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{
"count": 220504,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2026",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2024",
"results": [
{
"created": "2019-12-28T08:42:32.259891+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COQ5 as Red List (low evidence)",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2019-12-28T08:42:32.248956+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq5 has been classified as Red List (Low Evidence).",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2019-12-28T08:42:12.242846+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COQ5: Rating: RED; Mode of pathogenicity: None; Publications: 29044765; Phenotypes: Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2019-12-28T08:30:44.936773+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EEF2 as ready",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2019-12-28T08:30:44.924599+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eef2 has been classified as Red List (Low Evidence).",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2019-12-28T08:30:06.739790+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EEF2 were changed from to Spinocerebellar ataxia 26",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2019-12-28T08:29:47.732568+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EEF2 were set to ",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2019-12-28T08:29:28.586848+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EEF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2019-12-28T08:29:09.386168+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EEF2 as Red List (low evidence)",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2019-12-28T08:29:09.318537+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eef2 has been classified as Red List (Low Evidence).",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2019-12-28T08:28:37.028746+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EEF2: Rating: RED; Mode of pathogenicity: None; Publications: 15732118, 23001565; Phenotypes: Spinocerebellar ataxia 26; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2019-12-28T08:27:44.680096+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EEF2 as ready",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2019-12-28T08:27:44.669551+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eef2 has been classified as Red List (Low Evidence).",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2019-12-28T08:27:34.583454+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EEF2 were changed from to Spinocerebellar ataxia 26",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2019-12-28T08:27:18.386051+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EEF2 were set to ",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2019-12-28T08:27:02.941072+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EEF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2019-12-28T08:26:43.491772+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EEF2 as Red List (low evidence)",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2019-12-28T08:26:43.478102+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eef2 has been classified as Red List (Low Evidence).",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2019-12-28T08:26:24.324503+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EEF2: Rating: RED; Mode of pathogenicity: None; Publications: 15732118, 23001565; Phenotypes: Spinocerebellar ataxia 26; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:38.897111+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: YY1 was added\ngene: YY1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: YY1 were set to Gabriele-de Vries syndrome 617557",
"entity_name": "YY1",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:38.826669+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WDR73 was added\ngene: WDR73 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR73 were set to Galloway-Mowat syndrome 1, 251300",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:38.756531+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WDR45 was added\ngene: WDR45 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 300894; beta-propeller protein-associated neurodegeneration; Dystonia",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:38.686609+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VPS13A was added\ngene: VPS13A was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS13A were set to complex parkinsonism; Choreoacanthocytosis 200150",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:38.617561+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VAC14 was added\ngene: VAC14 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VAC14 were set to Striatonigral degeneration, childhood-onset 617054",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:38.480390+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TPK1 was added\ngene: TPK1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type); Dystonia",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:38.410698+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TOR1AIP1 was added\ngene: TOR1AIP1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Red\nMode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOR1AIP1 were set to 25425325\nPhenotypes for gene: TOR1AIP1 were set to Dystonia, cerebellar atrophy, and cardiomyopathy",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:38.262139+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TIMM8A was added\ngene: TIMM8A was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TIMM8A was set to \nPhenotypes for gene: TIMM8A were set to Deafness-Dystonia-Optic Neuronopathy Syndrome",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:37.990566+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SYNJ1 was added\ngene: SYNJ1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SYNJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SYNJ1 were set to juvenile Parkinsonism; Parkinson disease 20, early-onset",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:37.916108+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SUCLA2 was added\ngene: SUCLA2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); Dystonia",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:37.780662+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC6A3 was added\ngene: SLC6A3 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC6A3 were set to Dopamine transporter deficiency; Parkinsonism-dystonia, infantile, 613135",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:37.706408+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC39A14 was added\ngene: SLC39A14 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2 617013",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:37.633541+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC30A10 was added\ngene: SLC30A10 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC30A10 were set to Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:37.490072+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC20A2 was added\ngene: SLC20A2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC20A2 were set to Basal ganglia calcification, idiopathic, 1 213600; Dystonia",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:37.420695+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC19A3 was added\ngene: SLC19A3 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483; Dystonia",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:37.279496+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SERAC1 was added\ngene: SERAC1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERAC1 were set to 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; Lesions in the basal ganglia",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:37.207506+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: QDPR was added\ngene: QDPR was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630; Dihydropteridine reductase deficiency; Dystonia",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:37.138329+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTS was added\ngene: PTS was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640; 6-Pyruvoyltetrahydropterin Synthase Deficiency; Dystonia",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:37.064235+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PSEN1 was added\ngene: PSEN1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PSEN1 were set to 28664294; 12810495; 15159497; 29316780\nPhenotypes for gene: PSEN1 were set to Frontotemporal dementia; Dystonia",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:36.847611+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRKN was added\ngene: PRKN was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRKN were set to juvenile parkinsonism/dystonia; Parkinson disease, juvenile, type 2; Dystonia",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:36.710273+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLA2G6 was added\ngene: PLA2G6 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLA2G6 were set to Parkinson disease 14, autosomal recessive 612953; PLA2G6-associated neurodegeneration; Neurodegeneration with brain iron accumulation 2B 610217; Infantile neuroaxonal dystrophy 1 256600",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:36.638611+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PINK1 was added\ngene: PINK1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PINK1 were set to Parkinson disease 6, early onset; Dystonia",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:36.570186+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDGFRB was added\ngene: PDGFRB was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PDGFRB were set to Dystonia; Basal ganglia calcification, idiopathic, 4 615007",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:36.499776+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDGFB was added\ngene: PDGFB was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PDGFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PDGFB were set to Basal ganglia calcification, idiopathic, 5 615483",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:36.428618+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PANK2 was added\ngene: PANK2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PANK2 were set to pantothenate kinase-associated neurodegeneration; Dystonia",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:36.357013+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NPC2 was added\ngene: NPC2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPC2 were set to Niemann-Pick disease type C2; Dystonia",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:36.289208+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NPC1 was added\ngene: NPC1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPC1 were set to Niemann-Pick disease type C1",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:36.221688+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NKX6-2 was added\ngene: NKX6-2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:35.878428+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HTRA2 was added\ngene: HTRA2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII 617248",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:35.807508+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HPRT1 was added\ngene: HPRT1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome; Dystonia",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:35.677835+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GNB1 was added\ngene: GNB1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GNB1 were set to 30194818\nPhenotypes for gene: GNB1 were set to Mental retardation, autosomal dominant 42; Myoclonus dystonia",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:35.610416+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GNAO1 was added\ngene: GNAO1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GNAO1 were set to Neurodevelopmental disorder with involuntary movements, 617493",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:35.480294+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GLB1 was added\ngene: GLB1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLB1 were set to Infantile GM1 gangliosidosis",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:35.330760+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GCDH was added\ngene: GCDH was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCDH were set to Glutaric aciduria, type 1; Dystonia",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:35.259038+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FTL was added\ngene: FTL was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FTL were set to Neurodegeneration with brain iron accumulation 3 606159",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:35.192783+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FOXG1 was added\ngene: FOXG1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FOXG1 were set to Rett syndrome, congenital variant; Dystonia",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:35.125865+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FBXO7 was added\ngene: FBXO7 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FBXO7 were set to juvenile parkinsonism; Dystonia",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:35.060959+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FA2H was added\ngene: FA2H was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FA2H were set to Dystonia; Spastic paraplegia 35, autosomal recessive 612319; fatty acid hydroxylase-associated neurodegeneration",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:34.897981+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DNAJC12 was added\ngene: DNAJC12 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384",
"entity_name": "DNAJC12",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:34.828641+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DLAT was added\ngene: DLAT was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLAT were set to Pyruvate dehydrogenase E2 deficiency 245348; Dystonia",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:34.758881+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DDC was added\ngene: DDC was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, 608643; Dystonia",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:34.692316+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DCAF17 was added\ngene: DCAF17 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome; Dystonia",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:34.624995+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYP27A1 was added\ngene: CYP27A1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP27A1 were set to Cholestanol storage disease; Dystonia",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:34.555118+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CP was added\ngene: CP was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CP were set to Hemosiderosis, systemic, due to aceruloplasminemia 604290; Dystonia; Cerebellar ataxia 604290; Aceruloplasminemia; [Hypoceruloplasminemia, hereditary] 604290",
"entity_name": "CP",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:34.420906+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COASY was added\ngene: COASY was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COASY were set to COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6 615643",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:34.283808+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CHMP2B was added\ngene: CHMP2B was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Red\nMode of inheritance for gene: CHMP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CHMP2B were set to 20301378\nPhenotypes for gene: CHMP2B were set to familial frontotemporal lobar degeneration (ALS17); Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Dystonia",
