{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=743","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=741","results":[{"created":"2022-09-26T16:52:09.797649+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4949","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DBT.","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:51:54.811093+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4949","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:51:09.581369+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1672","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DBT as ready","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:51:09.572151+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1672","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dbt has been classified as Green List (High Evidence).","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:51:02.142795+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.504","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DBT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:51:02.131186+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1672","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DBT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:50:25.948801+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.503","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DBT.","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:50:16.789553+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.503","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:50:02.100061+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1671","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DBT were changed from  to Maple syrup urine disease, type II (MIM#248600)","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:49:05.843081+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1670","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DBT.","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:48:49.736374+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DBT as ready","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:48:49.725227+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dbt has been classified as Green List (High Evidence).","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:48:26.383340+10:00","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: DBT.","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:48:05.797405+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DBT.","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:48:04.870508+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.200","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined methylmalonic acidemia and homocystinuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2022-09-26T16:47:53.860542+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:44:33.605882+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.200","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LITAF: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: CMT1C; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LITAF","entity_type":"gene"},{"created":"2022-09-26T16:40:32.632817+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: HMGCL.","entity_name":"HMGCL","entity_type":"gene"},{"created":"2022-09-26T16:40:12.832452+10:00","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: HMGCL.","entity_name":"HMGCL","entity_type":"gene"},{"created":"2022-09-26T16:39:54.097669+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: HMGCL.","entity_name":"HMGCL","entity_type":"gene"},{"created":"2022-09-26T16:39:35.941785+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4949","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: HMGCL.","entity_name":"HMGCL","entity_type":"gene"},{"created":"2022-09-26T16:39:17.154327+10:00","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: HMGCL.","entity_name":"HMGCL","entity_type":"gene"},{"created":"2022-09-26T16:39:00.753303+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1670","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: HMGCL.","entity_name":"HMGCL","entity_type":"gene"},{"created":"2022-09-26T16:38:38.374541+10:00","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: HMGCL.","entity_name":"HMGCL","entity_type":"gene"},{"created":"2022-09-26T16:38:17.073031+10:00","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: HMGCL.","entity_name":"HMGCL","entity_type":"gene"},{"created":"2022-09-26T16:37:55.017199+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: HMGCL.","entity_name":"HMGCL","entity_type":"gene"},{"created":"2022-09-26T16:37:26.831695+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ACAT1.","entity_name":"ACAT1","entity_type":"gene"},{"created":"2022-09-26T16:37:06.476475+10:00","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: ACAT1.","entity_name":"ACAT1","entity_type":"gene"},{"created":"2022-09-26T16:36:43.122496+10:00","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: ACAT1.","entity_name":"ACAT1","entity_type":"gene"},{"created":"2022-09-26T16:36:21.974722+10:00","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: ACAT1.","entity_name":"ACAT1","entity_type":"gene"},{"created":"2022-09-26T16:35:40.503166+10:00","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: ASS1.","entity_name":"ASS1","entity_type":"gene"},{"created":"2022-09-26T16:35:20.303197+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ASS1.","entity_name":"ASS1","entity_type":"gene"},{"created":"2022-09-26T16:35:00.685097+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4949","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ASS1.","entity_name":"ASS1","entity_type":"gene"},{"created":"2022-09-26T16:34:43.220182+10:00","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: ASS1.","entity_name":"ASS1","entity_type":"gene"},{"created":"2022-09-26T16:34:40.571841+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.63","user_name":"Sue