{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1639","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1637","results":[{"created":"2020-08-27T21:04:49.045599+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARHGEF9 was added\ngene: ARHGEF9 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ARHGEF9 were set to Hyperekplexia and epilepsy","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-27T21:04:48.437995+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARHGAP31 was added\ngene: ARHGAP31 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ARHGAP31 were set to Syndromic cutis aplasia & limb anomalies","entity_name":"ARHGAP31","entity_type":"gene"},{"created":"2020-08-27T21:04:47.826809+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category C gene was added to AR.\nSource Expert Review Red was added to AR.\nAdded phenotypes Spinal and bulbar muscular atrophy of Kennedy for gene: AR\nRating Changed from Green List (high evidence) to Red List (low evidence)","entity_name":"AR","entity_type":"gene"},{"created":"2020-08-27T21:04:47.349836+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: APRT was added\ngene: APRT was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency","entity_name":"APRT","entity_type":"gene"},{"created":"2020-08-27T21:04:46.734929+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: APP was added\ngene: APP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: APP were set to Alzheimer disease 1, familial","entity_name":"APP","entity_type":"gene"},{"created":"2020-08-27T21:04:46.338519+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: APOE was added\ngene: APOE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: APOE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APOE were set to Sea-blue histiocyte disease","entity_name":"APOE","entity_type":"gene"},{"created":"2020-08-27T21:04:45.934116+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP4M1 was added\ngene: AP4M1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive","entity_name":"AP4M1","entity_type":"gene"},{"created":"2020-08-27T21:04:45.328394+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP1S3 was added\ngene: AP1S3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: AP1S3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AP1S3 were set to Pustular psoriasis","entity_name":"AP1S3","entity_type":"gene"},{"created":"2020-08-27T21:04:44.732069+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category C gene was added to ANO5.\nSource Expert Review Red was added to ANO5.\nMode of inheritance for gene ANO5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Gnathodiaphyseal dysplasia for gene: ANO5\nRating Changed from Green List (high evidence) to Red List (low evidence)","entity_name":"ANO5","entity_type":"gene"},{"created":"2020-08-27T21:04:43.857864+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category C gene was added to ANKRD1.\nSource Expert Review Red was added to ANKRD1.\nAdded phenotypes Cardiomyopathy, hypertrophic for gene: ANKRD1\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)","entity_name":"ANKRD1","entity_type":"gene"},{"created":"2020-08-27T21:04:43.437994+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AMPD1 was added\ngene: AMPD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMPD1 were set to Adenosine monophosphate deaminase deficiency","entity_name":"AMPD1","entity_type":"gene"},{"created":"2020-08-27T21:04:42.841679+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Alpha-methylacyl-CoA racemase deficiency for gene: AMACR","entity_name":"AMACR","entity_type":"gene"},{"created":"2020-08-27T21:04:42.231476+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AMACR was added\ngene: AMACR was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMACR were set to Bile acid synthesis defect, congenital, 4","entity_name":"AMACR","entity_type":"gene"},{"created":"2020-08-27T21:04:41.829314+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG9 was added\ngene: ALG9 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-08-27T21:04:41.429015+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG2 was added\ngene: ALG2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG2 were set to Congenital disorder of glycosylation, type Ii","entity_name":"ALG2","entity_type":"gene"},{"created":"2020-08-27T21:04:40.742472+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG11 was added\ngene: ALG11 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG11 were set to Congenital disorder of glycosylation type 1P","entity_name":"ALG11","entity_type":"gene"},{"created":"2020-08-27T21:04:40.344472+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDOA was added\ngene: ALDOA was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDOA were set to Aldolase A deficiency","entity_name":"ALDOA","entity_type":"gene"},{"created":"2020-08-27T21:04:39.948731+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDH4A1 was added\ngene: ALDH4A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH4A1 were set to Hyperprolinemia, type II","entity_name":"ALDH4A1","entity_type":"gene"},{"created":"2020-08-27T21:04:39.335590+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDH1A2 was added\ngene: ALDH1A2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ALDH1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ALDH1A2 were set to Tetralogy of Fallot","entity_name":"ALDH1A2","entity_type":"gene"},{"created":"2020-08-27T21:04:38.940290+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AKT3 was added\ngene: AKT3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-27T21:04:38.541474+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AKT2 was added\ngene: AKT2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AKT2 were set to Severe insulin resistance and diabetes mellitus","entity_name":"AKT2","entity_type":"gene"},{"created":"2020-08-27T21:04:38.144822+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AKAP9 was added\ngene: AKAP9 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: AKAP9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AKAP9 were set to Long QT syndrome","entity_name":"AKAP9","entity_type":"gene"},{"created":"2020-08-27T21:04:37.534241+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AK1 was added\ngene: AK1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: AK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AK1 were set to Hemolytic anemia due to adenylate kinase deficiency","entity_name":"AK1","entity_type":"gene"},{"created":"2020-08-27T21:04:37.138081+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AHSP was added\ngene: AHSP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: AHSP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AHSP were set to Thalassaemia","entity_name":"AHSP","entity_type":"gene"},{"created":"2020-08-27T21:04:36.741241+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGTR1 was added\ngene: AGTR1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGTR1 were set to Renal tubular dysgenesis","entity_name":"AGTR1","entity_type":"gene"},{"created":"2020-08-27T21:04:36.340580+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGT was added\ngene: AGT was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGT were set to Renal tubular dysgenesis","entity_name":"AGT","entity_type":"gene"},{"created":"2020-08-27T21:04:35.733237+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGPS was added\ngene: AGPS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGPS were set to Rhizomelic chondrodysplasia punctata, type 3","entity_name":"AGPS","entity_type":"gene"},{"created":"2020-08-27T21:04:35.333712+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAMTS2 was added\ngene: ADAMTS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome VIIc","entity_name":"ADAMTS2","entity_type":"gene"},{"created":"2020-08-27T21:04:34.940718+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAM17 was added\ngene: ADAM17 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAM17 were set to Neonatal inflammatory skin and bowel disease","entity_name":"ADAM17","entity_type":"gene"},{"created":"2020-08-27T21:04:34.334310+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACVR2B was added\ngene: ACVR2B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ACVR2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACVR2B were set to Left-right axis malformation","entity_name":"ACVR2B","entity_type":"gene"},{"created":"2020-08-27T21:04:33.739157+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category C gene was added to ACTN2.\nSource Expert Review Red was added to ACTN2.\nAdded phenotypes Cardiomyopathy, dilated for gene: ACTN2\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)","entity_name":"ACTN2","entity_type":"gene"},{"created":"2020-08-27T21:04:32.924727+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Left ventricular noncompaction for gene: ACTC1","entity_name":"ACTC1","entity_type":"gene"},{"created":"2020-08-27T21:04:32.335748+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category C gene was added to ACTC1.\nSource Expert Review Red was added to ACTC1.\nAdded phenotypes Atrial septal defect for gene: ACTC1\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)","entity_name":"ACTC1","entity_type":"gene"},{"created":"2020-08-27T21:04:31.451106+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category C gene was added to ACTB.\nSource Expert Review Red was added to ACTB.\nAdded phenotypes Neutrophil dysfunction and recurrent infection for gene: ACTB\nRating Changed from Green List (high evidence) to Red List (low evidence)","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-08-27T21:04:30.851568+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category C gene was added to ACTA1.\nSource Expert Review Red was added to ACTA1.\nAdded phenotypes Congenital myopathy with fiber type disproportion for gene: ACTA1\nRating Changed from Green List (high evidence) to Red List (low evidence)","entity_name":"ACTA1","entity_type":"gene"},{"created":"2020-08-27T21:04:30.439018+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACO2 was added\ngene: ACO2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACO2 were set to Cerebellar-retinal degeneration, infantile","entity_name":"ACO2","entity_type":"gene"},{"created":"2020-08-27T21:04:29.748912+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACBD5 was added\ngene: ACBD5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ACBD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACBD5 were set to Thrombocytopaenia","entity_name":"ACBD5","entity_type":"gene"},{"created":"2020-08-27T21:04:29.418920+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACADSB was added\ngene: ACADSB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADSB were set to 2-Methylbutyryl-CoA dehydrogenase deficiency","entity_name":"ACADSB","entity_type":"gene"},{"created":"2020-08-27T21:04:29.028596+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACADS was added\ngene: ACADS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of","entity_name":"ACADS","entity_type":"gene"},{"created":"2020-08-27T21:04:28.623435+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACADL was added\ngene: ACADL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ACADL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADL were set to Sudden infant death","entity_name":"ACADL","entity_type":"gene"},{"created":"2020-08-27T21:04:27.947998+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCD4 was added\ngene: ABCD4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCD4 were set to Methylmalonic aciduria and homocystinuria, cblJ type","entity_name":"ABCD4","entity_type":"gene"},{"created":"2020-08-27T21:04:27.420484+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category C gene was added to ABCC9.