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{
"count": 220771,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=743",
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"results": [
{
"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"
},
{
"created": "2022-09-26T12:12:15.028766+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.199",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2022-09-26T12:11:22.546909+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.199",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2022-09-26T12:09:50.578911+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.199",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2022-09-26T12:08:54.061171+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.199",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2022-09-26T12:04:58.560071+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.199",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2022-09-26T12:03:07.932749+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.199",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-09-26T12:01:30.733607+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.199",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-09-26T11:59:47.828603+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.199",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2022-09-26T11:58:59.937512+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.199",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2022-09-26T11:57:56.562283+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.199",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-09-26T11:57:40.293159+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.199",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-09-26T11:56:45.204169+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.199",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2022-09-26T11:54:31.383429+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.199",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2022-09-26T11:53:15.961865+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.199",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2022-09-26T11:47:23.497296+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.199",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2022-09-24T15:25:45.410547+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRAF as ready",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2022-09-24T15:25:45.374242+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: braf has been classified as Red List (Low Evidence).",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2022-09-24T15:25:36.449592+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRAF as Red List (low evidence)",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2022-09-24T15:25:36.432868+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: braf has been classified as Red List (Low Evidence).",
"entity_name": "BRAF",
"entity_type": "gene"
}
]
}