{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1889","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1887","results":[{"created":"2020-04-01T20:37:40.623323+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1887","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADARB1 as ready","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-04-01T20:37:40.614029+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1887","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adarb1 has been classified as Green List (High Evidence).","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-04-01T20:37:32.507749+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1887","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADARB1 as Green List (high evidence)","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-04-01T20:37:32.492469+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1887","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adarb1 has been classified as Green List (High Evidence).","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-04-01T20:37:29.989377+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2501","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADARB1 as ready","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-04-01T20:37:29.978141+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2501","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adarb1 has been classified as Green List (High Evidence).","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-04-01T20:37:12.018794+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1886","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADARB1 was added\ngene: ADARB1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADARB1 were set to 32220291\nPhenotypes for gene: ADARB1 were set to Intellectual disability; microcephaly; seizures\nReview for gene: ADARB1 was set to GREEN\nAdded comment: Four unrelated individuals with bi-allelic variants in this gene. \nSources: Literature","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-04-01T20:37:00.681759+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2501","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADARB1 as Green List (high evidence)","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-04-01T20:37:00.668893+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2501","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adarb1 has been classified as Green List (High Evidence).","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-04-01T20:36:09.581236+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2500","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADARB1 as Green List (high evidence)","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-04-01T20:36:09.572990+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2500","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adarb1 has been classified as Green List (High Evidence).","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-04-01T20:35:48.928650+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2500","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADARB1 as Green List (high evidence)","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-04-01T20:35:48.904324+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2500","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adarb1 has been classified as Green List (High Evidence).","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-04-01T20:35:26.623840+11:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital","entity_name":null,"entity_type":null},{"created":"2020-04-01T20:35:09.953561+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2499","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADARB1 was added\ngene: ADARB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADARB1 were set to 32220291\nPhenotypes for gene: ADARB1 were set to Intellectual disability; microcephaly; seizures\nReview for gene: ADARB1 was set to GREEN\nAdded comment: Four unrelated individuals with bi-allelic variants in this gene. \nSources: Literature","entity_name":"ADARB1","entity_type":"gene"},{"created":"2020-04-01T20:32:53.497900+11:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: KL as ready","entity_name":"KL","entity_type":"gene"},{"created":"2020-04-01T20:32:53.481955+11:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: kl has been classified as Red List (Low Evidence).","entity_name":"KL","entity_type":"gene"},{"created":"2020-04-01T20:32:48.931485+11:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: KL as Red List (low evidence)","entity_name":"KL","entity_type":"gene"},{"created":"2020-04-01T20:32:48.922920+11:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: kl has been classified as Red List (Low Evidence).","entity_name":"KL","entity_type":"gene"},{"created":"2020-04-01T20:32:17.966026+11:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: KL: Rating: RED; Mode of pathogenicity: None; Publications: 17710231; Phenotypes: ?Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KL","entity_type":"gene"},{"created":"2020-04-01T20:20:40.706040+11:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CYP2R1 as ready","entity_name":"CYP2R1","entity_type":"gene"},{"created":"2020-04-01T20:20:40.697310+11:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cyp2r1 has been classified as Green List (High Evidence).","entity_name":"CYP2R1","entity_type":"gene"},{"created":"2020-04-01T20:20:16.062045+11:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CYP2R1 as Green List (high evidence)","entity_name":"CYP2R1","entity_type":"gene"},{"created":"2020-04-01T20:20:16.053190+11:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cyp2r1 has been classified as Green List (High Evidence).","entity_name":"CYP2R1","entity_type":"gene"},{"created":"2020-04-01T20:19:34.143125+11:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CYP2R1 was added\ngene: CYP2R1 was added to Hypophosphataemic Rickets. Sources: Expert list\nMode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP2R1 were set to 15128933; 28548312\nPhenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation MIM#600081\nReview for gene: CYP2R1 was set to GREEN\ngene: CYP2R1 was marked as current diagnostic\nAdded comment: At least 6 families with biallelic variants. \nSources: Expert list","entity_name":"CYP2R1","entity_type":"gene"},{"created":"2020-04-01T20:16:12.076171+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAGA as ready","entity_name":"NAGA","entity_type":"gene"},{"created":"2020-04-01T20:16:12.063275+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naga has been classified as Green List (High Evidence).","entity_name":"NAGA","entity_type":"gene"},{"created":"2020-04-01T20:16:07.836949+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NAGA as Green List (high evidence)","entity_name":"NAGA","entity_type":"gene"},{"created":"2020-04-01T20:16:07.828008+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naga has been classified as Green List (High Evidence).","entity_name":"NAGA","entity_type":"gene"},{"created":"2020-04-01T20:15:59.465582+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAGA was added\ngene: NAGA was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGA were set to Kanzaki disease, MIM#609242\nReview for gene: NAGA was set to GREEN\nAdded comment: Adult onset diffuse angiokeratoma, sensory-neural hearing loss, recurrent episodes of vertigo, sensory-motor axonal neuropathy. Periventricular white matter abnormalities on MRI. \nSources: NHS GMS","entity_name":"NAGA","entity_type":"gene"},{"created":"2020-04-01T20:00:13.762683+11:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: HARS as ready","entity_name":"HARS","entity_type":"gene"},{"created":"2020-04-01T20:00:13.749371+11:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hars has been classified as Red List (Low Evidence).","entity_name":"HARS","entity_type":"gene"},{"created":"2020-04-01T20:00:06.418470+11:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HARS as Red List (low evidence)","entity_name":"HARS","entity_type":"gene"},{"created":"2020-04-01T20:00:06.405176+11:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hars has been classified as Red List (Low Evidence).","entity_name":"HARS","entity_type":"gene"},{"created":"2020-04-01T19:55:19.004658+11:00","panel_name":"Retinal Disorders","panel_id":3124,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added Panel Retinal Disorders\nSet child panels to: Autosomal Recessive/X-Linked Retinitis Pigmentosa; Macular Dystrophy/Stargardt Disease; Syndromic Retinopathy; Autosomal Dominant Retinitis Pigmentosa; Usher Syndrome; Stickler Syndrome; Vitreoretinopathy; Congenital Stationary Night Blindness_RMH\nSet panel types to: Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-04-01T19:36:18.728470+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IARS2 as ready","entity_name":"IARS2","entity_type":"gene"},{"created":"2020-04-01T19:36:18.715566+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iars2 has been classified as Green List (High Evidence).","entity_name":"IARS2","entity_type":"gene"},{"created":"2020-04-01T19:36:11.264696+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IARS2 as Green List (high evidence)","entity_name":"IARS2","entity_type":"gene"},{"created":"2020-04-01T19:36:11.256241+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iars2 has been classified as Green List (High Evidence).","entity_name":"IARS2","entity_type":"gene"},{"created":"2020-04-01T19:36:02.196605+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IARS2 was added\ngene: IARS2 was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IARS2 were set to 28328135; 30419932; 25130867; 30041933\nPhenotypes for gene: IARS2 were set to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM#\t616007\nReview for gene: IARS2 was set to GREEN\nAdded comment: Sources: NHS