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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1989",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1987",
"results": [
{
"created": "2020-01-14T14:15:35.742995+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MLH1 as ready",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:15:35.729578+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mlh1 has been classified as Red List (Low Evidence).",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:14:59.807598+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MNX1 as ready",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:14:59.795903+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mnx1 has been classified as Red List (Low Evidence).",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:14:29.250958+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPZ as ready",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:14:29.239601+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpz has been classified as Red List (Low Evidence).",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:13:51.693832+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRAP as ready",
"entity_name": "MRAP",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:13:51.681510+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrap has been classified as Red List (Low Evidence).",
"entity_name": "MRAP",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:12.130343+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WHRN was added\ngene: WHRN was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WHRN were set to Usher syndrome, type 2D, 611383",
"entity_name": "WHRN",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:12.055274+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: USH2A was added\ngene: USH2A was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USH2A were set to Usher syndrome, type 2A, 276901; Retinitis pigmentosa 39, 613809",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:11.972987+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: USH1G was added\ngene: USH1G was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USH1G were set to Usher syndrome, type 1G, 606943",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:11.897608+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: USH1C was added\ngene: USH1C was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USH1C were set to Usher syndrome, type 1C, 276904",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:11.823090+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX6 was added\ngene: PEX6 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX6 were set to Heimler syndrome 2, 616617",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:11.748998+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX1 was added\ngene: PEX1 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX1 were set to Heimler syndrome 1, 234580",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:11.676781+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDZD7 was added\ngene: PDZD7 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PDZD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDZD7 were set to Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:11.597246+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PCDH15 was added\ngene: PCDH15 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCDH15 were set to Usher syndrome Type 1F; Usher syndrome, type 1D/F digenic",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:11.523788+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYO7A was added\ngene: MYO7A was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO7A were set to Usher syndrome, type 1B, 276900",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:11.451037+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HARS was added\ngene: HARS was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HARS were set to Usher syndrome type 3B",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:11.378673+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ESPN was added\ngene: ESPN was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ESPN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ESPN were set to ?Usher syndrome, type 1M, 618632; Deafness, autosomal recessive 36, 609006",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:11.304900+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLRN1 was added\ngene: CLRN1 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLRN1 were set to ?Usher syndrome, type 3A, 276902Retinitis pigmentosa 61, 614180",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:11.232997+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CIB2 was added\ngene: CIB2 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CIB2 were set to Usher syndrome, type IJ, 614869",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:11.161812+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CEP78 was added\ngene: CEP78 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP78 were set to Cone-Rod Dystrophy and Hearing Loss, 617236",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:11.087970+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CEP250 was added\ngene: CEP250 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CEP250 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP250 were set to Usher-like disease; Cone-rod dystrophy and hearing loss 2, 618358",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:11.014509+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CDH23 was added\ngene: CDH23 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDH23 were set to Usher syndrome, type 1D 601067; Usher syndrome, type 1D/F digenic 601067",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:10.940958+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARSG was added\ngene: ARSG was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ARSG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARSG were set to Usher syndrome, type IV, 618144",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:10.868747+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADGRV1 was added\ngene: ADGRV1 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:10.795601+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABHD12 was added\ngene: ABHD12 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857; Usher syndrome type 3",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:51:10.750287+11:00",
"panel_name": "Usher Syndrome_RMH",
"panel_id": 3086,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Usher Syndrome_RMH",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-14T13:20:50.784157+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TYMP was added\ngene: TYMP was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:50.708664+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TSFM was added\ngene: TSFM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3 610505",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:50.630507+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TSEN54 was added\ngene: TSEN54 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN54 were set to ?Pontocerebellar hypoplasia type 5 610204; Pontocerebellar hypoplasia type 4 225753; Pontocerebellar hypoplasia type 2A 277470",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:50.552532+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TK2 was added\ngene: TK2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:50.476270+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TANGO2 was added\ngene: TANGO2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:50.401266+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SUCLA2 was added\ngene: SUCLA2 was added to Rhabdomyolysis_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) 612073",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:50.326505+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC22A5 was added\ngene: SLC22A5 