{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2024","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&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"}]}