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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=466",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=464",
"results": [
{
"created": "2024-04-23T14:53:54.414565+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PACSIN3 was added\ngene: PACSIN3 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Literature\nMode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PACSIN3 were set to 38637313\nPhenotypes for gene: PACSIN3 were set to Myopathy, MONDO:0005336, PACSIN3-related\nReview for gene: PACSIN3 was set to AMBER\nAdded comment: Two unrelated families with LoF variants, one homozygous. Muscle phenotype including raised CK. Supportive mouse model. \nSources: Literature",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2024-04-23T14:53:32.693009+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PACSIN3 as ready",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2024-04-23T14:53:32.680297+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacsin3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2024-04-23T14:52:48.709909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PACSIN3 as Amber List (moderate evidence)",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2024-04-23T14:52:48.698777+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacsin3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2024-04-23T14:52:02.558657+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PACSIN3 was added\ngene: PACSIN3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PACSIN3 were set to 38637313\nPhenotypes for gene: PACSIN3 were set to Myopathy, MONDO:0005336, PACSIN3-related\nReview for gene: PACSIN3 was set to AMBER\nAdded comment: Two unrelated families with LoF variants, one homozygous. Muscle phenotype including raised CK. Supportive mouse model. \nSources: Literature",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2024-04-23T14:10:42.391694+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PACSIN3 as ready",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2024-04-23T14:10:42.380815+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacsin3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2024-04-23T14:10:33.566196+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PACSIN3 as Amber List (moderate evidence)",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2024-04-23T14:10:33.555055+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacsin3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2024-04-23T14:09:43.339241+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PACSIN3 was added\ngene: PACSIN3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PACSIN3 were set to 38637313\nPhenotypes for gene: PACSIN3 were set to Myopathy, MONDO:0005336, PACSIN3-related\nReview for gene: PACSIN3 was set to AMBER\nAdded comment: Two unrelated families with LoF variants, one homozygous. Muscle phenotype including raised CK. Supportive mouse model. \nSources: Literature",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:41:09.029294+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association, XLD.; to: Well established gene-disease association, XLD.",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2024-04-23T12:55:55.646913+10:00",
"panel_name": "Metabolic Disorders Superpanel",
"panel_id": 3465,
"panel_version": "8.132",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Miscellaneous Metabolic Disorders; Congenital Disorders of Glycosylation; Calcium and Phosphate disorders; Fatty Acid Oxidation Defects; Hypertension and Aldosterone disorders; Lysosomal Storage Disorder; Neurotransmitter Defects; Disorders of branched chain amino acid metabolism; Glycogen Storage Diseases; Rhabdomyolysis and Metabolic Myopathy; Inherited vitamin B12 or cobalamin deficiency; Mitochondrial disease; Peroxisomal Disorders; Monogenic Diabetes; Iron metabolism disorders; Dyslipidaemia; Vitamin C Pathway Disorders; Porphyria; Hyperammonaemia",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-23T06:56:51.915442+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Emerging evidence that de novo variants in this gene cause ID. \nSources: Literature; to: Over 100 individuals with ID found to have de novo variants in this gene. Please note difficult to identify on ES.\r\nSources: Literature",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-04-23T06:56:30.286528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Emerging evidence that de novo variants in this gene cause ID. \nSources: Literature; to: Over 100 individuals with ID found to have de novo variants in this gene. Please note difficult to identify on ES. \r\nSources: Literature",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-04-23T06:54:38.082932+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU4-2 were set to ",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-04-23T06:54:19.496489+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU4-2: Changed publications: 38645094",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-04-23T06:54:03.189845+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU4-2 were set to ",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-04-23T06:53:26.706716+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU4-2: Changed publications: 38645094",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-04-22T14:49:51.212424+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAB21L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar, ocular, craniofacial, and genital syndrome MIM#618479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAB21L1",
"entity_type": "gene"
},
{
"created": "2024-04-22T14:22:11.544932+10:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.110",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19500388, 23688511; Phenotypes: Hypophosphatasia, adult 146300 (AD, AR), Hypophosphatasia, childhood 241510 AR, Hypophosphatasia, infantile 241500 AR, Odontohypophosphatasia 146300 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2024-04-22T13:52:09.539723+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2599",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SLC12A5: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006147; Phenotypes: developmental and epileptic encephalopathy MONDO:0100062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2024-04-22T13:37:17.671046+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2599",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SERPINI1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006114; Phenotypes: progressive myoclonus epilepsy MONDO:0020074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SERPINI1",
"entity_type": "gene"
},
{
"created": "2024-04-22T12:59:45.090225+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2599",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19710327, 28218389, 23148524; Phenotypes: Developmental and epileptic encephalopathy (MONDO:0100062), generalized epilepsy with febrile seizures plus (MONDO:0018214); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2024-04-22T11:39:01.708326+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2599",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SCN1A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: generalized epilepsy with febrile seizures plus (MONDO:0018214), Dravet syndrome (MONDO:0100135), developmental and epileptic encephalopathy (MONDO:0100062), familial hemiplegic migraine (MONDO:0000700); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2024-04-22T11:26:43.415095+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2599",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: RORB: Rating: ; Mode of pathogenicity: None; Publications: 27352968; Phenotypes: epilepsy MONDO:0005027; Mode of inheritance: None",
"entity_name": "RORB",
"entity_type": "gene"
},
{
"created": "2024-04-22T10:58:02.256975+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2599",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NECAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24399846, 30626896; Phenotypes: developmental and epileptic encephalopathy MONDO:0100062; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NECAP1",