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary 212140",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:50.251739+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SIL1 was added\ngene: SIL1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome 248800",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:50.174391+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SCN4A was added\ngene: SCN4A was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SCN4A were set to Paramyotonia congenita, 168300; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Myasthenic syndrome, congenital, 16, 614198; Hyperkalemic periodic paralysis, type 2, 170500",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:50.099236+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RYR1 was added\ngene: RYR1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1}, 145600; Central core disease, 117000; King-Denborough syndrome, 145600; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Minicore myopathy with external ophthalmoplegia, 255320",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:50.017743+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RRM2B was added\ngene: RRM2B was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:49.937414+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RBCK1 was added\ngene: RBCK1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency 615895",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:49.862512+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PYGM was added\ngene: PYGM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYGM were set to Glycogen storage disease V McArdle disease 232600 AR",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:49.788702+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRKAG2 was added\ngene: PRKAG2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRKAG2 were set to Wolff-Parkinson-White syndrome 194200; Cardiomyopathy, hypertrophic 6 600858; Glycogen storage disease of heart, lethal congenital 261740",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:49.715960+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLG2 was added\ngene: POLG2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:49.642112+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLG was added\ngene: POLG was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459; Progressive external ophthalmoplegia, autosomal dominant 1 157640; Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700; Progressive external ophthalmoplegia, autosomal recessive 1 258450",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:49.568589+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PHKB was added\ngene: PHKB was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHKB were set to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750",
"entity_name": "PHKB",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:49.495162+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PHKA1 was added\ngene: PHKA1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PHKA1 were set to Muscle glycogenosis 300559",
"entity_name": "PHKA1",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:49.421991+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PGM1 was added\ngene: PGM1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It 614921",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:49.348366+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PGK1 was added\ngene: PGK1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency 300653",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:49.272847+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PGAM2 was added\ngene: PGAM2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGAM2 were set to Glycogen storage disease X 261670",
"entity_name": "PGAM2",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:49.197802+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PFKM was added\ngene: PFKM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PFKM were set to Glycogen storage disease VII 232800",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:49.124141+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LPIN1 was added\ngene: LPIN1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive 268200",
"entity_name": "LPIN1",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:49.049964+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LDHA was added\ngene: LDHA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LDHA were set to Glycogen storage disease XI 612933",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:48.976545+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LAMP2 was added\ngene: LAMP2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LAMP2 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: LAMP2 were set to Danon disease 300257",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:48.903571+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ISCU was added\ngene: ISCU was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ISCU was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ISCU were set to Myopathy with lactic acidosis, hereditary 255125",
"entity_name": "ISCU",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:48.831294+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HADHB was added\ngene: HADHB was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHB were set to Trifunctional protein deficiency 609015",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:48.758754+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HADHA was added\ngene: HADHA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHA were set to Trifunctional protein deficiency 609015",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:48.687213+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GYS1 was added\ngene: GYS1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle 611556",
"entity_name": "GYS1",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:48.616503+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GYG1 was added\ngene: GYG1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GYG1 were set to ?Glycogen storage disease XV 613507; Polyglucosan body myopathy 2 616199",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:48.545550+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GBE1 was added\ngene: GBE1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBE1 were set to Glycogen storage disease IV 232500",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:48.474396+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GAA was added\ngene: GAA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAA were set to Glycogen storage disease II 232300",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:48.403822+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FKTN was added\ngene: FKTN was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Fukuyama congenital muscular dystrophy",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:48.334180+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FKRP was added\ngene: FKRP was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:48.263188+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ETFDH was added\ngene: ETFDH was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFDH were set to Glutaric acidemia IIC 231680",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:48.185115+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ETFB was added\ngene: ETFB was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFB were set to Glutaric acidemia IIB 231680",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:48.114754+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ETFA was added\ngene: ETFA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFA were set to Glutaric acidemia IIA 231680",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:48.043929+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ENO3 was added\ngene: ENO3 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ENO3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ENO3 were set to ?Glycogen storage disease XIII 612932",
