{"count":221292,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1649","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1647","results":[{"created":"2020-08-27T20:59:00.351805+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Peroxisomal acyl-CoA oxidase deficiency for gene: ACOX1","entity_name":"ACOX1","entity_type":"gene"},{"created":"2020-08-27T20:59:00.092235+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Renal tubular dysgenesis for gene: ACE","entity_name":"ACE","entity_type":"gene"},{"created":"2020-08-27T20:58:59.751994+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-methylacetoacetic aciduria for gene: ACAT1","entity_name":"ACAT1","entity_type":"gene"},{"created":"2020-08-27T20:58:59.453340+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes VLCAD deficiency for gene: ACADVL","entity_name":"ACADVL","entity_type":"gene"},{"created":"2020-08-27T20:58:59.218866+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Medium chain acyl CoA dehydrogenase deficiency for gene: ACADM","entity_name":"ACADM","entity_type":"gene"},{"created":"2020-08-27T20:58:58.923524+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes ACAD9 deficiency for gene: ACAD9","entity_name":"ACAD9","entity_type":"gene"},{"created":"2020-08-27T20:58:58.347368+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Isobutyryl-CoA dehydrogenase deficiency for gene: ACAD8","entity_name":"ACAD8","entity_type":"gene"},{"created":"2020-08-27T20:58:58.053873+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Sitosterolemia for gene: ABCG5","entity_name":"ABCG5","entity_type":"gene"},{"created":"2020-08-27T20:58:57.756519+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Adrenoleukodystrophy for gene: ABCD1","entity_name":"ABCD1","entity_type":"gene"},{"created":"2020-08-27T20:58:57.447068+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Hypertrichotic osteochondrodysplasia for gene: ABCC9","entity_name":"ABCC9","entity_type":"gene"},{"created":"2020-08-27T20:58:57.147081+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: ABCC8","entity_name":"ABCC8","entity_type":"gene"},{"created":"2020-08-27T20:58:56.850431+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Pseudoxanthoma elasticum for gene: ABCC6","entity_name":"ABCC6","entity_type":"gene"},{"created":"2020-08-27T20:58:56.619140+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Cholestasis, progressive familial intrahepatic 3 for gene: ABCB4","entity_name":"ABCB4","entity_type":"gene"},{"created":"2020-08-27T20:58:56.322353+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Cholestasis, progressive familial intrahepatic 2 for gene: ABCB11","entity_name":"ABCB11","entity_type":"gene"},{"created":"2020-08-27T20:58:55.955377+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Stargardt disease for gene: ABCA4","entity_name":"ABCA4","entity_type":"gene"},{"created":"2020-08-27T20:58:55.444134+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Surfactant metabolism dysfunction, pulmonary, 3 for gene: ABCA3","entity_name":"ABCA3","entity_type":"gene"},{"created":"2020-08-27T20:58:55.146345+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Ichthyosis, congenital, autosomal recessive for gene: ABCA12","entity_name":"ABCA12","entity_type":"gene"},{"created":"2020-08-27T20:58:54.847004+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: AARS","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-27T20:58:54.547130+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Achalasia-addisonianism-alacrimia syndrome for gene: AAAS","entity_name":"AAAS","entity_type":"gene"},{"created":"2020-08-27T20:41:27.837017+10:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAT4 as ready","entity_name":"FAT4","entity_type":"gene"},{"created":"2020-08-27T20:41:27.826029+10:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fat4 has been classified as Amber List (Moderate Evidence).","entity_name":"FAT4","entity_type":"gene"},{"created":"2020-08-27T20:41:24.484008+10:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FAT4 were changed from  to Van Maldergem syndrome 2, MIM# 615546","entity_name":"FAT4","entity_type":"gene"},{"created":"2020-08-27T20:41:03.406105+10:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FAT4 were set to ","entity_name":"FAT4","entity_type":"gene"},{"created":"2020-08-27T20:40:36.987403+10:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FAT4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FAT4","entity_type":"gene"},{"created":"2020-08-27T20:40:10.730636+10:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAT4 as Amber List (moderate evidence)","entity_name":"FAT4","entity_type":"gene"},{"created":"2020-08-27T20:40:10.720893+10:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fat4 has been classified as Amber List (Moderate Evidence).","entity_name":"FAT4","entity_type":"gene"},{"created":"2020-08-27T20:39:39.753901+10:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FAT4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22473091, 24056717; Phenotypes: Van Maldergem syndrome 2, MIM# 615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FAT4","entity_type":"gene"},{"created":"2020-08-27T20:03:07.746538+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDZD7 was added\ngene: PDZD7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PDZD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDZD7 were set to Usher syndrome","entity_name":"PDZD7","entity_type":"gene"},{"created":"2020-08-27T20:03:07.539447+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADGRG1 was added\ngene: