{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1577","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1575","results":[{"created":"2020-09-24T13:00:27.590963+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sftpc has been classified as Green List (High Evidence).","entity_name":"SFTPC","entity_type":"gene"},{"created":"2020-09-24T12:59:42.633992+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SGCD as ready","entity_name":"SGCD","entity_type":"gene"},{"created":"2020-09-24T12:59:42.622032+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sgcd has been classified as Green List (High Evidence).","entity_name":"SGCD","entity_type":"gene"},{"created":"2020-09-24T12:59:39.245025+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SGCD were changed from Cardiomyopathy, dilated; Muscular dystrophy, limb-girdle, type 2F to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287","entity_name":"SGCD","entity_type":"gene"},{"created":"2020-09-24T12:59:21.023274+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SGCD as Green List (high evidence)","entity_name":"SGCD","entity_type":"gene"},{"created":"2020-09-24T12:59:21.012998+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sgcd has been classified as Green List (High Evidence).","entity_name":"SGCD","entity_type":"gene"},{"created":"2020-09-24T12:58:22.751988+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC6A19 as ready","entity_name":"SLC6A19","entity_type":"gene"},{"created":"2020-09-24T12:58:22.741107+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a19 has been classified as Green List (High Evidence).","entity_name":"SLC6A19","entity_type":"gene"},{"created":"2020-09-24T12:58:19.321481+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC6A19 were changed from Hartnup disorder to Hartnup disorder, MIM # 234500","entity_name":"SLC6A19","entity_type":"gene"},{"created":"2020-09-24T12:58:05.861444+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC6A19 as Green List (high evidence)","entity_name":"SLC6A19","entity_type":"gene"},{"created":"2020-09-24T12:58:05.850479+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a19 has been classified as Green List (High Evidence).","entity_name":"SLC6A19","entity_type":"gene"},{"created":"2020-09-24T12:55:16.667584+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PYGM as ready","entity_name":"PYGM","entity_type":"gene"},{"created":"2020-09-24T12:55:16.658057+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pygm has been classified as Green List (High Evidence).","entity_name":"PYGM","entity_type":"gene"},{"created":"2020-09-24T12:55:12.177800+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PYGM as Green List (high evidence)","entity_name":"PYGM","entity_type":"gene"},{"created":"2020-09-24T12:55:12.168782+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pygm has been classified as Green List (High Evidence).","entity_name":"PYGM","entity_type":"gene"},{"created":"2020-09-24T12:54:39.666344+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:P2RY1 from the panel","entity_name":null,"entity_type":null},{"created":"2020-09-24T12:51:52.469927+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.20","user_name":"Lilian Downie","item_type":"entity","text":"gene: P2RY12 was added\ngene: P2RY12 was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: P2RY12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: P2RY12 were set to Bleeding disorder, platelet-type, 8 MIM# 609821\nAdded comment: Characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation. Onset childhood. Treatable with FFP for procedures. Not reviewed by Babyseq, in the NC NEXUS list. \r\nSources: Expert list \nSources: Expert list","entity_name":"P2RY12","entity_type":"gene"},{"created":"2020-09-24T12:49:23.406678+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.20","user_name":"Lilian Downie","item_type":"entity","text":"gene: P2RY1 was added\ngene: P2RY1 was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: P2RY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: P2RY1 were set to Bleeding disorder, platelet-type, 8, MIM# 609821\nReview for gene: P2RY1 was set to GREEN\nAdded comment: Characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation. Onset childhood. Treatable with FFP for procedures. Not reviewed by Babyseq, in the NC NEXUS list. \nSources: Expert list","entity_name":"P2RY1","entity_type":"gene"},{"created":"2020-09-24T12:46:27.918130+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.20","user_name":"Lilian Downie","item_type":"entity","text":"gene: PDX1 was added\ngene: PDX1 was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDX1 were set to Pancreatic agenesis, MIM# # 260370\nReview for gene: PDX1 was set to GREEN\nAdded comment: Neonatal onset IDDM, treatable. Not evaluated by Babyseq, included in NC NEXUS. \nSources: Expert list","entity_name":"PDX1","entity_type":"gene"},{"created":"2020-09-24T12:37:09.853257+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.20","user_name":"Lilian Downie","item_type":"entity","text":"gene: PIK3CD was added\ngene: PIK3CD was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIK3CD were set to Immunodeficiency 14, MIM # 615513\nReview for gene: PIK3CD was set to GREEN\nAdded comment: Primary immunodeficiency, characterized by onset of recurrent sinopulmonary and other infections in early childhood. Laboratory studies show defects in both B- and T-cell populations, with an inability to control infection with Epstein Barr-virus (EBV) and cytomegalovirus (CMV). Patient CD8+ T cells are skewed toward differentiation and senescence. Many patients develop lymphadenopathy, mucosal lymphoid aggregates, and/or increased serum IgM. There is also an increased susceptibility to B-cell lymphomas . \r\nNot reviewed by Babyseq, included in NCNEXUS list. Treatable \nSources: Expert list","entity_name":"PIK3CD","entity_type":"gene"},{"created":"2020-09-24T12:31:56.982628+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.20","user_name":"Lilian Downie","item_type":"entity","text":"gene: PTPRC was added\ngene: PTPRC