GMS","entity_name":"IARS2","entity_type":"gene"},{"created":"2020-04-01T18:37:27.470543+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-04-01T18:33:36.968342+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.35","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: UBQLN4 as Amber List (moderate evidence)","entity_name":"UBQLN4","entity_type":"gene"},{"created":"2020-04-01T18:33:36.957209+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.35","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ubqln4 has been classified as Amber List (Moderate Evidence).","entity_name":"UBQLN4","entity_type":"gene"},{"created":"2020-04-01T18:32:42.738415+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"gene: UBQLN4 was added\ngene: UBQLN4 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: UBQLN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBQLN4 were set to 28463112; 30804504\nPhenotypes for gene: UBQLN4 were set to Amyotrophic lateral sclerosis\nReview for gene: UBQLN4 was set to AMBER\nAdded comment: A single familial case and supporting functional studies and animal model. \nSources: Expert list","entity_name":"UBQLN4","entity_type":"gene"},{"created":"2020-04-01T18:20:20.262705+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1885","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSPB3 as ready","entity_name":"HSPB3","entity_type":"gene"},{"created":"2020-04-01T18:20:20.249333+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1885","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hspb3 has been classified as Red List (Low Evidence).","entity_name":"HSPB3","entity_type":"gene"},{"created":"2020-04-01T18:20:11.648859+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1885","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSPB3 were changed from  to Neuronopathy, distal hereditary motor, type IIC, MIM# 613376","entity_name":"HSPB3","entity_type":"gene"},{"created":"2020-04-01T18:19:28.120850+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1884","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HSPB3 were set to ","entity_name":"HSPB3","entity_type":"gene"},{"created":"2020-04-01T18:19:01.011907+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1883","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HSPB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HSPB3","entity_type":"gene"},{"created":"2020-04-01T18:18:43.143796+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1882","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HSPB3 as Red List (low evidence)","entity_name":"HSPB3","entity_type":"gene"},{"created":"2020-04-01T18:18:43.130557+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1882","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hspb3 has been classified as Red List (Low Evidence).","entity_name":"HSPB3","entity_type":"gene"},{"created":"2020-04-01T18:18:24.994240+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1881","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSPB3: Rating: RED; Mode of pathogenicity: None; Publications: 20142617, 27549087; Phenotypes: Neuronopathy, distal hereditary motor, type IIC, MIM# 613376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HSPB3","entity_type":"gene"},{"created":"2020-04-01T18:02:04.779270+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJC2 as ready","entity_name":"GJC2","entity_type":"gene"},{"created":"2020-04-01T18:02:04.770504+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gjc2 has been classified as Green List (High Evidence).","entity_name":"GJC2","entity_type":"gene"},{"created":"2020-04-01T18:02:01.359052+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GJC2 as Green List (high evidence)","entity_name":"GJC2","entity_type":"gene"},{"created":"2020-04-01T18:02:01.345114+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gjc2 has been classified as Green List (High Evidence).","entity_name":"GJC2","entity_type":"gene"},{"created":"2020-04-01T18:01:52.942155+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GJC2 was added\ngene: GJC2 was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, MIM#\t608804\nReview for gene: GJC2 was set to GREEN\nAdded comment: Demyelinating neuropathy; axonal sensory neuropathy. \nSources: NHS GMS","entity_name":"GJC2","entity_type":"gene"},{"created":"2020-04-01T17:56:38.270025+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FXN as ready","entity_name":"FXN","entity_type":"gene"},{"created":"2020-04-01T17:56:38.261290+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fxn has been classified as Green List (High Evidence).","entity_name":"FXN","entity_type":"gene"},{"created":"2020-04-01T17:56:34.252873+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Tag STR tag was added to gene: FXN.","entity_name":"FXN","entity_type":"gene"},{"created":"2020-04-01T17:56:25.724213+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FXN as Green List (high evidence)","entity_name":"FXN","entity_type":"gene"},{"created":"2020-04-01T17:56:25.715594+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fxn has been classified as Green List (High