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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=742",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=740",
"results": [
{
"created": "2022-09-26T19:40:48.143040+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional to Epidermolysis bullosa, junctional 3B, severe, MIM# 619786",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:35:09.724032+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMC2 as Red List (low evidence)",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:35:09.715707+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamc2 has been classified as Red List (Low Evidence).",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:34:56.551513+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 3B, severe, MIM# 619786; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:32:45.213912+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amelogenesis imperfecta, type IA, MIM# 104530, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:31:30.650056+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMB2 as ready",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:31:30.641742+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamb2 has been classified as Red List (Low Evidence).",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:31:25.501178+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMB2 were changed from Pierson syndrome to Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Pierson syndrome, MIM# 609049",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:31:11.000078+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMB2 as Red List (low evidence)",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:31:10.991051+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamb2 has been classified as Red List (Low Evidence).",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:30:57.947886+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199, Pierson syndrome, MIM# 609049; Mode of inheritance: None",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:29:13.268728+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA3 as ready",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:29:13.260205+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama3 has been classified as Red List (Low Evidence).",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:29:08.758185+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional to Epidermolysis bullosa, junctional 2B, severe, MIM# 619784",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:28:51.596189+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMA3 as Red List (low evidence)",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:28:51.586859+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama3 has been classified as Red List (Low Evidence).",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:28:37.925526+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 2B, severe, MIM# 619784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:27:32.253744+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: LAMA2.",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:27:19.473822+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:25:52.638015+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: L1CAM.",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-09-26T19:25:40.738954+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-09-26T18:01:39.020662+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:44:55.568588+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chediak-Higashi syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:44:32.268130+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:42:01.843420+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LTBP4-related cutis laxa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:41:18.296502+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:39:19.907475+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: LRTOMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-syndromic deafness, prelingual; Mode of inheritance: None",
"entity_name": "LRTOMT",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:36:29.378210+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: LRSAM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CMT2G, CMT2P; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:35:49.333496+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:31:34.665695+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:29:14.308784+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:28:11.070984+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leigh syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:26:25.314297+10:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPT2 as ready",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:26:25.303705+10:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpt2 has been classified as Green List (High Evidence).",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:26:20.904645+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:26:20.729613+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: CPT2.",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:26:01.373917+10:00",
"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: CPT2.",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:25:41.656311+10:00",
"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: CPT2.",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:25:24.235752+10:00",
"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: CPT2.",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:24:47.329942+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: CPT2.",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:24:25.663459+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "David Amor",
"item_type": "entity",
"text": "edited their review of gene: LRP5: Changed phenotypes: osteoporosis-pseudoglioma syndrome, cause exudative vireoretinopathy, osteopetrosis",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:24:23.988445+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: CPT2.",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:24:06.428030+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: CPT2.",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:23:54.611071+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPT2 as ready",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:23:54.592563+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpt2 has been classified as Green List (High Evidence).",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:23:50.549971+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CPT2 were changed from Carnitine palmitoyltransferase 2 deficiency to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:23:38.277417+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CPT2 were set to ",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:23:32.438572+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.203",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:23:23.747417+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CPT2.",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:23:11.444879+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32885845; Phenotypes: CPT II deficiency, infantile 600649, CPT II deficiency, lethal neonatal 608836, CPT II deficiency, myopathic, stress-induced 255110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:15:21.693626+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: CPT1A.",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:15:02.979158+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: CPT1A.",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:12:50.488356+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.203",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:12:26.553619+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.203",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: congenital myaesthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:08:38.119062+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: CPT1A.",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:07:41.914707+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: CPT1A.",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:07:32.357028+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPT1A as ready",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:07:32.348287+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpt1a has been classified as Green List (High Evidence).",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:07:27.961387+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CPT1A were set to ",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:07:15.583167+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CPT1A.",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:07:04.242837+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32885845; Phenotypes: CPT deficiency, hepatic, type IA, MIM# 255120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:05:25.053932+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.202",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Donnai-Barrow syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:03:36.621990+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: BCKDHB.",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:03:20.277371+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: BCKDHB.",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:02:40.531196+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BCKDHB.",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:02:22.954908+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BCKDHB.",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:02:16.260700+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.202",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: LOXHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: non-syndromic deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LOXHD1",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:02:07.127049+10:00",
"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: BCKDHB.",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:01:52.036995+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BCKDHB.",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:01:29.849400+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: BCKDHB.",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:00:58.731421+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCKDHB as ready",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:00:58.722239+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bckdhb has been classified as Green List (High Evidence).",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:00:54.931966+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCKDHB were changed from Maple syrup urine disease to Maple syrup urine disease, type Ib, MIM# 248600",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:00:37.752160+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BCKDHB.",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-09-26T17:00:27.802991+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ib, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:59:08.615900+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: BCKDHA.",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:58:52.687666+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: BCKDHA.",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:58:34.916953+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BCKDHA.",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:58:17.769696+10:00",
"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: BCKDHA.",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:58:02.287775+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BCKDHA.",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:57:42.052161+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: BCKDHA.",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:57:34.581464+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.201",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nail-patella syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:57:26.807162+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCKDHA as ready",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:57:26.798087+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bckdha has been classified as Green List (High Evidence).",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:57:22.781513+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCKDHA were changed from Maple syrup urine disease to Maple syrup urine disease, type Ia, MIM# 248600",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:57:09.733346+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: BCKDHA.",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:56:57.219930+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:55:02.862507+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DBT as ready",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:55:02.852554+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4951",
"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": "2022-09-26T16:54:53.711144+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: DBT.",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:54:33.474560+10:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DBT as ready",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:54:33.464621+10:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.6",
"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": "2022-09-26T16:54:28.582893+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: DBT.",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:54:07.096003+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DBT as ready",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:54:07.085518+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.505",
"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": "2022-09-26T16:53:43.649080+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.505",
"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": "2022-09-26T16:53:16.588646+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4951",
"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": "2022-09-26T16:52:53.747234+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.200",
"user_name": "David Amor",
"item_type": "entity",
"text": "edited their review of gene: LMOD3: Changed rating: GREEN",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2022-09-26T16:52:38.964376+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4950",
"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": "2022-09-26T16:52:16.330332+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.200",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: LMOD3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMOD3",
"entity_type": "gene"
}
]
}