was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: PTPRC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTPRC were set to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 151460\nReview for gene: PTPRC was set to GREEN\nAdded comment: Not reviewed by Babyseq, paediatric onset disease that is actionable with BMT (included in NCNEXUS list). \nSources: Expert list","entity_name":"PTPRC","entity_type":"gene"},{"created":"2020-09-24T11:48:53.802459+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.20","user_name":"Lilian Downie","item_type":"entity","text":"gene: PYGM was added\ngene: PYGM was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYGM were set to McCardle disease MIM# 608455\nReview for gene: PYGM was set to GREEN\nAdded comment: McCardle disease: glycogen storage disease type V (GSD5), characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence. Transient myoglobinuria may occur after exercise, due to rhabdomyolysis. Severe myoglobinuria may lead to acute renal failure. Patients may report muscle weakness, myalgia, and lack of endurance since childhood or adolescence. Later in adult life, there is persistent and progressive muscle weakness and atrophy with fatty replacement. McArdle disease is a relatively benign disorder, except for possible renal failure as a complication of myoglobinuria \r\nNot reviewed by Babyseq, included in NCNEXUS newborn screening list. \r\nActionable by controlled physical activity and programmed glucose intake. \nSources: Expert list","entity_name":"PYGM","entity_type":"gene"},{"created":"2020-09-24T10:56:06.836358+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.20","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: malignant hyperthermia, multiminicore disease MIM#180901; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RYR1","entity_type":"gene"},{"created":"2020-09-24T10:53:34.353427+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.20","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I MIM# 264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2020-09-24T10:51:17.885011+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.20","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema due to AAT deficiency, OMIM #107400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SERPINA1","entity_type":"gene"},{"created":"2020-09-24T10:47:16.925066+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.20","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SFTPC","entity_type":"gene"},{"created":"2020-09-24T10:44:44.467592+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.20","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SGCD","entity_type":"gene"},{"created":"2020-09-24T10:37:30.576476+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.20","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hartnup disorder MIM # 234500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC6A19","entity_type":"gene"},{"created":"2020-09-24T10:21:10.479218+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRAF as ready","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-09-24T10:21:10.469201+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: braf has been classified as Green List (High Evidence).","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-09-24T10:21:06.848431+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BRAF were changed from LEOPARD syndrome; Cardiofaciocutaneous syndrome to Noonan syndrome 7, MIM# 613706; Cardiofaciocutaneous syndrome, MIM# 115150","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-09-24T10:20:50.816688+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BRAF as Green List (high evidence)","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-09-24T10:20:50.807402+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: braf has been classified as Green List (High Evidence).","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-09-24T10:20:39.526204+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 7, MIM# 613706, Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-09-24T10:17:54.999870+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BMPR1A as ready","entity_name":"BMPR1A","entity_type":"gene"},{"created":"2020-09-24T10:17:54.990043+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmpr1a has been classified as Green List (High Evidence).","entity_name":"BMPR1A","entity_type":"gene"},{"created":"2020-09-24T10:17:51.430389+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BMPR1A were changed from Tetralogy of Fallot; Juvenile polyposis syndrome to Polyposis, juvenile intestinal, MIM# 174900","entity_name":"BMPR1A","entity_type":"gene"},{"created":"2020-09-24T10:17:34.876074+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BMPR1A as Green List (high evidence)","entity_name":"BMPR1A","entity_type":"gene"},{"created":"2020-09-24T10:17:34.865845+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmpr1a has been classified as Green List (High Evidence).","entity_name":"BMPR1A","entity_type":"gene"},{"created":"2020-09-24T10:17:09.996207+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyposis, juvenile intestinal, MIM# 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BMPR1A","entity_type":"gene"},{"created":"2020-09-24T10:13:44.397654+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCHE as ready","entity_name":"BCHE","entity_type":"gene"},{"created":"2020-09-24T10:13:44.389068+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bche has been classified as Green List (High Evidence).","entity_name":"BCHE","entity_type":"gene"},{"created":"2020-09-24T10:13:13.684703+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BCHE as Green List (high evidence)","entity_name":"BCHE","entity_type":"gene"},{"created":"2020-09-24T10:13:13.674749+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bche has been classified as Green List (High Evidence).","entity_name":"BCHE","entity_type":"gene"},{"created":"2020-09-24T10:13:02.075229+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCHE was added\ngene: BCHE was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: BCHE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCHE were set to Butyrylcholinesterase deficiency, MIM#\t617936\nReview for gene: BCHE was set to GREEN\nAdded comment: Individuals deficient in butyrylcholinesterase (BCHE) appear asymptomatic, apart from a heightened sensitivity to muscle relaxants such as suxamethonium (succinylcholine) and mivacurium, 2 BCHE carboxylester substrates. In individuals with usual BCHE levels, these drugs are rapidly hydrolyzed in plasma and their duration of action is short (less than 10 minutes). BCHE deficiency results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. Prolonged neuromuscular block occurs with BCHE deficiencies of marked severity (impairment over 70%). \nSources: Expert list","entity_name":"BCHE","entity_type":"gene"},{"created":"2020-09-24T10:10:53.451108+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP7A as ready","entity_name":"ATP7A","entity_type":"gene"},{"created":"2020-09-24T10:10:53.440352+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp7a has been classified as Green List (High Evidence).","entity_name":"ATP7A","entity_type":"gene"},{"created":"2020-09-24T10:10:50.302427+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP7A were changed from Occipital horn syndrome; Spinal muscular atrophy, distal, X-linked 3; Menkes syndrome to Menkes disease, MIM# 309400","entity_name":"ATP7A","entity_type":"gene"},{"created":"2020-09-24T10:10:34.689512+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP7A as Green List (high evidence)","entity_name":"ATP7A","entity_type":"gene"},{"created":"2020-09-24T10:10:34.679600+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp7a has been classified as Green List (High Evidence).","entity_name":"ATP7A","entity_type":"gene"},{"created":"2020-09-24T10:10:23.705160+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease, MIM# 309400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ATP7A","entity_type":"gene"},{"created":"2020-09-24T10:07:53.720254+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AR: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AR","entity_type":"gene"},{"created":"2020-09-24T10:07:44.567582+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AR as ready","entity_name":"AR","entity_type":"gene"},{"created":"2020-09-24T10:07:44.557430+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ar has been classified as Green List (High Evidence).","entity_name":"AR","entity_type":"gene"},{"created":"2020-09-24T10:07:41.269213+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AR were changed from Spinal and bulbar muscular atrophy of Kennedy; Androgen insensitivity to Androgen insensitivity, MIM# 300068","entity_name":"AR","entity_type":"gene"},{"created":"2020-09-24T10:07:24.018278+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AR as Green List (high evidence)","entity_name":"AR","entity_type":"gene"},{"created":"2020-09-24T10:07:24.007551+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ar has been classified as Green List (High Evidence).","entity_name":"AR","entity_type":"gene"},{"created":"2020-09-24T10:07:11.702862+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Androgen insensitivity, MIM# 300068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AR","entity_type":"gene"},{"created":"2020-09-24T10:02:03.878897+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: APRT as ready","entity_name":"APRT","entity_type":"gene"},{"created":"2020-09-24T10:02:03.870465+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aprt has been classified as Green List (High Evidence).","entity_name":"APRT","entity_type":"gene"},{"created":"2020-09-24T10:02:00.267909+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: APRT were changed from Adenine phosphoribosyltransferase deficiency to Adenine phosphoribosyltransferase deficiency, MIM#\t614723","entity_name":"APRT","entity_type":"gene"},{"created":"2020-09-24T10:01:34.489025+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: APRT as Green List (high evidence)","entity_name":"APRT","entity_type":"gene"},{"created":"2020-09-24T10:01:34.480694+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aprt has been classified as Green List (High Evidence).","entity_name":"APRT","entity_type":"gene"},{"created":"2020-09-24T10:01:17.653529+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: APRT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenine phosphoribosyltransferase deficiency, MIM# 614723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"APRT","entity_type":"gene"},{"created":"2020-09-24T09:57:50.824583+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH7A1 as ready","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2020-09-24T09:57:50.815705+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh7a1 has been classified as Green List (High Evidence).","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2020-09-24T09:57:47.466637+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALDH7A1 as Green List (high evidence)","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2020-09-24T09:57:47.458295+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh7a1 has been classified as Green List (High Evidence).","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2020-09-24T09:57:37.966218+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDH7A1 was added\ngene: ALDH7A1 was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, MIM#\t266100\nReview for gene: ALDH7A1 was set to GREEN\nAdded comment: Highly penetrant childhood-onset disorder, well established gene-disease association. Treatable. \nSources: Expert list","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2020-09-24T09:55:55.160697+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACADS as ready","entity_name":"ACADS","entity_type":"gene"},{"created":"2020-09-24T09:55:55.149918+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acads has been classified as Green List (High Evidence).","entity_name":"ACADS","entity_type":"gene"},{"created":"2020-09-24T09:55:50.667416+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACADS as Green