{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=734","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=732","results":[{"created":"2022-10-05T18:40:05.641559+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininosuccinic aciduria MIM#207900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ASL","entity_type":"gene"},{"created":"2022-10-05T18:37:38.790261+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARSB as ready","entity_name":"ARSB","entity_type":"gene"},{"created":"2022-10-05T18:37:38.780233+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arsb has been classified as Green List (High Evidence).","entity_name":"ARSB","entity_type":"gene"},{"created":"2022-10-05T18:37:35.223240+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy)\t 253200; Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 to Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200; MONDO:0009661","entity_name":"ARSB","entity_type":"gene"},{"created":"2022-10-05T18:37:15.137437+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARSB were set to ","entity_name":"ARSB","entity_type":"gene"},{"created":"2022-10-05T18:36:48.656578+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ARSB.\nTag clinical trial tag was added to gene: ARSB.","entity_name":"ARSB","entity_type":"gene"},{"created":"2022-10-05T18:36:00.175047+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4957","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ARSB.\nTag clinical trial tag was added to gene: ARSB.","entity_name":"ARSB","entity_type":"gene"},{"created":"2022-10-05T18:35:31.035733+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ARSB.\nTag clinical trial tag was added to gene: ARSB.","entity_name":"ARSB","entity_type":"gene"},{"created":"2022-10-05T18:35:11.880623+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ARSB.\nTag clinical trial tag was added to gene: ARSB.","entity_name":"ARSB","entity_type":"gene"},{"created":"2022-10-05T18:34:50.967724+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ARSB.","entity_name":"ARSB","entity_type":"gene"},{"created":"2022-10-05T18:34:28.452930+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARSB as ready","entity_name":"ARSB","entity_type":"gene"},{"created":"2022-10-05T18:34:28.443010+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arsb has been classified as Green List (High Evidence).","entity_name":"ARSB","entity_type":"gene"},{"created":"2022-10-05T18:32:21.577350+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) to Mucopolysaccharidosis VI (MPS6, MIM# 253200","entity_name":"ARSB","entity_type":"gene"},{"created":"2022-10-05T18:32:11.107895+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.280","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARSB were set to ","entity_name":"ARSB","entity_type":"gene"},{"created":"2022-10-05T18:31:59.554314+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ARSB.\nTag clinical trial tag was added to gene: ARSB.","entity_name":"ARSB","entity_type":"gene"},{"created":"2022-10-05T18:31:27.092978+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31142378; Phenotypes: Mucopolysaccharidosis VI (MPS6, MIM# 253200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARSB","entity_type":"gene"},{"created":"2022-10-05T18:30:50.337614+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4957","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARG1 as ready","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:30:50.327992+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4957","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arg1 has been classified as Green List (High Evidence).","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:30:09.014451+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ARG1.","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:29:46.302126+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ARG1.","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:29:31.331993+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4957","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARG1 were changed from  to Argininaemia MIM#207800","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:29:23.017059+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ARG1.","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:29:09.609297+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.507","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARG1 as ready","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:29:09.598749+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.507","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arg1 has been classified as Green List (High Evidence).","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:29:00.654896+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4956","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:28:32.528342+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.507","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARG1 were changed from  to Argininaemia MIM#207800","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:28:08.630635+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4955","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia MIM#207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:27:40.691754+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4955","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ARG1.","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:27:33.774116+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.506","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:27:04.883250+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ARG1.","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:26:53.334164+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia MIM#207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:25:57.029950+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1675","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ARG1.","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:25:40.072479+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ARG1.","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:25:22.985278+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARG1 