ADGRG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2020-08-27T20:03:07.337102+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GPR143 was added\ngene: GPR143 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GPR143 were set to Ocular albinism, type I","entity_name":"GPR143","entity_type":"gene"},{"created":"2020-08-27T20:03:07.130957+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GPC3 was added\ngene: GPC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome","entity_name":"GPC3","entity_type":"gene"},{"created":"2020-08-27T20:03:06.923443+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNS was added\ngene: GNS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNS were set to Mucopolysaccharidosis IIId","entity_name":"GNS","entity_type":"gene"},{"created":"2020-08-27T20:03:06.656065+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNPTG was added\ngene: GNPTG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPTG were set to Mucolipidosis III gamma","entity_name":"GNPTG","entity_type":"gene"},{"created":"2020-08-27T20:03:06.456027+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNPTAB was added\ngene: GNPTAB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPTAB were set to Mucolipidosis II","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2020-08-27T20:03:06.247046+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNE was added\ngene: GNE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNE were set to Inclusion body myopathy","entity_name":"GNE","entity_type":"gene"},{"created":"2020-08-27T20:03:05.747726+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Pseudopseudohypoparathyroidism for gene: GNAS","entity_name":"GNAS","entity_type":"gene"},{"created":"2020-08-27T20:03:05.543890+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNAS was added\ngene: GNAS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GNAS was set to Unknown\nPhenotypes for gene: GNAS were set to Pseudohypoparathyroidism","entity_name":"GNAS","entity_type":"gene"},{"created":"2020-08-27T20:03:05.336271+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLUD1 was added\ngene: GLUD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GLUD1 were set to Hyperinsulinism","entity_name":"GLUD1","entity_type":"gene"},{"created":"2020-08-27T20:03:05.134116+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLRA1 was added\ngene: GLRA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GLRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, autosomal dominant or recessive","entity_name":"GLRA1","entity_type":"gene"},{"created":"2020-08-27T20:03:04.926668+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLI3 was added\ngene: GLI3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-08-27T20:03:04.720490+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLDC was added\ngene: GLDC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLDC were set to Glycine encephalopathy","entity_name":"GLDC","entity_type":"gene"},{"created":"2020-08-27T20:03:04.456777+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLB1 was added\ngene: GLB1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLB1 were set to Gangliosidosis GM1","entity_name":"GLB1","entity_type":"gene"},{"created":"2020-08-27T20:03:04.249691+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLA was added\ngene: GLA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GLA were set to Fabry disease","entity_name":"GLA","entity_type":"gene"},{"created":"2020-08-27T20:03:04.053744+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GJC2 was added\ngene: GJC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GJC2 were set to Pelizaeus-Merzbacher-like disease","entity_name":"GJC2","entity_type":"gene"},{"created":"2020-08-27T20:03:03.750336+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 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":"2020-08-27T20:03:03.548417+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GJB2 was added\ngene: GJB2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GJB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GJB2 were set to Deafness","entity_name":"GJB2","entity_type":"gene"},{"created":"2020-08-27T20:03:03.343902+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GJB1 was added\ngene: GJB1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy","entity_name":"GJB1","entity_type":"gene"},{"created":"2020-08-27T20:03:03.135744+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GJA1 was added\ngene: GJA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GJA1 were set to Oculodentodigital dysplasia","entity_name":"GJA1","entity_type":"gene"},{"created":"2020-08-27T20:03:02.933861+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GIPC3 was added\ngene: GIPC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GIPC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GIPC3 were set to Hearing loss","entity_name":"GIPC3","entity_type":"gene"},{"created":"2020-08-27T20:03:02.726796+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GFPT1 was added\ngene: GFPT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GFPT1 were set to Congenital myasthenic syndrome, limb-girdle","entity_name":"GFPT1","entity_type":"gene"},{"created":"2020-08-27T20:03:02.521949+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GFM1 was added\ngene: GFM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1","entity_name":"GFM1","entity_type":"gene"},{"created":"2020-08-27T20:03:02.053796+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GFAP was added\ngene: GFAP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GFAP were set to Alexander