Evidence).","entity_name":"FXN","entity_type":"gene"},{"created":"2020-04-01T17:56:16.654623+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FXN was added\ngene: FXN was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FXN were set to Friedreich ataxia, MIM#\t229300\nMode of pathogenicity for gene: FXN was set to Other\nReview for gene: FXN was set to GREEN\nAdded comment: Peripheral sensory neuropathy is part of the phenotype. Note only ~2% of cases are due to SNVs, majority due to STRs. \nSources: NHS GMS","entity_name":"FXN","entity_type":"gene"},{"created":"2020-04-01T10:42:13.830928+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.33","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TIA1 as ready","entity_name":"TIA1","entity_type":"gene"},{"created":"2020-04-01T10:42:13.821247+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.33","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tia1 has been classified as Amber List (Moderate Evidence).","entity_name":"TIA1","entity_type":"gene"},{"created":"2020-04-01T10:42:09.101559+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.33","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TIA1 as Amber List (moderate evidence)","entity_name":"TIA1","entity_type":"gene"},{"created":"2020-04-01T10:42:09.088212+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.33","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tia1 has been classified as Amber List (Moderate Evidence).","entity_name":"TIA1","entity_type":"gene"},{"created":"2020-04-01T10:41:27.716159+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TIA1 was added\ngene: TIA1 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: TIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TIA1 were set to 29235362; 29886022; 29773329; 29699721; 29216908; 24659297; 29457785; 28817800\nReview for gene: TIA1 was set to AMBER\nAdded comment: >3 cases with ALS and functional studies, but no true replication study \nSources: Expert list","entity_name":"TIA1","entity_type":"gene"},{"created":"2020-04-01T10:39:05.625956+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TAF15 as ready","entity_name":"TAF15","entity_type":"gene"},{"created":"2020-04-01T10:39:05.616757+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: taf15 has been classified as Amber List (Moderate Evidence).","entity_name":"TAF15","entity_type":"gene"},{"created":"2020-04-01T10:39:00.799238+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TAF15 as Amber List (moderate evidence)","entity_name":"TAF15","entity_type":"gene"},{"created":"2020-04-01T10:39:00.785871+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: taf15 has been classified as Amber List (Moderate Evidence).","entity_name":"TAF15","entity_type":"gene"},{"created":"2020-04-01T10:37:30.474316+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TAF15 was added\ngene: TAF15 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: TAF15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TAF15 were set to 21438137; 22065782; 27810362; 28889094\nPhenotypes for gene: TAF15 were set to Amyotrophic lateral sclerosis\nReview for gene: TAF15 was set to AMBER\nAdded comment: No family studies, but >3 cases and functional studies. \nSources: Expert list","entity_name":"TAF15","entity_type":"gene"},{"created":"2020-04-01T10:26:48.558787+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"UBA1","entity_type":"gene"},{"created":"2020-04-01T10:26:19.265250+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SS18L1 as ready","entity_name":"SS18L1","entity_type":"gene"},{"created":"2020-04-01T10:26:19.250918+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ss18l1 has been classified as Green List (High Evidence).","entity_name":"SS18L1","entity_type":"gene"},{"created":"2020-04-01T10:26:13.835954+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SS18L1 as Green List (high evidence)","entity_name":"SS18L1","entity_type":"gene"},{"created":"2020-04-01T10:26:13.826566+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ss18l1 has been classified as Green List (High Evidence).","entity_name":"SS18L1","entity_type":"gene"},{"created":"2020-04-01T10:25:40.953944+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"TRIP4","entity_type":"gene"},{"created":"2020-04-01T10:25:25.712935+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SS18L1 was added\ngene: SS18L1 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: SS18L1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SS18L1 were set to 25888396; 24360741; 23708140; 30976389\nPhenotypes for gene: SS18L1 were set to amyotrophic lateral sclerosis\nReview for gene: SS18L1 was set to GREEN\nAdded comment: >3 cases with heterozygote variants (de novo status confirmed or expected), and supporting functional evidence. \nSources: Expert list","entity_name":"SS18L1","entity_type":"gene"},{"created":"2020-03-31T20:39:24.847844+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1881","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBXO38 as