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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2024",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2022",
"results": [
{
"created": "2019-12-30T17:37:25.103217+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0586 were changed from Hydrolethalus; short rib polydactyly to Hydrolethalus; short rib polydactyly",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:37:02.165842+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA0586 were set to 26166481",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:36:39.769489+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0586 were changed from Hydrolethalus to Hydrolethalus; short rib polydactyly",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:36:17.560325+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA0586 were set to KIAA0586",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:35:37.103305+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIAA0586 as Red List (low evidence)",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:35:37.097968+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Only one individual with hydrops from a series of 8; emerging gene, phenotype yet to be delineated.",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:35:37.057053+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0586 has been classified as Red List (Low Evidence).",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:31:06.146062+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.73",
"user_name": "George McGillivray",
"item_type": "entity",
"text": "gene: KMT2D was added\ngene: KMT2D was added to Hydrops fetalis_VCGS. Sources: Expert list\nMode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2D were set to 30293990; 27568880; 15690368\nPhenotypes for gene: KMT2D were set to Kabuki syndrome\nReview for gene: KMT2D was set to GREEN\nAdded comment: In the first two publications there are two patients, one in each, with truncating mutations in KTM2D and hydrops fetalis. In the third paper, the prevalence of hydrops fetalis was 3/20 in patients with a clinical diagnosis pre-KTM2D. \nSources: Expert list",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:26.306524+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WARS2 was added\ngene: WARS2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:26.218062+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VPS11 was added\ngene: VPS11 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, MIM#616683",
"entity_name": "VPS11",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:26.131343+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TYMP was added\ngene: TYMP was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type); Mitochondrial Leukoencephalopathy",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:26.037207+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TUFM was added\ngene: TUFM was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TUFM were set to Mitochondrial Leukoencephalopathy",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:25.925470+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TACO1 was added\ngene: TACO1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TACO1 were set to Mitochondrial Leukoencephalopathy",
"entity_name": "TACO1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:25.841301+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SURF1 was added\ngene: SURF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SURF1 were set to Leigh syndrome, due to COX IV deficiency; Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorder",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:25.759702+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SUMF1 was added\ngene: SUMF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUMF1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Multiple sulfatase deficiency",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:25.677078+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SUCLA2 was added\ngene: SUCLA2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\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; Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:25.595400+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SOX10 was added\ngene: SOX10 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SOX10 were set to peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy; PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; General Leukodystrophy & Mitochondrial Leukoencephalopathy",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:25.514219+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC25A4 was added\ngene: SLC25A4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SLC25A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A4 were set to Mitochondrial Leukoencephalopathy",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:25.429630+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC25A12 was added\ngene: SLC25A12 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A12 were set to Hypomyelination, global cerebral 612949",
"entity_name": "SLC25A12",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:25.263142+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC16A2 was added\ngene: SLC16A2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SLC16A2 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: SLC16A2 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Allan-Herndon-Dudley syndrome; Monocarboxylate transporter 8 deficiency (MCT8); Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:25.176208+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SDHB was added\ngene: SDHB was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDHB were set to Succinate dehydrogenase-deficient leukoencephalopathy; Mitochondrial Leukoencephalopathy; complex II deficiency",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:25.084316+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SDHAF1 was added\ngene: SDHAF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDHAF1 were set to Mitochondrial complex II deficiency 252011",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:24.963577+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SDHA was added\ngene: SDHA was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDHA were set to Mitochondrial respiratory chain complex II deficiency, MIM#252011",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:24.883130+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SCP2 was added\ngene: SCP2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy 613724",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:24.786056+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SCO2 was added\ngene: SCO2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:24.701261+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SCO1 was added\ngene: SCO1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency 220110",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:24.617376+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RRM2B was added\ngene: RRM2B was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RRM2B was set to 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",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:24.533715+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RARS was added\ngene: RARS was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9 616140",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:24.450749+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PYCR2 was added\ngene: PYCR2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYCR2 were set to Leukodystrophy, hypomyelinating, 10 616420",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:24.212186+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PC was added\ngene: PC was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PC were set to Pyruvate carboxylase deficiency, MIM#266150",