"entity_name": "ENO3",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:47.969514+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DYSF was added\ngene: DYSF was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B 253601; Myopathy, distal, with anterior tibial onset 606768; Miyoshi muscular dystrophy 1 254130",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:47.897197+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DMD was added\ngene: DMD was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DMD were set to Becker muscular dystrophy 300376",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:47.825003+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYP2C8 was added\ngene: CYP2C8 was added to Rhabdomyolysis_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: CYP2C8 was set to Unknown\nPhenotypes for gene: CYP2C8 were set to Rhabdomyolysis, cerivastatin-induced",
"entity_name": "CYP2C8",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:47.752438+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CPT2 was added\ngene: CPT2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT2 were set to CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:47.681797+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CAV3 was added\ngene: CAV3 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CAV3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CAV3 were set to Muscular dystrophy, limb-girdle, type IC 607801; Rippling muscle disease 606072; Myopathy, distal, Tateyama type 614321",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:47.612154+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CACNA1S was added\ngene: CACNA1S was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5}, 601887",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:47.542551+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANO5 was added\ngene: ANO5 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANO5 were set to Miyoshi muscular dystrophy 3 613319; Muscular dystrophy, limb-girdle, type 2L 611307",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:47.473338+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AMPD1 was added\ngene: AMPD1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMPD1 were set to Myopathy due to myoadenylate deaminase deficiency 615511; Rhabdomyolysis",
"entity_name": "AMPD1",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:47.403451+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALDOA was added\ngene: ALDOA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDOA were set to Glycogen storage disease XII 611881",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:47.334841+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AGL was added\ngene: AGL was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGL were set to Glycogen storage disease IIIa 232400; Glycogen storage disease IIIb 232400",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:47.265420+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACADVL was added\ngene: ACADVL was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADVL were set to VLCAD deficiency 201475",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:47.196160+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACADM was added\ngene: ACADM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of 201450; Rhabdomyolysis",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:47.122999+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACAD9 was added\ngene: ACAD9 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency 611126",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2020-01-14T13:20:47.079167+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Rhabdomyolysis_RMH",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-14T11:26:03.808455+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITSN1 as ready",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:26:03.796456+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itsn1 has been classified as Green List (High Evidence).",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:25:28.873100+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D8B as ready",
"entity_name": "TBC1D8B",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:25:28.860740+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d8b has been classified as Green List (High Evidence).",
"entity_name": "TBC1D8B",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:24:49.181773+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANLN as ready",
"entity_name": "ANLN",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:24:49.170122+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anln has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANLN",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:24:42.195440+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANLN were changed from Focal segmental glomerulosclerosis 8, OMIM #616032 to Focal segmental glomerulosclerosis 8, OMIM #616032",
"entity_name": "ANLN",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:24:09.817005+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANLN were changed from to Focal segmental glomerulosclerosis 8, OMIM #616032",
"entity_name": "ANLN",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:23:34.472552+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANLN were set to ",
"entity_name": "ANLN",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:23:00.877660+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANLN",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:22:03.035414+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD2AP as ready",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:22:03.022503+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd2ap has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:21:55.658730+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD2AP were changed from Glomerulosclerosis, focal segmental, 3, OMIM #607832 to Glomerulosclerosis, focal segmental, 3, OMIM #607832",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:21:13.111369+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD2AP were changed from to Glomerulosclerosis, focal segmental, 3, OMIM #607832",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:20:37.079812+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD2AP were set to ",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:19:58.964524+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD2AP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:13:51.037225+11:00",
"panel_name": "Congenital Myaesthenic Syndrome_RMH",
"panel_id": 3078,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VAMP1 was added\ngene: VAMP1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VAMP1 were set to presynaptic CMS; Congenital myasthenic syndrome",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:13:50.960061+11:00",
"panel_name": "Congenital Myaesthenic Syndrome_RMH",
"panel_id": 3078,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UNC13A was added\ngene: UNC13A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber\nMode of inheritance for gene: UNC13A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UNC13A were set to 19558619; 27648472\nPhenotypes for gene: UNC13A were set to microcephaly, cortical hyperexcitability, and fatal myasthenia",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:13:50.882281+11:00",
"panel_name": "Congenital Myaesthenic Syndrome_RMH",
"panel_id": 3078,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SYT2 was added\ngene: SYT2 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic, 616040",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:13:50.808308+11:00",
"panel_name": "Congenital Myaesthenic Syndrome_RMH",
"panel_id": 3078,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SNAP25 was added\ngene: SNAP25 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18, 616330",
"entity_name": "SNAP25",
"entity_type": "gene"
}
]
}