{"count":221277,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1645","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1643","results":[{"created":"2020-08-27T21:01:00.632727+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: INVS was added\ngene: INVS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INVS were set to Nephronophthisis 2","entity_name":"INVS","entity_type":"gene"},{"created":"2020-08-27T21:01:00.353513+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: INSR was added\ngene: INSR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INSR were set to Leprechaunism","entity_name":"INSR","entity_type":"gene"},{"created":"2020-08-27T21:01:00.147838+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ILDR1 was added\ngene: ILDR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ILDR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ILDR1 were set to Deafness, autosomal recessive","entity_name":"ILDR1","entity_type":"gene"},{"created":"2020-08-27T21:00:59.842555+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IL2RG was added\ngene: IL2RG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked","entity_name":"IL2RG","entity_type":"gene"},{"created":"2020-08-27T21:00:59.636836+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IL10RA was added\ngene: IL10RA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL10RA were set to Inflammatory bowel disease","entity_name":"IL10RA","entity_type":"gene"},{"created":"2020-08-27T21:00:59.421047+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IKBKG was added\ngene: IKBKG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IKBKG were set to Incontinentia pigmenti 1","entity_name":"IKBKG","entity_type":"gene"},{"created":"2020-08-27T21:00:59.146726+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ELP1 was added\ngene: ELP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ELP1 were set to Dysautonomia, familial","entity_name":"ELP1","entity_type":"gene"},{"created":"2020-08-27T21:00:58.717473+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IGSF1 was added\ngene: IGSF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IGSF1 were set to Central hypothyroidism and testicular enlargement","entity_name":"IGSF1","entity_type":"gene"},{"created":"2020-08-27T21:00:58.441484+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IGHMBP2 was added\ngene: IGHMBP2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGHMBP2 were set to Spinal muscular atrophy with respiratory distress","entity_name":"IGHMBP2","entity_type":"gene"},{"created":"2020-08-27T21:00:58.232514+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IDUA was added\ngene: IDUA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih","entity_name":"IDUA","entity_type":"gene"},{"created":"2020-08-27T21:00:57.951603+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IDS was added\ngene: IDS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IDS were set to Mucopolysaccharidosis II","entity_name":"IDS","entity_type":"gene"},{"created":"2020-08-27T21:00:57.738636+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HTRA1 was added\ngene: HTRA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HTRA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HTRA1 were set to CARASIL syndrome","entity_name":"HTRA1","entity_type":"gene"},{"created":"2020-08-27T21:00:57.523923+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSPG2 was added\ngene: HSPG2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome","entity_name":"HSPG2","entity_type":"gene"},{"created":"2020-08-27T21:00:57.244534+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSPB8 was added\ngene: HSPB8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HSPB8 were set to Charcot-Marie-Tooth disease, axonal, type 2L","entity_name":"HSPB8","entity_type":"gene"},{"created":"2020-08-27T21:00:57.041788+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSD3B7 was added\ngene: HSD3B7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD3B7 were set to 3 beta-hydroxysteroid dehydrogenase deficiency","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2020-08-27T21:00:56.820823+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSD17B4 was added\ngene: HSD17B4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2020-08-27T21:00:56.544227+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSD17B3 was added\ngene: HSD17B3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia","entity_name":"HSD17B3","entity_type":"gene"},{"created":"2020-08-27T21:00:56.334162+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSD17B10 was added\ngene: HSD17B10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HSD17B10 were set to 17-beta-hydroxysteroid dehydrogenase X deficiency","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2020-08-27T21:00:55.841470+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HRAS was added\ngene: HRAS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HRAS were set to Costello syndrome","entity_name":"HRAS","entity_type":"gene"},{"created":"2020-08-27T21:00:55.631155+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HPS5 was added\ngene: HPS5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5","entity_name":"HPS5","entity_type":"gene"},{"created":"2020-08-27T21:00:55.418720+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HPS4 