+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: APC was added\ngene: APC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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","entity_name":"APC","entity_type":"gene"},{"created":"2020-08-27T20:02:13.953639+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP3B1 was added\ngene: AP3B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:13.844394+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANTXR2 was added\ngene: ANTXR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:13.732607+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANO5 was added\ngene: ANO5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANO5 were set to Muscular dystrophy, limb-girdle, type 2L","entity_name":"ANO5","entity_type":"gene"},{"created":"2020-08-27T20:02:13.618700+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANO10 was added\ngene: ANO10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:13.449925+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANKRD26 was added\ngene: ANKRD26 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:13.337628+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANKH was added\ngene: ANKH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:13.224194+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANK1 was added\ngene: ANK1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:13.058594+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AMT was added\ngene: AMT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:12.944768+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AMN was added\ngene: AMN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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","entity_name":"AMN","entity_type":"gene"},{"created":"2020-08-27T20:02:12.840686+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AMELX was added\ngene: AMELX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:12.723130+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALX4 was added\ngene: ALX4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:12.560713+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALS2 was added\ngene: ALS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:12.446357+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALPL was added\ngene: ALPL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALPL were set to Hypophosphatasia","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-08-27T20:02:12.335933+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALOXE3 was added\ngene: ALOXE3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:12.225352+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALOX12B was added\ngene: ALOX12B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:12.059293+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALMS1 was added\ngene: ALMS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:11.948733+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG8 was added\ngene: ALG8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:11.837333+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG6 was added\ngene: ALG6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:11.723088+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG3 was added\ngene: ALG3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:11.553446+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG12 was added\ngene: ALG12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:11.446092+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG1 was added\ngene: ALG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:11.337421+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDOB was added\ngene: ALDOB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDOB were set to Fructose intolerance","entity_name":"ALDOB","entity_type":"gene"},{"created":"2020-08-27T20:02:11.224874+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDH5A1 was added\ngene: ALDH5A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:11.063613+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDH3A2 was added\ngene: ALDH3A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:10.947559+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDH18A1 was added\ngene: ALDH18A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:10.840238+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALB was added\ngene: ALB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:10.731737+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALAS2 was added\ngene: ALAS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:10.619297+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AKR1D1 was added\ngene: AKR1D1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:10.452695+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AIRE was added\ngene: AIRE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:10.349423+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AIFM1 was added\ngene: AIFM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:10.241296+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AHI1 was added\ngene: AHI1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:10.133577+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGXT was added\ngene: AGXT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:10.023143+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGRN was added\ngene: AGRN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGRN were set to Myasthenia, limb-girdle, familial","entity_name":"AGRN","entity_type":"gene"},{"created":"2020-08-27T20:02:09.858169+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGL was added\ngene: AGL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGL were set to Glycogen storage disease IIIa","entity_name":"AGL","entity_type":"gene"},{"created":"2020-08-27T20:02:09.749574+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGA was added\ngene: AGA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:09.642930+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADK was added\ngene: ADK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:09.529121+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Dyschromatosis symmetrica hereditaria for gene: ADAR","entity_name":"ADAR","entity_type":"gene"},{"created":"2020-08-27T20:02:09.421833+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAR was added\ngene: ADAR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome","entity_name":"ADAR","entity_type":"gene"},{"created":"2020-08-27T20:02:09.252621+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAMTSL2 was added\ngene: ADAMTSL2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:09.146530+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAMTS13 was added\ngene: ADAMTS13 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial","entity_name":"ADAMTS13","entity_type":"gene"},{"created":"2020-08-27T20:02:09.042373+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADA was added\ngene: ADA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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","entity_name":"ADA","entity_type":"gene"},{"created":"2020-08-27T20:02:08.933601+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACVRL1 was added\ngene: ACVRL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2020-08-27T20:02:08.824399+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACVR1 was added\ngene: ACVR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:08.718811+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACTN4 was added\ngene: ACTN4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:08.553743+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACTN1 was added\ngene: ACTN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:08.450397+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACTG2 was added\ngene: ACTG2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:08.344840+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Baraitser-Winter syndrome for gene: ACTG1","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-08-27T20:02:08.231179+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACTG1 was added\ngene: ACTG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTG1 were set to Deafness, autosomal dominant","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-08-27T20:02:08.126007+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACTB was added\ngene: ACTB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTB were set to Baraitser-Winter syndrome","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-08-27T20:02:08.017438+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACTA1 was added\ngene: ACTA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTA1 were set to Nemaline myopathy","entity_name":"ACTA1","entity_type":"gene"},{"created":"2020-08-27T20:02:07.851464+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACSF3 was added\ngene: ACSF3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria","entity_name":"ACSF3","entity_type":"gene"},{"created":"2020-08-27T20:02:07.749305+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACOX1 was added\ngene: ACOX1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:07.646100+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACE was added\ngene: ACE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:07.537581+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACAT1 was added\ngene: ACAT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria","entity_name":"ACAT1","entity_type":"gene"},{"created":"2020-08-27T20:02:07.431583+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACADVL was added\ngene: ACADVL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADVL were set to VLCAD deficiency","entity_name":"ACADVL","entity_type":"gene"},{"created":"2020-08-27T20:02:07.324627+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACADM was added\ngene: ACADM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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","entity_name":"ACADM","entity_type":"gene"},{"created":"2020-08-27T20:02:07.160107+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACAD9 was added\ngene: ACAD9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAD9 were set to ACAD9 deficiency","entity_name":"ACAD9","entity_type":"gene"},{"created":"2020-08-27T20:02:07.089794+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACAD8 was added\ngene: ACAD8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:06.946153+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCG5 was added\ngene: ABCG5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:06.843859+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCD1 was added\ngene: ABCD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:06.738557+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCC9 was added\ngene: ABCC9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ABCC9 were set to Hypertrichotic osteochondrodysplasia","entity_name":"ABCC9","entity_type":"gene"},{"created":"2020-08-27T20:02:06.633341+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCC8 was added\ngene: ABCC8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ABCC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial","entity_name":"ABCC8","entity_type":"gene"},{"created":"2020-08-27T20:02:06.524665+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCC6 was added\ngene: ABCC6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCC6 were set to Pseudoxanthoma elasticum","entity_name":"ABCC6","entity_type":"gene"},{"created":"2020-08-27T20:02:06.421422+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCB4 was added\ngene: ABCB4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:06.259137+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCB11 was added\ngene: ABCB11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:06.154539+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCA4 was added\ngene: ABCA4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:06.054226+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCA3 was added\ngene: ABCA3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:05.949015+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCA12 was added\ngene: ABCA12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:05.841029+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AARS was added\ngene: AARS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:05.737470+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AAAS was added\ngene: AAAS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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":"2020-08-27T20:02:04.791685+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"panel","text":"Added panel Newborn Screening_BabySeq","entity_name":null,"entity_type":null},{"created":"2020-08-27T18:08:31.912734+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.68","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: C9orf72 as Green List (high evidence)","entity_name":"C9orf72","entity_type":"gene"}]}