as ready","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:25:22.975690+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arg1 has been classified as Green List (High Evidence).","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:25:16.167531+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ARG1.","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:25:07.432645+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia MIM#207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-10-05T18:24:04.953654+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AHCY.","entity_name":"AHCY","entity_type":"gene"},{"created":"2022-10-05T18:23:34.270012+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4955","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AHCY.","entity_name":"AHCY","entity_type":"gene"},{"created":"2022-10-05T18:20:12.014670+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AHCY.","entity_name":"AHCY","entity_type":"gene"},{"created":"2022-10-05T18:19:57.786810+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AHCY as ready","entity_name":"AHCY","entity_type":"gene"},{"created":"2022-10-05T18:19:57.774206+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ahcy has been classified as Green List (High Evidence).","entity_name":"AHCY","entity_type":"gene"},{"created":"2022-10-05T18:19:50.968578+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AHCY was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AHCY","entity_type":"gene"},{"created":"2022-10-05T18:19:39.106396+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AHCY.","entity_name":"AHCY","entity_type":"gene"},{"created":"2022-10-05T18:19:29.676630+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AHCY","entity_type":"gene"},{"created":"2022-10-05T18:18:34.993241+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGL as ready","entity_name":"AGL","entity_type":"gene"},{"created":"2022-10-05T18:18:34.984804+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agl has been classified as Green List (High Evidence).","entity_name":"AGL","entity_type":"gene"},{"created":"2022-10-05T18:18:27.460967+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AGL were set to ","entity_name":"AGL","entity_type":"gene"},{"created":"2022-10-05T18:18:06.844617+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AGL: Changed publications: 20631546, 27106217","entity_name":"AGL","entity_type":"gene"},{"created":"2022-10-05T18:17:48.244343+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20631546; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM# 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AGL","entity_type":"gene"},{"created":"2022-10-05T18:16:11.129154+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HOXD13 as ready","entity_name":"HOXD13","entity_type":"gene"},{"created":"2022-10-05T18:16:11.118597+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hoxd13 has been classified as Green List (High Evidence).","entity_name":"HOXD13","entity_type":"gene"},{"created":"2022-10-05T18:16:08.443290+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HOXD13 were changed from brachydactyly to Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200; Syndactyly, type V, MIM# 186300; Synpolydactyly 1, MIM# 186000; Brachydactyly-syndactyly syndrome, MIM# 610713","entity_name":"HOXD13","entity_type":"gene"},{"created":"2022-10-05T18:16:00.929196+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HOXD13 were set to 12649808; 17236141","entity_name":"HOXD13","entity_type":"gene"},{"created":"2022-10-05T18:15:49.896722+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HOXD13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"HOXD13","entity_type":"gene"},{"created":"2022-10-05T18:15:42.558605+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HOXD13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HOXD13","entity_type":"gene"},{"created":"2022-10-05T18:15:30.211221+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HOXD13 as Green List (high evidence)","entity_name":"HOXD13","entity_type":"gene"},{"created":"2022-10-05T18:15:30.202575+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hoxd13 has been classified as Green List (High Evidence).","entity_name":"HOXD13","entity_type":"gene"},{"created":"2022-10-05T18:15:21.907670+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HOXD13: Rating: GREEN; Mode of pathogenicity: None; Publications: 34777468, 32509852; Phenotypes: Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200, Syndactyly, type V, MIM# 186300, Synpolydactyly 1, MIM# 186000, Brachydactyly-syndactyly syndrome, MIM# 610713; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"HOXD13","entity_type":"gene"},{"created":"2022-10-05T18:13:44.887901+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GDF5 as ready","entity_name":"GDF5","entity_type":"gene"},{"created":"2022-10-05T18:13:44.869923+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf5 has been classified as Green List (High Evidence).","entity_name":"GDF5","entity_type":"gene"},{"created":"2022-10-05T18:13:42.432275+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GDF5 were changed from brachydactyly to Brachydactyly, type A1, C, MIM# 615072; Brachydactyly, type A2 MIM#112600; Brachydactyly, type C, MIM# 113100; Symphalangism, proximal, 1B, MIM# 615298","entity_name":"GDF5","entity_type":"gene"},{"created":"2022-10-05T18:13:31.507871+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GDF5 as Green List (high evidence)","entity_name":"GDF5","entity_type":"gene"},{"created":"2022-10-05T18:13:31.492003+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf5 has been classified as Green List (High Evidence).","entity_name":"GDF5","entity_type":"gene"},{"created":"2022-10-05T18:13:22.287143+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type A1, C, MIM# 615072, Brachydactyly, type A2 MIM#112600, Brachydactyly, type C, MIM# 113100, Symphalangism, proximal, 1B, MIM# 615298; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GDF5","entity_type":"gene"},{"created":"2022-10-05T17:56:38.054215+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMN1 as ready","entity_name":"SMN1","entity_type":"gene"},{"created":"2022-10-05T17:56:38.045886+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smn1 has been classified as Green List (High Evidence).","entity_name":"SMN1","entity_type":"gene"},{"created":"2022-10-05T17:56:33.954341+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy type 1, 253300; Spinal muscular atrophy type 2, 253550; Spinal muscular atrophy type 3, 253400 to Spinal muscular atrophy type 1, MIM#253300","entity_name":"SMN1","entity_type":"gene"},{"created":"2022-10-05T17:55:46.745388+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: SMN1.