{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=252","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=250","results":[{"created":"2025-04-25T15:08:09.381641+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.274","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: ARX_EIEE1_GCN1 as Green List (high evidence)","entity_name":"ARX_EIEE1_GCN1","entity_type":"str"},{"created":"2025-04-25T15:08:09.374991+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.274","user_name":"Bryony Thompson","item_type":"entity","text":"Str: arx_eiee1_gcn1 has been classified as Green List (High Evidence).","entity_name":"ARX_EIEE1_GCN1","entity_type":"str"},{"created":"2025-04-25T15:08:05.205090+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.104","user_name":"Bryony Thompson","item_type":"entity","text":"STR: ARX_EIEE1_GCN1 was added\nSTR: ARX_EIEE1_GCN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for STR: ARX_EIEE1_GCN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: ARX_EIEE1_GCN1 were set to 11889467; 33811808\nPhenotypes for STR: ARX_EIEE1_GCN1 were set to Developmental and epileptic encephalopathy 1 MIM#308350; Intellectual disability, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510\nReview for STR: ARX_EIEE1_GCN1 was set to GREEN\nSTR: ARX_EIEE1_GCN1 was marked as clinically relevant\nSTR: ARX_EIEE1_GCN1 was marked as current diagnostic\nAdded comment: NM_139058.3(ARX):c.306GGC[X]\r\nMechanism of disease is polyAlanine tract associated with dominant-negative effect\r\nPolyAla tract 1 of 2 polyAla tracts associated with disease\r\nNormal repeat number: 16\r\nPathogenic repeat number: 23 \nSources: Expert list","entity_name":"ARX_EIEE1_GCN1","entity_type":"str"},{"created":"2025-04-25T15:08:00.477940+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.128","user_name":"Bryony Thompson","item_type":"entity","text":"STR: ARX_EIEE1_GCN1 was added\nSTR: ARX_EIEE1_GCN1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for STR: ARX_EIEE1_GCN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: ARX_EIEE1_GCN1 were set to 11889467; 33811808\nPhenotypes for STR: ARX_EIEE1_GCN1 were set to Developmental and epileptic encephalopathy 1 MIM#308350; Intellectual disability, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510\nReview for STR: ARX_EIEE1_GCN1 was set to GREEN\nSTR: ARX_EIEE1_GCN1 was marked as clinically relevant\nSTR: ARX_EIEE1_GCN1 was marked as current diagnostic\nAdded comment: NM_139058.3(ARX):c.306GGC[X]\r\nMechanism of disease is polyAlanine tract associated with dominant-negative effect\r\nPolyAla tract 1 of 2 polyAla tracts associated with disease\r\nNormal repeat number: 16\r\nPathogenic repeat number: 23 \nSources: Expert list","entity_name":"ARX_EIEE1_GCN1","entity_type":"str"},{"created":"2025-04-25T15:07:38.037923+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.273","user_name":"Bryony Thompson","item_type":"entity","text":"STR: ARX_EIEE1_GCN1 was added\nSTR: ARX_EIEE1_GCN1 was added to Dystonia - complex. Sources: Expert Review\nMode of inheritance for STR: ARX_EIEE1_GCN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: ARX_EIEE1_GCN1 were set to 11889467; 33811808\nPhenotypes for STR: ARX_EIEE1_GCN1 were set to Developmental and epileptic encephalopathy 1 MIM#308350; Intellectual disability, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510\nReview for STR: ARX_EIEE1_GCN1 was set to GREEN\nSTR: ARX_EIEE1_GCN1 was marked as clinically relevant\nSTR: ARX_EIEE1_GCN1 was marked as current diagnostic\nAdded comment: NM_139058.3(ARX):c.306GGC[X]\r\nMechanism of disease is polyAlanine tract associated with dominant-negative effect\r\nPolyAla tract 1 of 2 polyAla tracts associated with disease\r\nNormal repeat number: 16\r\nPathogenic repeat number: 23 \nSources: Expert Review","entity_name":"ARX_EIEE1_GCN1","entity_type":"str"},{"created":"2025-04-25T15:01:19.667376+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.272","user_name":"Bryony Thompson","item_type":"entity","text":"Tag STR tag was added to gene: ARX.","entity_name":"ARX","entity_type":"gene"},{"created":"2025-04-25T14:56:40.550054+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.30","user_name":"Bryony Thompson","item_type":"entity","text":"SBMA was changed to AR_SBMA_CAG","entity_name":"AR_SBMA_CAG","entity_type":"str"},{"created":"2025-04-25T14:55:06.514433+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2490","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: AFF2_FRAXE_GCC as ready","entity_name":"AFF2_FRAXE_GCC","entity_type":"str"},{"created":"2025-04-25T14:55:06.508160+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2490","user_name":"Bryony Thompson","item_type":"entity","text":"Str: aff2_fraxe_gcc has been classified as Green List (High