\nSource Expert Review Red was added to ABCC9.\nAdded phenotypes Atrial fibrillation, familial for gene: ABCC9\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)","entity_name":"ABCC9","entity_type":"gene"},{"created":"2020-08-27T21:04:26.943862+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCC2 was added\ngene: ABCC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ABCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCC2 were set to Dubin-Johnson syndrome","entity_name":"ABCC2","entity_type":"gene"},{"created":"2020-08-27T21:04:26.334331+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCB7 was added\ngene: ABCB7 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ABCB7 were set to Sideroblastic anaemia and ataxia","entity_name":"ABCB7","entity_type":"gene"},{"created":"2020-08-27T21:04:25.934411+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABAT was added\ngene: ABAT was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABAT were set to GABA-transaminase deficiency","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-27T21:04:25.540804+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AARS2 was added\ngene: AARS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AARS2 were set to Leukoencephalopathy, and ovarian failure in females","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-27T21:04:24.735495+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category B gene was added to WT1.\nSource Expert Review Amber was added to WT1.\nAdded phenotypes Wilms tumor, type 1 for gene: WT1\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)","entity_name":"WT1","entity_type":"gene"},{"created":"2020-08-27T21:04:24.329305+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VWF was added\ngene: VWF was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: VWF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VWF were set to von Willebrand disease","entity_name":"VWF","entity_type":"gene"},{"created":"2020-08-27T21:04:23.938136+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VCL was added\ngene: VCL was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VCL were set to Cardiomyopathy, dilated","entity_name":"VCL","entity_type":"gene"},{"created":"2020-08-27T21:04:23.123035+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category B gene was added to TTN.\nSource Expert Review Amber was added to TTN.\nMode of inheritance for gene TTN was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Cardiomyopathy, dilated for gene: TTN\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)","entity_name":"TTN","entity_type":"gene"},{"created":"2020-08-27T21:04:22.647972+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TPM1 was added\ngene: TPM1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TPM1 were set to Cardiomyopathy, hypertrophic","entity_name":"TPM1","entity_type":"gene"},{"created":"2020-08-27T21:04:21.918657+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Familial hypertrophic cardiomyopathy for gene: TNNT2","entity_name":"TNNT2","entity_type":"gene"},{"created":"2020-08-27T21:04:21.525248+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TNNT2 was added\ngene: TNNT2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TNNT2 were set to Cardiomyopathy, dilated","entity_name":"TNNT2","entity_type":"gene"},{"created":"2020-08-27T21:04:20.930029+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Familial hypertrophic cardiomyopathy for gene: TNNI3","entity_name":"TNNI3","entity_type":"gene"},{"created":"2020-08-27T21:04:20.317434+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TNNI3 was added\ngene: TNNI3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: TNNI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TNNI3 were set to Cardiomyopathy, dilated","entity_name":"TNNI3","entity_type":"gene"},{"created":"2020-08-27T21:04:19.932518+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TNNC1 was added\ngene: TNNC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TNNC1 were set to Cardiomyopathy, dilated","entity_name":"TNNC1","entity_type":"gene"},{"created":"2020-08-27T21:04:19.537160+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TINF2 was added\ngene: TINF2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TINF2 were set to Dyskeratosis congenita","entity_name":"TINF2","entity_type":"gene"},{"created":"2020-08-27T21:04:19.140444+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TERT was added\ngene: TERT was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: TERT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TERT were set to Dyskeratosis congenita","entity_name":"TERT","entity_type":"gene"},{"created":"2020-08-27T21:04:18.531014+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TERC was added\ngene: TERC was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TERC were set to Dyskeratosis congenita","entity_name":"TERC","entity_type":"gene"},{"created":"2020-08-27T21:04:18.134396+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SNTA1 was added\ngene: SNTA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: SNTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SNTA1 were set to Long QT syndrome","entity_name":"SNTA1","entity_type":"gene"},{"created":"2020-08-27T21:04:17.741740+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SDHC