"entity_name": "PC",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:24.131772+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NUBPL was added\ngene: NUBPL was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency; Mitochondrial Leukoencephalopathy",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:23.982740+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NKX6-2 was added\ngene: NKX6-2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\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": "2019-12-30T17:15:23.899469+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NFU1 was added\ngene: NFU1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFU1 were set to 29441221\nPhenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, MIM#605711",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:23.821673+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NDUFV1 was added\ngene: NDUFV1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFV1 were set to Mitochondrial Leukoencephalopathy",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:23.742479+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NDUFS8 was added\ngene: NDUFS8 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS8 were set to Mitochondrial complex I disorders; Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial Leukoencephalopathy",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:23.659772+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NDUFS7 was added\ngene: NDUFS7 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS7 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial respiratory chain complex I deficiency; Leigh syndrome; Genetic leukoencephalopathies: mitochondrial disorders; Mitochondrial Leukoencephalopathy",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:23.581537+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NDUFS4 was added\ngene: NDUFS4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency; Mitochondrial complex I disorders; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; Mitochondrial Leukoencephalopathy",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:23.498271+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NDUFS2 was added\ngene: NDUFS2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS2 were set to Mitochondrial complex I disorders; Leigh syndrome; Mitochondrial Leukoencephalopathy; Leigh syndrome associated with mitochondrial complex I deficiency",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:23.419565+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NDUFS1 was added\ngene: NDUFS1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial complex I disorders; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; Mitochondrial Leukoencephalopathy",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:23.341243+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NDUFAF3 was added\ngene: NDUFAF3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency 252010",
"entity_name": "NDUFAF3",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:23.250896+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NDUFAF1 was added\ngene: NDUFAF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFAF1 were set to Mitochondrial Leukoencephalopathy",
"entity_name": "NDUFAF1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:23.173125+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NAXE was added\ngene: NAXE was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186",
"entity_name": "NAXE",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:23.095474+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MTFMT was added\ngene: MTFMT was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15; 22499348; 23499752; 614947",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:22.938393+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LYRM7 was added\ngene: LYRM7 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LYRM7 were set to 615838; Mitochondrial complex III deficiency, nuclear type 8; leukoencephalopathy and complex III deficiency; severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:22.859938+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ISCA2 was added\ngene: ISCA2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, 616370",
"entity_name": "ISCA2",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:22.783579+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IFIH1 was added\ngene: IFIH1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: IFIH1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome 7",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:22.706176+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IBA57 was added\ngene: IBA57 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, 615330",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:22.629577+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HSPD1 was added\ngene: HSPD1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HSPD1 was set to \nPhenotypes for gene: HSPD1 were set to Spastic paraplegia 13, autosomal dominant, 605280; Leukodystrophy, hypomyelinating, 4, 612233",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:22.552289+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HSD17B4 was added\ngene: HSD17B4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD17B4 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Peroxisome-Associated Disorders & Zellweger Syndrome; D-bifunctional protein deficiency",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:22.474275+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HIKESHI was added\ngene: HIKESHI was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, MIM#616881",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:22.398461+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GFM1 was added\ngene: GFM1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1; Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:22.310461+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FUCA1 was added\ngene: FUCA1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FUCA1 were set to Fucosidosis; General Leukodystrophy & Mitochondrial Leukoencephalopathy",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:22.234081+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FOLR1 was added\ngene: FOLR1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency 613068",
"entity_name": "FOLR1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:22.155449+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FAM126A was added\ngene: FAM126A was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM126A were set to Hypomyelination and Congenital Cataract; Leukodystrophy, hypomyelinating, 5, 610532",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:22.076728+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FA2H was added\ngene: FA2H was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, MIM#612319",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:21.981346+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ETFDH was added\ngene: ETFDH was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFDH were set to Mitochondrial Leukoencephalopathy; Glutaric Acidemia IIC",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:21.881683+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC8 was added\ngene: ERCC8 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC8 were set to Cockayne Syndrome; UV-sensitive syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:21.807238+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC6 was added\ngene: ERCC6 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC6 were set to Cockayne syndrome; UV-sensitive syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:21.731754+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DPYD was added\ngene: DPYD was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency 274270; 5-fluorouracil toxicity 274270",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:21.656154+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DGUOK was added\ngene: DGUOK was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGUOK were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 3",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:21.581004+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: D2HGDH was added\ngene: D2HGDH was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: D2HGDH were set to L2-Hydroxyglutaric aciduria",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:21.506555+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COX15 was added\ngene: COX15 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX15 were set to Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorders",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:21.432217+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COX10 was added\ngene: COX10 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX10 were set to Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorder",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:21.356030+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COQ2 was added\ngene: COQ2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ2 were set to Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Coenzyme Q10 deficiency, primary, 1",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:21.281775+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CNTNAP1 was added\ngene: CNTNAP1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, MIM#618186",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:21.206203+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLPP was added\ngene: CLPP was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLPP were set to 27899912\nPhenotypes for gene: CLPP were set to Perrault syndrome 3, MIM#614129",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:21.130459+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CIC was added\ngene: CIC was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CIC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CIC were set to Mental retardation, autosomal dominant 45 617600",