Evidence).","entity_name":"AFF2_FRAXE_GCC","entity_type":"str"},{"created":"2025-04-25T14:54:45.241540+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2490","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: AFF2_FRAXE_GCC as Green List (high evidence)","entity_name":"AFF2_FRAXE_GCC","entity_type":"str"},{"created":"2025-04-25T14:54:45.225287+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2490","user_name":"Bryony Thompson","item_type":"entity","text":"Str: aff2_fraxe_gcc has been classified as Green List (High Evidence).","entity_name":"AFF2_FRAXE_GCC","entity_type":"str"},{"created":"2025-04-25T14:54:26.159344+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2489","user_name":"Bryony Thompson","item_type":"entity","text":"STR: AFF2_FRAXE_GCC was added\nSTR: AFF2_FRAXE_GCC was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: AFF2_FRAXE_GCC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: AFF2_FRAXE_GCC were set to 8334699; 8673085; 11388762\nPhenotypes for STR: AFF2_FRAXE_GCC were set to Intellectual developmental disorder, X-linked 109 MIM#309548\nReview for STR: AFF2_FRAXE_GCC was set to GREEN\nSTR: AFF2_FRAXE_GCC was marked as clinically relevant\nSTR: AFF2_FRAXE_GCC was marked as current diagnostic\nAdded comment: NM_001169122.1(AFF2):c.-460_-458GCC(6_25)\r\nLoss of function through methylation silencing is the mechanism of disease\r\nNormal - 5-44 repeats\r\nInconclusive - 45-54 repeats\r\nPremutation - 55-200 repeats\r\nAbnormal - >200 or >230 repeats \nSources: Expert list","entity_name":"AFF2_FRAXE_GCC","entity_type":"str"},{"created":"2025-04-25T14:51:25.650100+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.103","user_name":"Bryony Thompson","item_type":"entity","text":"FRAXE was changed to AFF2_FRAXE_GCC","entity_name":"AFF2_FRAXE_GCC","entity_type":"str"},{"created":"2025-04-25T14:48:52.511180+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2488","user_name":"Bryony Thompson","item_type":"entity","text":"OPDM_ABCD3_GCC was changed to ABCD3_OPDM_GCC","entity_name":"ABCD3_OPDM_GCC","entity_type":"str"},{"created":"2025-04-25T14:48:11.611178+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.46","user_name":"Bryony Thompson","item_type":"entity","text":"OPDM_ABCD3_GCC was changed to ABCD3_OPDM_GCC","entity_name":"ABCD3_OPDM_GCC","entity_type":"str"},{"created":"2025-04-25T13:30:39.141618+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.16","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: PRNP_CJD_octapeptide as ready","entity_name":"PRNP_CJD_octapeptide","entity_type":"str"},{"created":"2025-04-25T13:30:39.132076+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.16","user_name":"Bryony Thompson","item_type":"entity","text":"Str: prnp_cjd_octapeptide has been classified as Green List (High Evidence).","entity_name":"PRNP_CJD_octapeptide","entity_type":"str"},{"created":"2025-04-25T13:25:21.838443+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.16","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: PRNP_CJD_octapeptide as Green List (high evidence)","entity_name":"PRNP_CJD_octapeptide","entity_type":"str"},{"created":"2025-04-25T13:25:21.829116+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.16","user_name":"Bryony Thompson","item_type":"entity","text":"Str: prnp_cjd_octapeptide has been classified as Green List (High Evidence).","entity_name":"PRNP_CJD_octapeptide","entity_type":"str"},{"created":"2025-04-25T13:17:20.777371+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.15","user_name":"Bryony Thompson","item_type":"entity","text":"STR: PRNP_CJD_octapeptide was added\nSTR: PRNP_CJD_octapeptide was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for STR: PRNP_CJD_octapeptide was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: PRNP_CJD_octapeptide were set to 2159587; 20301407\nPhenotypes for STR: PRNP_CJD_octapeptide were set to Creutzfeldt-Jakob disease MIM#123400; Gerstmann-Straussler disease MIM#137440\nReview for STR: PRNP_CJD_octapeptide was set to GREEN\nSTR: PRNP_CJD_octapeptide was marked as clinically relevant\nSTR: PRNP_CJD_octapeptide was marked as current diagnostic\nAdded comment: NM_000311.4(PRNP):c.160GGTGGTGGCTGGGGGCAGCCTCAT[X]\r\nNormal PRNP alleles: 4 octapeptide repeat sequences each of which comprises the following amino acids: Pro-(His/Gln)-Gly-Gly-Gly-(-/Trp)-Gly-Gln. Because the nucleotide sequence encoding the octapeptide may vary, the repeat is described typically as an octapeptide rather than as a 24-nucleotide repeat.