was added\ngene: SDHC was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHC were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes","entity_name":"SDHC","entity_type":"gene"},{"created":"2020-08-27T21:04:17.137049+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SDHB was added\ngene: SDHB was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHB were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes","entity_name":"SDHB","entity_type":"gene"},{"created":"2020-08-27T21:04:16.745922+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SDHAF2 was added\ngene: SDHAF2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHAF2 were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes","entity_name":"SDHAF2","entity_type":"gene"},{"created":"2020-08-27T21:04:16.226076+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Brugada syndrome for gene: SCN5A","entity_name":"SCN5A","entity_type":"gene"},{"created":"2020-08-27T21:04:15.553917+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN5A was added\ngene: SCN5A was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN5A were set to Long QT syndrome","entity_name":"SCN5A","entity_type":"gene"},{"created":"2020-08-27T21:04:15.047469+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category B gene was added to RYR1.\nSource Expert Review Amber was added to RYR1.\nMode of inheritance for gene RYR1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Malignant hyperthermia for gene: RYR1\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)","entity_name":"RYR1","entity_type":"gene"},{"created":"2020-08-27T21:04:14.627321+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RBM20 was added\ngene: RBM20 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD","entity_name":"RBM20","entity_type":"gene"},{"created":"2020-08-27T21:04:13.821498+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category B gene was added to PRKAG2.\nSource Expert Review Amber was added to PRKAG2.\nAdded phenotypes Cardiomyopathy, hypertrophic for gene: PRKAG2\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)","entity_name":"PRKAG2","entity_type":"gene"},{"created":"2020-08-27T21:04:13.355707+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLN was added\ngene: PLN was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PLN were set to Cardiomyopathy, dilated","entity_name":"PLN","entity_type":"gene"},{"created":"2020-08-27T21:04:12.746259+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PKP2 was added\ngene: PKP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9","entity_name":"PKP2","entity_type":"gene"},{"created":"2020-08-27T21:04:12.420567+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PHOX2B was added\ngene: PHOX2B was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PHOX2B were set to Central hypoventilation syndrome","entity_name":"PHOX2B","entity_type":"gene"},{"created":"2020-08-27T21:04:12.027168+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCSK9 was added\ngene: PCSK9 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PCSK9 were set to Hypercholesterolemia","entity_name":"PCSK9","entity_type":"gene"},{"created":"2020-08-27T21:04:11.633378+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NKX2-5 was added\ngene: NKX2-5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NKX2-5 were set to Congenital heart disease","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2020-08-27T21:04:10.957498+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYLK was added\ngene: MYLK was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7","entity_name":"MYLK","entity_type":"gene"},{"created":"2020-08-27T21:04:10.629831+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYL3 was added\ngene: MYL3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: MYL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYL3 were set to Cardiomyopathy, familial hypertrophic, 8","entity_name":"MYL3","entity_type":"gene"},{"created":"2020-08-27T21:04:10.233233+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYL2 was added\ngene: MYL2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: MYL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYL2 were set to Cardiomyopathy, familial hypertrophic, 10","entity_name":"MYL2","entity_type":"gene"},{"created":"2020-08-27T21:04:09.435930+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Left ventricular noncompaction for gene: MYH7","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-08-27T21:04:08.841386+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Cardiomyopathy, dilated for gene: MYH7","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-08-27T21:04:08.030792+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category B gene was added to MYH7.\nSource Expert Review Amber was added to MYH7.\nAdded phenotypes Cardiomyopathy, familial hypertrophic for gene: MYH7\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-08-27T21:04:07.629552+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYH11 was added\ngene: MYH11 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4","entity_name":"MYH11","entity_type":"gene"},{"created":"2020-08-27T21:04:07.235763+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYBPC3 was added\ngene: MYBPC3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: MYBPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYBPC3 were set to Cardiomyopathy, familial hypertrophic","entity_name":"MYBPC3","entity_type":"gene"},{"created":"2020-08-27T21:04:06.842405+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTHFR was added\ngene: MTHFR was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency","entity_name":"MTHFR","entity_type":"gene"},{"created":"2020-08-27T21:04:06.232074+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCCC2 was added\ngene: MCCC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCCC2 were set to 3-Methylcrotonyl-CoA carboxylase 2 deficiency","entity_name":"MCCC2","entity_type":"gene"},{"created":"2020-08-27T21:04:05.840137+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCCC1 was added\ngene: MCCC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency","entity_name":"MCCC1","entity_type":"gene"},{"created":"2020-08-27T21:04:05.252333+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category B gene was added to LMNA.