"entity_name": "CIC",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:20.988075+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BOLA3 was added\ngene: BOLA3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM#614299",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:20.914573+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BCS1L was added\ngene: BCS1L was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCS1L were set to Mitochondrial complex III disorders; Mitochondrial Leukoencephalopathy",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:20.761882+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AIMP1 was added\ngene: AIMP1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3 260600",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:20.686574+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AIFM1 was added\ngene: AIFM1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: AIFM1 were set to 28842795\nPhenotypes for gene: AIFM1 were set to hypomyelinating leukodystrophy and spondylometaphyseal dysplasia",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:20.611868+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACOX1 was added\ngene: ACOX1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency 264470; General Leukodystrophy & Mitochondrial Leukoencephalopathy",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:20.128026+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM106B was added\ngene: TMEM106B was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TMEM106B were set to Leukodystrophy, hypomyelinating 16, MIM#617964",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:18.755748+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX7 was added\ngene: PEX7 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B, 614879",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:18.680569+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX6 was added\ngene: PEX6 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PEX6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862; Peroxisome biogenesis disorder 4B, 614863",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:18.607035+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX5 was added\ngene: PEX5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger), 214110; Peroxisome biogenesis disorder 2B, 202370",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:18.533581+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX3 was added\ngene: PEX3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger), 614882; ?Peroxisome biogenesis disorder 10B, 617370",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:18.460340+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX26 was added\ngene: PEX26 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger), 614872; Peroxisome biogenesis disorder 7B, 614873",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:18.386259+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX2 was added\ngene: PEX2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5B, 614867; Peroxisome biogenesis disorder 5A (Zellweger) 614866",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:18.312587+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX19 was added\ngene: PEX19 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger), 614886",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:18.238489+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX16 was added\ngene: PEX16 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A (Zellweger), 614876; Peroxisome biogenesis disorder 8B, 614877",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:18.164104+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX14 was added\ngene: PEX14 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger), 614887",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:18.090292+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX13 was added\ngene: PEX13 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11B, 614885; Peroxisome biogenesis disorder 11A (Zellweger), 614883",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:17.945536+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX12 was added\ngene: PEX12 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A, 614859; Peroxisome biogenesis disorder 3B, 266510",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:17.870878+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX11B was added\ngene: PEX11B was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX11B were set to ?Peroxisome biogenesis disorder 14B, 614920",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:17.798622+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX10 was added\ngene: PEX10 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6B, 614871",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:17.725921+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX1 was added\ngene: PEX1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1B (NALD/IRD), 601539",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:17.576508+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OCRL was added\ngene: OCRL was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OCRL were set to Lowe syndrome, 309000",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:17.038586+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KIF5A was added\ngene: KIF5A was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KIF5A were set to Myoclonus, intractable, neonatal, MIM#617235",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:16.890882+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HMGCL was added\ngene: HMGCL was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency, 246450",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:14.036017+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AARS was added\ngene: AARS was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AARS were set to Epileptic encephalopathy, early infantile, 29, MIM#616339",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:15:13.974558+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Leukodystrophy - paediatric_RMH",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-30T17:07:53.954883+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IDUA were changed from Hurler syndrome, MPS 1 to Hurler syndrome, MPS 1",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:07:41.430270+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IDUA as ready",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:07:41.416643+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idua has been classified as Amber List (Moderate Evidence).",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:07:33.192081+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IDUA were changed from to Hurler syndrome, MPS 1",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:07:09.696621+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IDUA were set to ",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:06:44.288727+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IDUA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:06:08.313679+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IDUA as Amber List (moderate evidence)",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:06:08.301158+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idua has been classified as Amber List (Moderate Evidence).",
"entity_name": "IDUA",
"entity_type": "gene"
}
]
}