"entity_name": "CHMP2B",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:34.213137+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: C19orf12 was added\ngene: C19orf12 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: C19orf12 were set to mitochondrial membrane protein-associated neurodegeneration; neurodegeneration with brain iron accumulation-4; Dystonia",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:34.144345+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BCAP31 was added\ngene: BCAP31 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:34.079596+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AUH was added\ngene: AUH was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AUH were set to 3-Methylglutaconic aciduria type 1; Dystonia",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:34.010344+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP7B was added\ngene: ATP7B was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP7B were set to Wilson disease 277900; Dystonia",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:33.880916+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP13A2 was added\ngene: ATP13A2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP13A2 were set to Parkinson disease; Kufor-Rakeb syndrome 606693; Dystonia",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:33.816196+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATM was added\ngene: ATM was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATM were set to Ataxia telangiectasia; Dystonia",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:33.750903+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARX was added\ngene: ARX was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: ARX were set to Early infantile epileptic encephalopathy; Dystonia",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:33.684038+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: APTX was added\ngene: APTX was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APTX were set to Ataxia-oculomotor apraxia type 1; Dystonia",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:33.474942+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADAR was added\ngene: ADAR was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAR were set to dystonia; Aicardi-Goutieres syndrome 6, 615010",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:33.408982+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACTB was added\ngene: ACTB was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ACTB were set to 29788902; 28487785\nPhenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1, 243310; Dystonia, juvenile-onset, 607371",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-12-27T17:37:33.348095+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Dystonia - complex_RMH",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-27T16:57:50.295179+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAT2 as ready",
"entity_name": "FAT2",
"entity_type": "gene"
},
{
"created": "2019-12-27T16:57:50.284150+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fat2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAT2",
"entity_type": "gene"
},
{
"created": "2019-12-27T16:57:40.348117+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAT2 as Amber List (moderate evidence)",
"entity_name": "FAT2",
"entity_type": "gene"
},
{
"created": "2019-12-27T16:57:40.337207+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fat2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAT2",
"entity_type": "gene"
},
{
"created": "2019-12-27T16:57:05.073262+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAT2 was added\ngene: FAT2 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: FAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FAT2 were set to 29053796\nPhenotypes for gene: FAT2 were set to Spinocerebellar ataxia 45, MIM#617769\nReview for gene: FAT2 was set to AMBER\nAdded comment: Segregates in one family, and identified in one apparently sporadic case. In vitro functional evidence. \nSources: Expert list",
"entity_name": "FAT2",
"entity_type": "gene"
},
{
"created": "2019-12-27T16:09:33.429302+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDAP2 as ready",
"entity_name": "GDAP2",
"entity_type": "gene"
},
{
"created": "2019-12-27T16:09:33.418273+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdap2 has been classified as Green List (High Evidence).",
"entity_name": "GDAP2",
"entity_type": "gene"
},
{
"created": "2019-12-27T16:09:22.801475+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GDAP2 as Green List (high evidence)",
"entity_name": "GDAP2",
"entity_type": "gene"
},
{
"created": "2019-12-27T16:09:22.789357+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdap2 has been classified as Green List (High Evidence).",
"entity_name": "GDAP2",
"entity_type": "gene"
},
{
"created": "2019-12-27T16:08:49.553006+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDAP2 was added\ngene: GDAP2 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: GDAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GDAP2 were set to 30084953\nPhenotypes for gene: GDAP2 were set to Spinocerebellar ataxia, autosomal recessive 27, MIM#618369\nReview for gene: GDAP2 was set to GREEN\nAdded comment: Two families and animal model. \nSources: Expert list",
"entity_name": "GDAP2",
"entity_type": "gene"
},
{
"created": "2019-12-27T15:54:16.294038+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DOCK3 as Green List (high evidence)",
"entity_name": "DOCK3",
"entity_type": "gene"
},
{
"created": "2019-12-27T15:54:16.283203+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dock3 has been classified as Green List (High Evidence).",
"entity_name": "DOCK3",
"entity_type": "gene"
},
{
"created": "2019-12-27T15:54:01.754696+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DOCK3 was added\ngene: DOCK3 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: DOCK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK3 were set to Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292\nReview for gene: DOCK3 was set to GREEN\nAdded comment: Ataxia is a feature of the phenotype \nSources: Expert list",
"entity_name": "DOCK3",
"entity_type": "gene"
},
{
"created": "2019-12-27T15:30:25.349161+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATP2B3 as ready",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2019-12-27T15:30:25.336196+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp2b3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2019-12-27T15:30:22.162621+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP2B3 as Amber List (moderate evidence)",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2019-12-27T15:30:22.151646+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp2b3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2019-12-27T15:26:48.432022+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22912398, 27653636, 27632770; Phenotypes: ; 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": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2019-12-27T15:11:06.175203+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARMC9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 30, MIM#617622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2019-12-27T15:08:08.450301+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: AP1S2 as ready",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2019-12-27T15:08:08.439345+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ap1s2 has been classified as Green List (High Evidence).",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2019-12-27T15:07:52.675199+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AP1S2 as Green List (high evidence)",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2019-12-27T15:07:52.664298+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ap1s2 has been classified as Green List (High Evidence).",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2019-12-27T15:07:39.661147+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AP1S2 was added\ngene: AP1S2 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, MIM#304340\nReview for gene: AP1S2 was set to GREEN\nAdded comment: Ataxia is part of the phenotype \nSources: Expert list",
"entity_name": "AP1S2",
"entity_type": "gene"
}
]
}