White","item_type":"entity","text":"Classified gene: GDF5 as Red List (low evidence)","entity_name":"GDF5","entity_type":"gene"},{"created":"2022-09-26T16:34:40.562999+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.63","user_name":"Sue White","item_type":"entity","text":"Gene: gdf5 has been classified as Red List (Low Evidence).","entity_name":"GDF5","entity_type":"gene"},{"created":"2022-09-26T16:33:44.194803+10:00","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: ASS1.","entity_name":"ASS1","entity_type":"gene"},{"created":"2022-09-26T16:33:42.254403+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.200","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolman disease, cholesterol ester storage disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIPA","entity_type":"gene"},{"created":"2022-09-26T16:33:32.555649+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.62","user_name":"Sue White","item_type":"entity","text":"gene: HOXD13 was added\ngene: HOXD13 was added to Hand and foot malformations. Sources: Literature\nMode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HOXD13 were set to 12649808; 17236141\nPhenotypes for gene: HOXD13 were set to brachydactyly","entity_name":"HOXD13","entity_type":"gene"},{"created":"2022-09-26T16:33:26.547315+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASS1 as ready","entity_name":"ASS1","entity_type":"gene"},{"created":"2022-09-26T16:33:26.521809+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ass1 has been classified as Green List (High Evidence).","entity_name":"ASS1","entity_type":"gene"},{"created":"2022-09-26T16:33:20.366299+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ASS1.","entity_name":"ASS1","entity_type":"gene"},{"created":"2022-09-26T16:33:08.484659+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ASS1 were changed from Citrullinemia, MIM#215700 to Citrullinaemia, MIM#215700","entity_name":"ASS1","entity_type":"gene"},{"created":"2022-09-26T16:32:54.448170+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinaemia MIM#215700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ASS1","entity_type":"gene"},{"created":"2022-09-26T16:30:14.267046+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACAT1 as ready","entity_name":"ACAT1","entity_type":"gene"},{"created":"2022-09-26T16:30:14.257880+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acat1 has been classified as Green List (High Evidence).","entity_name":"ACAT1","entity_type":"gene"},{"created":"2022-09-26T16:30:00.739137+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-methylacetoacetic aciduria, MIM#203750, Beta-ketothiolase deficiency MONDO:0008760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACAT1","entity_type":"gene"},{"created":"2022-09-26T16:29:51.971765+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.61","user_name":"Sue White","item_type":"entity","text":"Classified gene: GDF5 as Green List (high evidence)","entity_name":"GDF5","entity_type":"gene"},{"created":"2022-09-26T16:29:51.962891+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.61","user_name":"Sue White","item_type":"entity","text":"Gene: gdf5 has been classified as Green List (High Evidence).","entity_name":"GDF5","entity_type":"gene"},{"created":"2022-09-26T16:29:38.526023+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.60","user_name":"Sue White","item_type":"entity","text":"gene: GDF5 was added\ngene: GDF5 was added to Hand and foot malformations. Sources: Literature\nMode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GDF5 were set to 9288091; 16127465; 12567410\nPhenotypes for gene: GDF5 were set to brachydactyly\nPenetrance for gene: GDF5 were set to unknown","entity_name":"GDF5","entity_type":"gene"},{"created":"2022-09-26T16:29:16.865874+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome, immunodeficiency, developmental delay, growth delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIG4","entity_type":"gene"},{"created":"2022-09-26T16:26:59.415176+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HMGCL as ready","entity_name":"HMGCL","entity_type":"gene"},{"created":"2022-09-26T16:26:59.404427+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hmgcl has been classified as Green List (High Evidence).","entity_name":"HMGCL","entity_type":"gene"},{"created":"2022-09-26T16:26:46.428584+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HMGCL","entity_type":"gene"},{"created":"2022-09-26T16:24:56.220843+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stuve-Wiedemann syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIFR","entity_type":"gene"},{"created":"2022-09-26T16:18:17.340553+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: combined pituitary hormone deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-09-26T16:01:08.696670+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.236","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: LSR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32303357, 30250217, 15265030; Phenotypes: transient neonatal cholestasis, intellectual disability, short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LSR","entity_type":"gene"},{"created":"2022-09-26T14:56:27.679999+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency; Mode of inheritance: None","entity_name":"LHX3","entity_type":"gene"},{"created":"2022-09-26T14:52:02.196719+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LHFPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-syndromic deafness, prelingual; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2022-09-26T14:17:41.903917+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: severe early onset obesity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LEPR","entity_type":"gene"},{"created":"2022-09-26T14:09:59.668900+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: familial hypercholesterolemia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"LDLR","entity_type":"gene"},{"created":"2022-09-26T14:06:59.272230+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome, sensorineural