ready","entity_name":"FBXO38","entity_type":"gene"},{"created":"2020-03-31T20:39:24.839237+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1881","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbxo38 has been classified as Amber List (Moderate Evidence).","entity_name":"FBXO38","entity_type":"gene"},{"created":"2020-03-31T20:39:17.294673+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1881","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBXO38 were changed from  to Neuropathy, distal hereditary motor, type IID, 615575; dHMN/dSMA","entity_name":"FBXO38","entity_type":"gene"},{"created":"2020-03-31T20:38:49.290012+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1880","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FBXO38 were set to ","entity_name":"FBXO38","entity_type":"gene"},{"created":"2020-03-31T20:38:29.943900+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1879","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FBXO38 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FBXO38","entity_type":"gene"},{"created":"2020-03-31T20:38:11.430895+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1878","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FBXO38 as Amber List (moderate evidence)","entity_name":"FBXO38","entity_type":"gene"},{"created":"2020-03-31T20:38:11.417654+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1878","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbxo38 has been classified as Amber List (Moderate Evidence).","entity_name":"FBXO38","entity_type":"gene"},{"created":"2020-03-31T20:37:53.588099+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1877","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FBXO38: Rating: AMBER; Mode of pathogenicity: None; Publications: 24207122, 31420593; Phenotypes: Neuronopathy, distal hereditary motor, type IID, 615575, dHMN/dSMA; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FBXO38","entity_type":"gene"},{"created":"2020-03-31T20:27:25.169682+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAH as ready","entity_name":"FAH","entity_type":"gene"},{"created":"2020-03-31T20:27:25.161085+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fah has been classified as Green List (High Evidence).","entity_name":"FAH","entity_type":"gene"},{"created":"2020-03-31T20:27:16.224893+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAH as Green List (high evidence)","entity_name":"FAH","entity_type":"gene"},{"created":"2020-03-31T20:27:16.212052+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fah has been classified as Green List (High Evidence).","entity_name":"FAH","entity_type":"gene"},{"created":"2020-03-31T20:27:07.811740+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAH was added\ngene: FAH was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAH were set to Tyrosinemia, type I, MIM#\t276700\nReview for gene: FAH was set to GREEN\nAdded comment: Episodic peripheral neuropathy. \nSources: NHS GMS","entity_name":"FAH","entity_type":"gene"},{"created":"2020-03-31T20:13:09.858322+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PRPH as Amber List (moderate evidence)","entity_name":"PRPH","entity_type":"gene"},{"created":"2020-03-31T20:13:09.849645+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: prph has been classified as Amber List (Moderate Evidence).","entity_name":"PRPH","entity_type":"gene"},{"created":"2020-03-31T20:12:40.010620+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Reported in OMIM as an ALS susceptibility loci. Two heterozygous cases and a homozygous case reported, with some supporting evidence in a mouse model.\r\nSources: Expert list; to: Reported in OMIM as an ALS susceptibility loci. Two heterozygous cases and a homozygous case (Asp141Tyr) reported that doesn't appear to have more severe disease. The Asp141Tyr missense NFE AF in gnomAD is 0.005730, which is on the high side. There is also some supporting evidence in a mouse model.\r\nSources: Expert list","entity_name":"PRPH","entity_type":"gene"},{"created":"2020-03-31T20:10:47.460187+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: ALS susceptibility loci \nSources: Expert list; to: Reported in OMIM as an ALS susceptibility loci. Two heterozygous cases and a homozygous case reported, with some supporting evidence in a mouse model.\r\nSources: Expert list","entity_name":"PRPH","entity_type":"gene"},{"created":"2020-03-31T20:09:37.203575+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: PRPH: Changed publications: 20363051, 15322088, 15446584","entity_name":"PRPH","entity_type":"gene"},{"created":"2020-03-31T20:08:05.049592+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1877","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DRP2 as ready","entity_name":"DRP2","entity_type":"gene"},{"created":"2020-03-31T20:08:05.040858+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1877","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: drp2 has been classified as Green List (High Evidence).","entity_name":"DRP2","entity_type":"gene"}]}