"entity_type": "gene"
},
{
"created": "2024-04-22T10:39:02.525862+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2599",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 23086397, 26725113; Phenotypes: childhood-onset epilepsy syndrome MONDO:0020072; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2024-04-22T09:37:57.775288+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2599",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: EFHC1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31056551, https://search.clinicalgenome.org/CCID:004730; Phenotypes: epilepsy MONDO:0005027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2024-04-21T15:04:14.088659+10:00",
"panel_name": "Progressive Neurological Conditions",
"panel_id": 3377,
"panel_version": "16.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Early-onset Parkinson disease; Brain Calcification; Hereditary Spastic Paraplegia - paediatric; Hereditary Neuropathy_CMT - isolated; Congenital Disorders of Glycosylation; Miscellaneous Metabolic Disorders; Dystonia - isolated/combined; Limb-Girdle Muscular Dystrophy and Distal Myopathy; Motor Neurone Disease; Ataxia - paediatric; Fatty Acid Oxidation Defects; Early-onset Dementia; Hereditary Neuropathy - complex; Lysosomal Storage Disorder; Ataxia - adult onset; Hereditary Spastic Paraplegia - adult onset; Neurotransmitter Defects; Brain Channelopathies; Glycogen Storage Diseases; Rhabdomyolysis and Metabolic Myopathy; Genetic Epilepsy; Mitochondrial disease; Leukodystrophy - paediatric; Dystonia - complex; Leukodystrophy - adult onset; Peroxisomal Disorders; Cerebral vascular malformations; Iron metabolism disorders; Neurodegeneration with brain iron accumulation; Pain syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-21T14:59:25.565875+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-21T14:58:46.090185+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-21T14:58:10.234032+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.347",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: WDR45 as ready",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:58:10.225613+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.347",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: wdr45 has been classified as Green List (High Evidence).",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:57:56.607039+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.347",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: WDR45 were changed from to X-linked complex neurodevelopmental disorder MONDO:0100148",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:56:53.042987+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.346",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: WDR45 were set to ",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:55:19.998485+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.345",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR45 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:52:53.623334+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.344",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: VPS13A as ready",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:52:53.614919+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.344",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: vps13a has been classified as Green List (High Evidence).",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:52:50.210952+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.344",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: VPS13A were changed from to chorea-acanthocytosis MONDO:0008695",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:51:37.241774+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.343",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: VPS13A were set to ",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:50:55.702057+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.342",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS13A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:49:20.178840+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.341",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:48:42.905790+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.340",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TUBB4A as ready",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:48:42.895023+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.340",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tubb4a has been classified as Red List (Low Evidence).",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:15:16.377231+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.340",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TUBB4A as Red List (low evidence)",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:15:16.372112+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.340",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: More suitable for the dystonia panel",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:15:16.333970+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.340",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tubb4a has been classified as Red List (Low Evidence).",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:08:27.646276+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.339",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TH as ready",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:08:27.637741+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.339",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: th has been classified as Green List (High Evidence).",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:08:19.954383+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: OPTN as ready",
"entity_name": "OPTN",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:08:19.940634+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: optn has been classified as Green List (High Evidence).",
"entity_name": "OPTN",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:08:12.460171+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: OPTN were changed from to Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MONDO: 0013264, MIM#613435)",
"entity_name": "OPTN",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:07:24.628515+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.339",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: TH were changed from to Tyrosine hydroxylase deficiency MONDO:0100064",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:06:57.643231+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: OPTN were set to ",
"entity_name": "OPTN",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:06:40.643935+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.338",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TH were set to 20301334; 20301610",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:06:25.589904+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPTN was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "OPTN",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:05:45.324616+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.337",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TH were set to ",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:05:10.190715+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPTN was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "OPTN",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:04:09.220200+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.336",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: TH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:02:26.528699+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.335",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SPR as ready",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:02:26.514327+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.335",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spr has been classified as Green List (High Evidence).",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:02:12.813975+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.335",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: SPR were changed from to Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-04-21T14:00:10.812691+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.334",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SPR were set to ",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:58:56.343671+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.333",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:49:52.576392+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.332",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC30A10 as ready",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:49:52.565163+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.332",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc30a10 has been classified as Green List (High Evidence).",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:49:28.004182+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.332",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC30A10 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:49:18.737548+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBQLN2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:48:57.789703+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.332",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC30A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:48:34.558705+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBQLN2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:47:35.679479+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.331",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SLC30A10 were set to ",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:44:55.105381+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.330",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: SLC30A10 were changed from to cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0013208",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:42:39.273092+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.329",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SPG11 as ready",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:42:39.259919+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.329",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spg11 has been classified as Green List (High Evidence).",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:42:29.205245+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.329",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:41:23.186326+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.328",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SPG11 were set to ",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:40:53.634777+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.328",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: SPG11 were changed from hereditary spastic paraplegia 11 MONDO:0011445 to hereditary spastic paraplegia 11 MONDO:0011445",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:40:24.554031+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.327",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: SPG11 were changed from hereditary spastic paraplegia 11 MONDO:0011445 to hereditary spastic paraplegia 11 MONDO:0011445",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:39:55.135639+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.327",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: SPG11 were changed from to hereditary spastic paraplegia 11 MONDO:0011445",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:39:36.757618+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.326",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RAB39B as ready",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:39:36.735485+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.326",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rab39b has been classified as Green List (High Evidence).",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:39:20.835042+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.326",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB39B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:37:55.579931+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.325",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: RAB39B were set to ",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:36:40.642516+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.324",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: RAB39B were changed from to Early-onset parkinsonism-intellectual disability syndrome MONDO:0010709",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:32:29.605593+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NEFH as ready",
"entity_name": "NEFH",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:32:29.579597+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nefh has been classified as Red List (Low Evidence).",
"entity_name": "NEFH",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:32:10.265424+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.323",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PSEN1 as ready",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:32:10.256326+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.323",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: psen1 has been classified as Green List (High Evidence).",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:31:44.975524+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.323",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSEN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:31:08.428669+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.322",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSEN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:30:57.291904+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NEFH was added\ngene: NEFH was added to Motor Neurone Disease. Sources: ClinGen\nMode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NEFH were set to amyotrophic lateral sclerosis MONDO:0004976\nReview for gene: NEFH was set to RED\nAdded comment: Limited gene-disease validity classification by ClinGen ALS spectrum disorders GCEP - 23/03/2023\r\nhttps://search.clinicalgenome.org/CCID:005612 \nSources: ClinGen",
"entity_name": "NEFH",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:05:48.347988+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.321",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PSEN1 were set to ",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:05:02.206278+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.320",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: PSEN1 were changed from to Alzheimer disease 3 MONDO:0011913",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:01:50.217434+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.319",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PRKN as ready",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2024-04-21T13:01:50.206631+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.319",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prkn has been classified as Green List (High Evidence).",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2024-04-21T12:54:23.128445+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.319",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: PRKN were changed from to autosomal recessive juvenile Parkinson disease 2 MONDO:0010820",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2024-04-21T12:53:46.755623+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.318",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2024-04-21T10:47:55.424441+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.317",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PARK7 as ready",
"entity_name": "PARK7",
"entity_type": "gene"
},
{
"created": "2024-04-21T10:47:55.411880+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.317",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: park7 has been classified as Green List (High Evidence).",
"entity_name": "PARK7",
"entity_type": "gene"
}
]
}