\nTag clinical trial tag was added to gene: SMN1.","entity_name":"SMN1","entity_type":"gene"},{"created":"2022-10-05T17:55:23.516523+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: SMN1.\nTag treatable tag was added to gene: SMN1.\nTag clinical trial tag was added to gene: SMN1.","entity_name":"SMN1","entity_type":"gene"},{"created":"2022-10-05T17:55:07.693402+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy-1, MIM# 253300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SMN1","entity_type":"gene"},{"created":"2022-10-05T17:52:47.954676+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ACADVL.","entity_name":"ACADVL","entity_type":"gene"},{"created":"2022-10-05T17:52:30.915609+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ACADVL.","entity_name":"ACADVL","entity_type":"gene"},{"created":"2022-10-05T17:52:05.922780+11:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ACADVL.","entity_name":"ACADVL","entity_type":"gene"},{"created":"2022-10-05T17:51:33.220133+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.836","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ACADVL.","entity_name":"ACADVL","entity_type":"gene"},{"created":"2022-10-05T17:51:05.501585+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ACADVL.","entity_name":"ACADVL","entity_type":"gene"},{"created":"2022-10-05T17:50:46.843778+11:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ACADVL.","entity_name":"ACADVL","entity_type":"gene"},{"created":"2022-10-05T17:50:31.422179+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ACADVL.","entity_name":"ACADVL","entity_type":"gene"},{"created":"2022-10-05T17:50:20.859426+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: 31372341, 32885845; Phenotypes: VLCAD deficiency, MIM# 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACADVL","entity_type":"gene"},{"created":"2022-10-05T17:47:58.509446+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALE as ready","entity_name":"GALE","entity_type":"gene"},{"created":"2022-10-05T17:47:58.499987+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gale has been classified as Green List (High Evidence).","entity_name":"GALE","entity_type":"gene"},{"created":"2022-10-05T17:47:28.022393+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALE.","entity_name":"GALE","entity_type":"gene"},{"created":"2022-10-05T17:47:00.345929+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4955","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALE.","entity_name":"GALE","entity_type":"gene"},{"created":"2022-10-05T17:46:41.020798+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALE.","entity_name":"GALE","entity_type":"gene"},{"created":"2022-10-05T17:46:32.593518+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALE.","entity_name":"GALE","entity_type":"gene"},{"created":"2022-10-05T17:46:24.306410+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactose epimerase deficiency MIM#230350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GALE","entity_type":"gene"},{"created":"2022-10-05T17:37:52.893328+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALK1 as ready","entity_name":"GALK1","entity_type":"gene"},{"created":"2022-10-05T17:37:52.884526+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galk1 has been classified as Green List (High Evidence).","entity_name":"GALK1","entity_type":"gene"},{"created":"2022-10-05T17:37:35.751016+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.345","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALK1.","entity_name":"GALK1","entity_type":"gene"},{"created":"2022-10-05T17:37:21.169095+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALK1.","entity_name":"GALK1","entity_type":"gene"},{"created":"2022-10-05T17:37:12.424530+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALK1.","entity_name":"GALK1","entity_type":"gene"},{"created":"2022-10-05T17:37:03.455452+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALK1.","entity_name":"GALK1","entity_type":"gene"},{"created":"2022-10-05T17:36:47.437869+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GALK1","entity_type":"gene"},{"created":"2022-10-05T17:32:14.745938+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALT.","entity_name":"GALT","entity_type":"gene"},{"created":"2022-10-05T17:31:57.407412+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALT.","entity_name":"GALT","entity_type":"gene"},{"created":"2022-10-05T17:31:39.954599+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.306","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALT.","entity_name":"GALT","entity_type":"gene"},{"created":"2022-10-05T17:31:22.324436+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALT.","entity_name":"GALT","entity_type":"gene"},{"created":"2022-10-05T17:31:05.503189+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4955","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALT.","entity_name":"GALT","entity_type":"gene"},{"created":"2022-10-05T17:30:26.715567+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GALT.","entity_name":"GALT","entity_type":"gene"},{"created":"2022-10-05T17:29:47.793585+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALT as ready","entity_name":"GALT","entity_type":"gene"}]}