disease","entity_name":"GFAP","entity_type":"gene"},{"created":"2020-08-27T20:03:01.838760+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GDAP1 was added\ngene: GDAP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease","entity_name":"GDAP1","entity_type":"gene"},{"created":"2020-08-27T20:03:01.634677+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GCK was added\ngene: GCK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GCK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GCK were set to Hyperinsulinemic hypoglycemia, familial","entity_name":"GCK","entity_type":"gene"},{"created":"2020-08-27T20:03:01.432937+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GCDH was added\ngene: GCDH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCDH were set to Glutaricaciduria, type I","entity_name":"GCDH","entity_type":"gene"},{"created":"2020-08-27T20:03:01.230451+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GBE1 was added\ngene: GBE1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBE1 were set to Glycogen storage disease IV","entity_name":"GBE1","entity_type":"gene"},{"created":"2020-08-27T20:03:01.028187+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GBA was added\ngene: GBA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBA were set to Gaucher disease 1","entity_name":"GBA","entity_type":"gene"},{"created":"2020-08-27T20:03:00.823078+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GATA4 was added\ngene: GATA4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GATA4 were set to Congenital heart defects","entity_name":"GATA4","entity_type":"gene"},{"created":"2020-08-27T20:03:00.620448+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GATA1 was added\ngene: GATA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GATA1 were set to Dyserythropoietic anemia with thrombocytopenia","entity_name":"GATA1","entity_type":"gene"},{"created":"2020-08-27T20:03:00.355316+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GAN was added\ngene: GAN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAN were set to Giant axonal neuropathy","entity_name":"GAN","entity_type":"gene"},{"created":"2020-08-27T20:03:00.150362+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GALT was added\ngene: GALT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALT were set to Galactosaemia","entity_name":"GALT","entity_type":"gene"},{"created":"2020-08-27T20:02:59.940794+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GALNS was added\ngene: GALNS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA","entity_name":"GALNS","entity_type":"gene"},{"created":"2020-08-27T20:02:59.536818+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GALK1 was added\ngene: GALK1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts","entity_name":"GALK1","entity_type":"gene"},{"created":"2020-08-27T20:02:59.335540+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GALC was added\ngene: GALC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALC were set to Krabbe disease","entity_name":"GALC","entity_type":"gene"},{"created":"2020-08-27T20:02:59.134574+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GAA was added\ngene: GAA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAA were set to Glycogen storage disease II","entity_name":"GAA","entity_type":"gene"},{"created":"2020-08-27T20:02:58.932391+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: G6PD was added\ngene: G6PD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: G6PD were set to Glucose-6-phosphate dehydrogenase deficiency","entity_name":"G6PD","entity_type":"gene"},{"created":"2020-08-27T20:02:58.730895+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: G6PC3 was added\ngene: G6PC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: G6PC3 were set to Neutropaenia, congenital","entity_name":"G6PC3","entity_type":"gene"},{"created":"2020-08-27T20:02:58.529867+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: G6PC was added\ngene: G6PC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: G6PC were set to Glycogen storage disease Ia","entity_name":"G6PC","entity_type":"gene"},{"created":"2020-08-27T20:02:58.329328+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FXN was added\ngene: FXN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FXN were set to Friedreich ataxia","entity_name":"FXN","entity_type":"gene"},{"created":"2020-08-27T20:02:58.127338+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FUCA1 was added\ngene: FUCA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FUCA1 were set to Fucosidosis","entity_name":"FUCA1","entity_type":"gene"},{"created":"2020-08-27T20:02:57.923409+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FTL was added\ngene: FTL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FTL were set to Neuroferritinopathy","entity_name":"FTL","entity_type":"gene"},{"created":"2020-08-27T20:02:57.725323+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FRAS1 was added\ngene: FRAS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FRAS1 were set to Fraser syndrome","entity_name":"FRAS1","entity_type":"gene"},{"created":"2020-08-27T20:02:57.448090+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXP3 was added\ngene: FOXP3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FOXP3 were set to IPEX syndrome","entity_name":"FOXP3","entity_type":"gene"},{"created":"2020-08-27T20:02:57.120281+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXF1 was added\ngene: FOXF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins","entity_name":"FOXF1","entity_type":"gene"},{"created":"2020-08-27T20:02:56.920626+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXC2 