hearing loss, ovarian dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LARS2","entity_type":"gene"},{"created":"2022-09-26T14:04:06.947187+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wlaker-Warburg syndrome, muscular dystrophy-dystroglycanopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LARGE1","entity_type":"gene"},{"created":"2022-09-26T13:58:30.207341+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LAMTOR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 17195838; Phenotypes: Immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2022-09-26T13:47:02.350884+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease - cardiomyopathy, retinal disease, cognitive dysfunction; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"LAMP2","entity_type":"gene"},{"created":"2022-09-26T13:42:15.473858+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Junctional epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMC2","entity_type":"gene"},{"created":"2022-09-26T13:40:27.594297+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LAMB3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Junctional epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMB3","entity_type":"gene"},{"created":"2022-09-26T13:38:14.275812+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pierson syndrome - congenital nephrotic syndrome and eye abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMB2","entity_type":"gene"},{"created":"2022-09-26T13:32:02.299656+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Junctional epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA3","entity_type":"gene"},{"created":"2022-09-26T13:27:04.029990+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LAMA2 muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA2","entity_type":"gene"},{"created":"2022-09-26T13:22:35.021966+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, X-linked corpus callosum agenesis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"L1CAM","entity_type":"gene"},{"created":"2022-09-26T13:18:04.738437+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"Deleted their review","entity_name":"L1CAM","entity_type":"gene"},{"created":"2022-09-26T13:15:44.860628+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"David Amor","item_type":"entity","text":"reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, X-linked corpus callosu agenesis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"L1CAM","entity_type":"gene"},{"created":"2022-09-26T12:47:04.665903+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SMN1","entity_type":"gene"},{"created":"2022-09-26T12:45:55.732134+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACADVL","entity_type":"gene"},{"created":"2022-09-26T12:42:26.530391+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GALE","entity_type":"gene"},{"created":"2022-09-26T12:41:39.173124+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GALK1","entity_type":"gene"},{"created":"2022-09-26T12:41:16.260781+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"commented on gene: GALT: part of newborn screening programs nationally (but not in Victoria)","entity_name":"GALT","entity_type":"gene"},{"created":"2022-09-26T12:40:42.509354+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GALT","entity_type":"gene"},{"created":"2022-09-26T12:39:38.884999+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TAT","entity_type":"gene"},{"created":"2022-09-26T12:38:05.486852+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCCB","entity_type":"gene"},{"created":"2022-09-26T12:37:38.249391+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCCA","entity_type":"gene"},{"created":"2022-09-26T12:35:08.156680+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCBD1","entity_type":"gene"},{"created":"2022-09-26T12:30:07.335118+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"QDPR","entity_type":"gene"},{"created":"2022-09-26T12:26:43.135319+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTS","entity_type":"gene"},{"created":"2022-09-26T12:25:44.520321+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PAH","entity_type":"gene"},{"created":"2022-09-26T12:24:49.466696+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ETFB","entity_type":"gene"},{"created":"2022-09-26T12:24:29.049310+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ETFA","entity_type":"gene"},{"created":"2022-09-26T12:24:00.925112+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ETFDH","entity_type":"gene"},{"created":"2022-09-26T12:22:47.592851+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HADHB","entity_type":"gene"},{"created":"2022-09-26T12:22:22.965498+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HADHA","entity_type":"gene"},{"created":"2022-09-26T12:21:29.504511+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MMAB","entity_type":"gene"},{"created":"2022-09-26T12:20:47.249899+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MMAA","entity_type":"gene"},{"created":"2022-09-26T12:19:48.202803+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MUT","entity_type":"gene"},{"created":"2022-09-26T12:17:11.024977+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACADM","entity_type":"gene"},{"created":"2022-09-26T12:16:28.275193+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IVD","entity_type":"gene"},{"created":"2022-09-26T12:15:40.120002+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BTD","entity_type":"gene"},{"created":"2022-09-26T12:14:57.130195+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HLCS","entity_type":"gene"},{"created":"2022-09-26T12:13:47.876156+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GCDH","entity_type":"gene"},{"created":"2022-09-26T12:12:50.612595+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.199","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CBS","entity_type":"gene"}]}