\nSource Expert Review Amber was added to LMNA.\nMode of inheritance for gene LMNA was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Dilated cardiomyopathy for gene: LMNA\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)","entity_name":"LMNA","entity_type":"gene"},{"created":"2020-08-27T21:04:04.421934+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category B gene was added to KCNQ1.\nSource Expert Review Amber was added to KCNQ1.\nMode of inheritance for gene KCNQ1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Long QT syndrome-1 for gene: KCNQ1\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2020-08-27T21:04:04.020903+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNH2 was added\ngene: KCNH2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNH2 were set to Long QT syndrome-2","entity_name":"KCNH2","entity_type":"gene"},{"created":"2020-08-27T21:04:03.634035+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNE2 was added\ngene: KCNE2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: KCNE2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNE2 were set to Long QT syndrome-6","entity_name":"KCNE2","entity_type":"gene"},{"created":"2020-08-27T21:04:02.753936+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category B gene was added to KCNE1.\nSource Expert Review Amber was added to KCNE1.\nMode of inheritance for gene KCNE1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Long QT syndrome-5 for gene: KCNE1\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)","entity_name":"KCNE1","entity_type":"gene"},{"created":"2020-08-27T21:04:02.348482+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNA5 was added\ngene: KCNA5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: KCNA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNA5 were set to Atrial fibrillation","entity_name":"KCNA5","entity_type":"gene"},{"created":"2020-08-27T21:04:01.545010+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category B gene was added to JUP.\nSource Expert Review Amber was added to JUP.\nMode of inheritance for gene JUP was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Arrhythmogenic right ventricular dysplasia 12 for gene: JUP\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)","entity_name":"JUP","entity_type":"gene"},{"created":"2020-08-27T21:04:01.145767+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GPD1L was added\ngene: GPD1L was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: GPD1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GPD1L were set to Brugada syndrome","entity_name":"GPD1L","entity_type":"gene"},{"created":"2020-08-27T21:04:00.742124+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GJA5 was added\ngene: GJA5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: GJA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GJA5 were set to Atrial fibrillation","entity_name":"GJA5","entity_type":"gene"},{"created":"2020-08-27T21:04:00.133402+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GCH1 was added\ngene: GCH1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: GCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GCH1 were set to Dystonia, dopa-responsive","entity_name":"GCH1","entity_type":"gene"},{"created":"2020-08-27T21:03:59.540680+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category B gene was added to DSP.\nSource Expert Review Amber was added to DSP.\nAdded phenotypes Arrhythmogenic right ventricular dysplasia/cardiomyopathy for gene: DSP\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)","entity_name":"DSP","entity_type":"gene"},{"created":"2020-08-27T21:03:59.138034+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DSG2 was added\ngene: DSG2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular cardiomyopathy","entity_name":"DSG2","entity_type":"gene"},{"created":"2020-08-27T21:03:58.451652+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DSC2 was added\ngene: DSC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: DSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular cardiomyopathy","entity_name":"DSC2","entity_type":"gene"},{"created":"2020-08-27T21:03:57.926591+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category B gene was added to DMD.\nSource Expert Review Amber was added to DMD.\nAdded phenotypes Cardiomyopathy, dilated for gene: DMD\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)","entity_name":"DMD","entity_type":"gene"},{"created":"2020-08-27T21:03:57.522287+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DKC1 was added\ngene: DKC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DKC1 were set to Dyskeratosis congenita","entity_name":"DKC1","entity_type":"gene"},{"created":"2020-08-27T21:03:56.720378+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Source BabySeq Category B gene was added to DES.\nSource Expert Review Amber was added to DES.\nAdded phenotypes Cardiomyopathy, dilated for gene: DES\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)","entity_name":"DES","entity_type":"gene"}]}