was added\ngene: FOXC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FOXC2 were set to Lymphoedema, primary","entity_name":"FOXC2","entity_type":"gene"},{"created":"2020-08-27T20:02:56.720398+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXC1 was added\ngene: FOXC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FOXC1 were set to Axenfeld-Rieger syndrome","entity_name":"FOXC1","entity_type":"gene"},{"created":"2020-08-27T20:02:56.518752+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FLNA was added\ngene: FLNA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FLNA were set to Otopalatodigital spectrum disorder","entity_name":"FLNA","entity_type":"gene"},{"created":"2020-08-27T20:02:56.257552+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FLCN was added\ngene: FLCN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome","entity_name":"FLCN","entity_type":"gene"},{"created":"2020-08-27T20:02:56.035899+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","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":"2020-08-27T20:02:55.839025+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FKTN was added\ngene: FKTN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKTN were set to Muscular dystrophy, Fukuyama","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-08-27T20:02:55.544802+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Muscle-eye-brain disease for gene: FKRP","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-08-27T20:02:55.344740+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FKRP was added\ngene: FKRP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKRP were set to Muscular dystrophy, limb girdle 2I","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-08-27T20:02:55.141516+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FHL1 was added\ngene: FHL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy","entity_name":"FHL1","entity_type":"gene"},{"created":"2020-08-27T20:02:54.945806+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FH was added\ngene: FH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FH were set to Fumarase deficiency","entity_name":"FH","entity_type":"gene"},{"created":"2020-08-27T20:02:54.744510+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FGG was added\ngene: FGG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGG were set to Afibrinogenaemia","entity_name":"FGG","entity_type":"gene"},{"created":"2020-08-27T20:02:54.520656+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Muenke syndrome for gene: FGFR3","entity_name":"FGFR3","entity_type":"gene"},{"created":"2020-08-27T20:02:54.046876+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Thanatophoric dysplasia type 1 for gene: FGFR3","entity_name":"FGFR3","entity_type":"gene"},{"created":"2020-08-27T20:02:53.744331+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Crouzon syndrome with acanthosis nigricans for gene: FGFR3","entity_name":"FGFR3","entity_type":"gene"},{"created":"2020-08-27T20:02:53.520521+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Hypochondroplasia for gene: FGFR3","entity_name":"FGFR3","entity_type":"gene"},{"created":"2020-08-27T20:02:53.256021+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FGFR3 was added\ngene: FGFR3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FGFR3 were set to Achondroplasia","entity_name":"FGFR3","entity_type":"gene"},{"created":"2020-08-27T20:02:53.038268+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Jackson-Weiss syndrome for gene: FGFR2","entity_name":"FGFR2","entity_type":"gene"},{"created":"2020-08-27T20:02:52.747731+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Beare-Stevenson cutis gyrata syndrome for gene: FGFR2","entity_name":"FGFR2","entity_type":"gene"},{"created":"2020-08-27T20:02:52.528529+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Crouzon syndrome for gene: FGFR2","entity_name":"FGFR2","entity_type":"gene"},{"created":"2020-08-27T20:02:52.240403+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Apert syndrome for gene: FGFR2","entity_name":"FGFR2","entity_type":"gene"},{"created":"2020-08-27T20:02:52.044148+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FGFR2 was added\ngene: FGFR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FGFR2 were set to Pfeiffer syndrome","entity_name":"FGFR2","entity_type":"gene"},{"created":"2020-08-27T20:02:51.843650+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FGFR1 was added\ngene: FGFR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FGFR1 were set to Kallmann syndrome","entity_name":"FGFR1","entity_type":"gene"},{"created":"2020-08-27T20:02:51.644796+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FGF3 was added\ngene: FGF3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGF3 were set to Deafness, congenital with inner ear agenesis, microtia, and microdontia","entity_name":"FGF3","entity_type":"gene"},{"created":"2020-08-27T20:02:51.444814+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FGD4 was added\ngene: FGD4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease","entity_name":"FGD4","entity_type":"gene"},{"created":"2020-08-27T20:02:51.046871+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FGD1 was added\ngene: FGD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FGD1 were set to Aarskog-Scott syndrome","entity_name":"FGD1","entity_type":"gene"},{"created":"2020-08-27T20:02:50.845881+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FGB was added\ngene: FGB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGB were set to Afibrinogenaemia","entity_name":"FGB","entity_type":"gene"}]}