was added\ngene: HPS4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4","entity_name":"HPS4","entity_type":"gene"},{"created":"2020-08-27T21:00:55.150386+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HPS3 was added\ngene: HPS3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3","entity_name":"HPS3","entity_type":"gene"},{"created":"2020-08-27T21:00:54.939697+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HPS1 was added\ngene: HPS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1","entity_name":"HPS1","entity_type":"gene"},{"created":"2020-08-27T21:00:54.733928+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HPRT1 was added\ngene: HPRT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome 1","entity_name":"HPRT1","entity_type":"gene"},{"created":"2020-08-27T21:00:54.523857+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HMGCL was added\ngene: HMGCL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HMGCL were set to 3-hydroxy-3-methylglutaric aciduria","entity_name":"HMGCL","entity_type":"gene"},{"created":"2020-08-27T21:00:54.250459+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HLCS was added\ngene: HLCS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency","entity_name":"HLCS","entity_type":"gene"},{"created":"2020-08-27T21:00:54.045987+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HINT1 was added\ngene: HINT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HINT1 were set to Axonal neuropathy with neuromyotonia","entity_name":"HINT1","entity_type":"gene"},{"created":"2020-08-27T21:00:53.829919+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HGSNAT was added\ngene: HGSNAT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HGSNAT were set to Mucopolysaccharidosis IIIC","entity_name":"HGSNAT","entity_type":"gene"},{"created":"2020-08-27T21:00:53.617447+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HGD was added\ngene: HGD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HGD were set to Alkaptonuria","entity_name":"HGD","entity_type":"gene"},{"created":"2020-08-27T21:00:53.347478+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HEXB was added\ngene: HEXB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms","entity_name":"HEXB","entity_type":"gene"},{"created":"2020-08-27T21:00:53.140244+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HEXA was added\ngene: HEXA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXA were set to Tay-Sachs disease","entity_name":"HEXA","entity_type":"gene"},{"created":"2020-08-27T21:00:52.933687+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HDAC8 was added\ngene: HDAC8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle","entity_name":"HDAC8","entity_type":"gene"},{"created":"2020-08-27T21:00:52.723412+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HBB was added\ngene: HBB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HBB were set to Beta-thalassemia","entity_name":"HBB","entity_type":"gene"},{"created":"2020-08-27T21:00:52.452023+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HBA2 was added\ngene: HBA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HBA2 were set to Thalassemia, alpha","entity_name":"HBA2","entity_type":"gene"},{"created":"2020-08-27T21:00:52.030976+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HBA1 was added\ngene: HBA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HBA1 were set to Thalassaemia alpha","entity_name":"HBA1","entity_type":"gene"},{"created":"2020-08-27T21:00:51.821893+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HADHB was added\ngene: HADHB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHB were set to Mitochondrial trifunctional protein deficiency","entity_name":"HADHB","entity_type":"gene"},{"created":"2020-08-27T21:00:51.547906+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HADHA was added\ngene: HADHA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHA were set to Mitochondrial trifunctional protein deficiency","entity_name":"HADHA","entity_type":"gene"},{"created":"2020-08-27T21:00:51.338592+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HADH was added\ngene: HADH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADH were set to Hyperinsulinemic hypoglycemia, familial, 4","entity_name":"HADH","entity_type":"gene"},{"created":"2020-08-27T21:00:51.135890+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: H19 was added\ngene: H19 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: H19 was set to Unknown\nPhenotypes for gene: H19 were set to Beckwith-Wiedemann Syndrome","entity_name":"H19","entity_type":"gene"},{"created":"2020-08-27T21:00:50.927246+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GYS2 was added\ngene: GYS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GYS2 were set to Glycogen storage disease 0","entity_name":"GYS2","entity_type":"gene"},{"created":"2020-08-27T21:00:50.718720+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GUSB was added\ngene: GUSB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GUSB were set to Mucopolysaccharidosis VII","entity_name":"GUSB","entity_type":"gene"},{"created":"2020-08-27T21:00:50.451664+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GSS was added\ngene: GSS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GSS were set to Glutathione synthetase deficiency","entity_name":"GSS","entity_type":"gene"},{"created":"2020-08-27T21:00:50.249199+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRHPR was added\ngene: GRHPR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II","entity_name":"GRHPR","entity_type":"gene"},{"created":"2020-08-27T21:00:50.055480+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GPSM2 was added\ngene: GPSM2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome","entity_name":"GPSM2","entity_type":"gene"},{"created":"2020-08-27T21:00:49.746413+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Usher syndrome for gene: PDZD7","entity_name":"PDZD7","entity_type":"gene"},{"created":"2020-08-27T21:00:49.445590+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Polymicrogyria, bilateral frontoparietal for gene: ADGRG1","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2020-08-27T21:00:49.151034+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Ocular albinism, type I for gene: GPR143","entity_name":"GPR143","entity_type":"gene"},{"created":"2020-08-27T21:00:48.635533+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Simpson-Golabi-Behmel syndrome for gene: GPC3","entity_name":"GPC3","entity_type":"gene"},{"created":"2020-08-27T21:00:48.341528+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Mucopolysaccharidosis IIId for gene: GNS","entity_name":"GNS","entity_type":"gene"},{"created":"2020-08-27T21:00:48.044600+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Mucolipidosis III gamma for gene: GNPTG","entity_name":"GNPTG","entity_type":"gene"},{"created":"2020-08-27T21:00:47.750475+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Mucolipidosis II for gene: GNPTAB","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2020-08-27T21:00:47.456873+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Inclusion body myopathy for gene: GNE","entity_name":"GNE","entity_type":"gene"},{"created":"2020-08-27T21:00:47.222844+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Pseudopseudohypoparathyroidism for gene: GNAS","entity_name":"GNAS","entity_type":"gene"},{"created":"2020-08-27T21:00:46.926256+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Pseudohypoparathyroidism for gene: GNAS","entity_name":"GNAS","entity_type":"gene"},{"created":"2020-08-27T21:00:46.624711+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Hyperinsulinism for gene: GLUD1","entity_name":"GLUD1","entity_type":"gene"},{"created":"2020-08-27T21:00:46.327863+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Hyperekplexia, hereditary 1, autosomal dominant or recessive for gene: GLRA1","entity_name":"GLRA1","entity_type":"gene"},{"created":"2020-08-27T21:00:45.747013+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Greig cephalopolysyndactyly syndrome for gene: GLI3","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-08-27T21:00:45.451894+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Glycine encephalopathy for gene: GLDC","entity_name":"GLDC","entity_type":"gene"},{"created":"2020-08-27T21:00:45.161240+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Gangliosidosis GM1 for gene: GLB1","entity_name":"GLB1","entity_type":"gene"},{"created":"2020-08-27T21:00:44.918698+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Fabry disease for gene: GLA","entity_name":"GLA","entity_type":"gene"},{"created":"2020-08-27T21:00:44.621661+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Pelizaeus-Merzbacher-like disease for gene: GJC2","entity_name":"GJC2","entity_type":"gene"},{"created":"2020-08-27T21:00:44.321628+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene GJB2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Deafness and palmoplantar keratoderma for gene: GJB2","entity_name":"GJB2","entity_type":"gene"},{"created":"2020-08-27T21:00:44.024002+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene GJB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Deafness for gene: GJB2","entity_name":"GJB2","entity_type":"gene"},{"created":"2020-08-27T21:00:43.721716+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Charcot-Marie-Tooth neuropathy for gene: GJB1","entity_name":"GJB1","entity_type":"gene"},{"created":"2020-08-27T21:00:43.427663+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Oculodentodigital dysplasia for gene: GJA1","entity_name":"GJA1","entity_type":"gene"},{"created":"2020-08-27T21:00:43.133521+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Hearing loss for gene: GIPC3","entity_name":"GIPC3","entity_type":"gene"},{"created":"2020-08-27T21:00:42.557630+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Congenital myasthenic syndrome, limb-girdle for gene: GFPT1","entity_name":"GFPT1","entity_type":"gene"},{"created":"2020-08-27T21:00:42.318778+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Combined oxidative phosphorylation deficiency 1 for gene: GFM1","entity_name":"GFM1","entity_type":"gene"},{"created":"2020-08-27T21:00:42.018954+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Alexander disease for gene: GFAP","entity_name":"GFAP","entity_type":"gene"},{"created":"2020-08-27T21:00:41.717447+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Charcot-Marie-Tooth disease for gene: GDAP1","entity_name":"GDAP1","entity_type":"gene"},{"created":"2020-08-27T21:00:41.352164+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Hyperinsulinemic hypoglycemia, familial for gene: GCK","entity_name":"GCK","entity_type":"gene"},{"created":"2020-08-27T21:00:41.069142+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Glutaricaciduria, type I for gene: GCDH","entity_name":"GCDH","entity_type":"gene"},{"created":"2020-08-27T21:00:40.822032+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Glycogen storage disease IV for gene: GBE1","entity_name":"GBE1","entity_type":"gene"},{"created":"2020-08-27T21:00:40.523260+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Gaucher disease 1 for gene: GBA","entity_name":"GBA","entity_type":"gene"},{"created":"2020-08-27T21:00:39.947692+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Congenital heart defects for gene: GATA4","entity_name":"GATA4","entity_type":"gene"},{"created":"2020-08-27T21:00:39.645881+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Dyserythropoietic anemia with thrombocytopenia for gene: GATA1","entity_name":"GATA1","entity_type":"gene"},{"created":"2020-08-27T21:00:39.345235+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Giant axonal neuropathy for gene: GAN","entity_name":"GAN","entity_type":"gene"},{"created":"2020-08-27T21:00:39.050610+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Galactosaemia for gene: GALT","entity_name":"GALT","entity_type":"gene"},{"created":"2020-08-27T21:00:38.749275+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Mucopolysaccharidosis IVA for gene: GALNS","entity_name":"GALNS","entity_type":"gene"},{"created":"2020-08-27T21:00:38.454637+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Galactokinase deficiency with cataracts for gene: GALK1","entity_name":"GALK1","entity_type":"gene"},{"created":"2020-08-27T21:00:38.220739+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Krabbe disease for gene: GALC","entity_name":"GALC","entity_type":"gene"},{"created":"2020-08-27T21:00:37.923442+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Glycogen storage disease II for gene: GAA","entity_name":"GAA","entity_type":"gene"},{"created":"2020-08-27T21:00:37.627936+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Glucose-6-phosphate dehydrogenase deficiency for gene: G6PD","entity_name":"G6PD","entity_type":"gene"},{"created":"2020-08-27T21:00:37.051278+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Neutropaenia, congenital for gene: G6PC3","entity_name":"G6PC3","entity_type":"gene"},{"created":"2020-08-27T21:00:36.746666+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Glycogen storage disease Ia for gene: G6PC","entity_name":"G6PC","entity_type":"gene"},{"created":"2020-08-27T21:00:36.452502+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Friedreich ataxia for gene: FXN","entity_name":"FXN","entity_type":"gene"},{"created":"2020-08-27T21:00:36.218704+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Fucosidosis for gene: FUCA1","entity_name":"FUCA1","entity_type":"gene"},{"created":"2020-08-27T21:00:35.925444+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Neuroferritinopathy for gene: FTL","entity_name":"FTL","entity_type":"gene"},{"created":"2020-08-27T21:00:35.629215+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Fraser syndrome for gene: FRAS1","entity_name":"FRAS1","entity_type":"gene"},{"created":"2020-08-27T21:00:35.333245+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes IPEX syndrome for gene: FOXP3","entity_name":"FOXP3","entity_type":"gene"},{"created":"2020-08-27T21:00:35.058325+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins for gene: FOXF1","entity_name":"FOXF1","entity_type":"gene"},{"created":"2020-08-27T21:00:34.728048+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Lymphoedema, primary for gene: FOXC2","entity_name":"FOXC2","entity_type":"gene"},{"created":"2020-08-27T21:00:34.147743+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Axenfeld-Rieger syndrome for gene: FOXC1","entity_name":"FOXC1","entity_type":"gene"},{"created":"2020-08-27T21:00:33.841185+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Otopalatodigital spectrum disorder for gene: FLNA","entity_name":"FLNA","entity_type":"gene"},{"created":"2020-08-27T21:00:33.536759+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Birt-Hogg-Dube syndrome for gene: FLCN","entity_name":"FLCN","entity_type":"gene"},{"created":"2020-08-27T21:00:33.239133+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies for gene: FKTN","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-08-27T21:00:32.940412+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Muscular dystrophy, Fukuyama for gene: FKTN","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-08-27T21:00:32.639072+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Muscle-eye-brain disease for gene: FKRP","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-08-27T21:00:32.343807+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Muscular dystrophy, limb girdle 2I for gene: FKRP","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-08-27T21:00:32.056669+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Emery-Dreifuss muscular dystrophy for gene: FHL1","entity_name":"FHL1","entity_type":"gene"}]}