List (high evidence)","entity_name":"ACADS","entity_type":"gene"},{"created":"2020-09-24T09:55:50.659208+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acads has been classified as Green List (High Evidence).","entity_name":"ACADS","entity_type":"gene"},{"created":"2020-09-24T09:55:35.110248+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACADS","entity_type":"gene"},{"created":"2020-09-24T09:51:39.071425+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCC2 as ready","entity_name":"ABCC2","entity_type":"gene"},{"created":"2020-09-24T09:51:39.063814+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcc2 has been classified as Green List (High Evidence).","entity_name":"ABCC2","entity_type":"gene"},{"created":"2020-09-24T09:51:35.891633+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCC2 were changed from Dubin-Johnson syndrome to Dubin-Johnson syndrome, MIM# 237500","entity_name":"ABCC2","entity_type":"gene"},{"created":"2020-09-24T09:51:24.107794+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCC2 were set to ","entity_name":"ABCC2","entity_type":"gene"},{"created":"2020-09-24T09:51:13.717174+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABCC2 as Green List (high evidence)","entity_name":"ABCC2","entity_type":"gene"},{"created":"2020-09-24T09:51:13.706361+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcc2 has been classified as Green List (High Evidence).","entity_name":"ABCC2","entity_type":"gene"},{"created":"2020-09-24T09:51:01.643712+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30344695, 11477083; Phenotypes: Dubin-Johnson syndrome, MIM# 237500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCC2","entity_type":"gene"},{"created":"2020-09-24T07:59:37.514506+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4560","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UPF3B as ready","entity_name":"UPF3B","entity_type":"gene"},{"created":"2020-09-24T07:59:37.504187+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4560","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: upf3b has been classified as Green List (High Evidence).","entity_name":"UPF3B","entity_type":"gene"},{"created":"2020-09-24T07:59:30.856574+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4560","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UPF3B were changed from  to Mental retardation, X-linked, syndromic 14, MIM# 300676","entity_name":"UPF3B","entity_type":"gene"},{"created":"2020-09-24T07:59:12.386086+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4559","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UPF3B were set to ","entity_name":"UPF3B","entity_type":"gene"},{"created":"2020-09-24T07:58:53.431179+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4558","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UPF3B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"UPF3B","entity_type":"gene"},{"created":"2020-09-24T07:58:36.573378+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4557","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UPF3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19377476, 17704778, 31737052, 28948974, 32667670; Phenotypes: Mental retardation, X-linked, syndromic 14, MIM# 300676; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"UPF3B","entity_type":"gene"},{"created":"2020-09-24T07:57:16.116938+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3025","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UPF3B as ready","entity_name":"UPF3B","entity_type":"gene"},{"created":"2020-09-24T07:57:16.095356+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3025","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: upf3b has been classified as Green List (High Evidence).","entity_name":"UPF3B","entity_type":"gene"},{"created":"2020-09-24T07:57:11.872742+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3025","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UPF3B were changed from  to Mental retardation, X-linked, syndromic 14, MIM# 300676","entity_name":"UPF3B","entity_type":"gene"},{"created":"2020-09-24T07:56:46.585561+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3024","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UPF3B were set to ","entity_name":"UPF3B","entity_type":"gene"},{"created":"2020-09-24T07:56:14.062968+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3023","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UPF3B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"UPF3B","entity_type":"gene"},{"created":"2020-09-24T07:55:42.219877+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3022","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UPF3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19377476, 17704778, 31737052, 28948974; Phenotypes: Mental retardation, X-linked, syndromic 14, MIM# 300676; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"UPF3B","entity_type":"gene"},{"created":"2020-09-24T07:51:27.600923+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPHP1 as ready","entity_name":"NPHP1","entity_type":"gene"},{"created":"2020-09-24T07:51:27.589927+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nphp1 has been classified as Green List (High Evidence).","entity_name":"NPHP1","entity_type":"gene"},{"created":"2020-09-24T07:51:25.502487+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPHP1 were changed from  to Nephronophthisis 1, juvenile, MIM# 256100","entity_name":"NPHP1","entity_type":"gene"},{"created":"2020-09-24T07:51:01.172107+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPHP1 were set to ","entity_name":"NPHP1","entity_type":"gene"},{"created":"2020-09-24T07:50:32.692434+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP1","entity_type":"gene"},{"created":"2020-09-24T07:50:05.808580+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: NPHP1.","entity_name":"NPHP1","entity_type":"gene"},{"created":"2020-09-24T07:49:50.285583+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23559409; Phenotypes: Nephronophthisis 1, juvenile, MIM# 256100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP1","entity_type":"gene"}]}