\r\nPathogenic: ≥5 octapeptide repeat segments (1 additional), 2-7 additional repeats are typically associated with the fCJD pathologic phenotype, and 8-9 extra repeats are associated with the GSS pathologic phenotype. \nSources: Literature","entity_name":"PRNP_CJD_octapeptide","entity_type":"str"},{"created":"2025-04-25T13:09:25.018778+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.33","user_name":"Bryony Thompson","item_type":"entity","text":"CJD was changed to PRNP_CJD_octapeptide","entity_name":"PRNP_CJD_octapeptide","entity_type":"str"},{"created":"2025-04-25T13:04:27.314642+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.255","user_name":"Bryony Thompson","item_type":"entity","text":"VACTERLX was changed to ZIC3_VACTERLX_GCC","entity_name":"ZIC3_VACTERLX_GCC","entity_type":"str"},{"created":"2025-04-25T13:03:51.684361+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.254","user_name":"Bryony Thompson","item_type":"entity","text":"NUTM2B-AS1_OPML1_CCG was changed to NUTM2B-AS1_OPDM_CCG","entity_name":"NUTM2B-AS1_OPDM_CCG","entity_type":"str"},{"created":"2025-04-25T13:03:32.442633+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.253","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: NUTM2B-AS1_OPML1_CCG as Green List (high evidence)","entity_name":"NUTM2B-AS1_OPML1_CCG","entity_type":"str"},{"created":"2025-04-25T13:03:32.436057+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.253","user_name":"Bryony Thompson","item_type":"entity","text":"Str: nutm2b-as1_opml1_ccg has been classified as Green List (High Evidence).","entity_name":"NUTM2B-AS1_OPML1_CCG","entity_type":"str"},{"created":"2025-04-25T13:03:23.260897+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.252","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of STR: NUTM2B-AS1_OPML1_CCG: Added comment: At least 10 new families/probands have been reported with the repeat expansion. These individuals had an OPDM phenotype, mostly without white matter changes.; Changed rating: GREEN; Changed publications: 31332380, 37923380, 39308795, 38159879; Changed phenotypes: Oculopharyngodistal myopathy MONDO:0025193; Set clinically relevant: yes","entity_name":"NUTM2B-AS1_OPML1_CCG","entity_type":"str"},{"created":"2025-04-25T12:35:26.107350+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.252","user_name":"Bryony Thompson","item_type":"entity","text":"OPML1 was changed to NUTM2B-AS1_OPML1_CCG","entity_name":"NUTM2B-AS1_OPML1_CCG","entity_type":"str"},{"created":"2025-04-25T12:33:50.599694+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.251","user_name":"Bryony Thompson","item_type":"entity","text":"NIPA1 was changed to NIPA1_ALS_GCG","entity_name":"NIPA1_ALS_GCG","entity_type":"str"},{"created":"2025-04-25T12:33:14.201272+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.250","user_name":"Bryony Thompson","item_type":"entity","text":"FRAXF was changed to TMEM185A_FRAXF_GCC","entity_name":"TMEM185A_FRAXF_GCC","entity_type":"str"},{"created":"2025-04-25T12:32:42.339363+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.249","user_name":"Bryony Thompson","item_type":"entity","text":"FRA11B was changed to CBL_FRA11B_CCG","entity_name":"CBL_FRA11B_CCG","entity_type":"str"},{"created":"2025-04-25T12:32:17.230661+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.248","user_name":"Bryony Thompson","item_type":"entity","text":"FRA11A was changed to C11orf80_FRA11A_CGG","entity_name":"C11orf80_FRA11A_CGG","entity_type":"str"},{"created":"2025-04-25T12:31:43.675634+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.247","user_name":"Bryony Thompson","item_type":"entity","text":"FAME6 was changed to TNRC6A_FAME6_TTTCA","entity_name":"TNRC6A_FAME6_TTTCA","entity_type":"str"},{"created":"2025-04-25T12:27:52.372431+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.246","user_name":"Bryony Thompson","item_type":"entity","text":"FAME4 was changed to YEATS2_FAME4_TTTCA","entity_name":"YEATS2_FAME4_TTTCA","entity_type":"str"},{"created":"2025-04-25T12:24:30.069963+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.245","user_name":"Bryony Thompson","item_type":"entity","text":"FAME1_TTTGA was changed to SAMD12_FAME1_TTTGA","entity_name":"SAMD12_FAME1_TTTGA","entity_type":"str"},{"created":"2025-04-25T12:23:28.715534+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.244","user_name":"Bryony Thompson","item_type":"entity","text":"SCA_THAP11_CAG was changed to THAP11_SCA_CAG","entity_name":"THAP11_SCA_CAG","entity_type":"str"},{"created":"2025-04-25T12:20:55.444767+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.243","user_name":"Bryony Thompson","item_type":"entity","text":"FRA7A was changed to ZNF713_FRA7A_CGG","entity_name":"ZNF713_FRA7A_CGG","entity_type":"str"},{"created":"2025-04-25T12:20:16.005995+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.242","user_name":"Bryony Thompson","item_type":"entity","text":"FRA2A was changed to AFF3_FRA2A_CGG","entity_name":"AFF3_FRA2A_CGG","entity_type":"str"},{"created":"2025-04-25T12:19:46.152828+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.241","user_name":"Bryony Thompson","item_type":"entity","text":"FRA12A was changed to DIP2B_FRA12A_CGG","entity_name":"DIP2B_FRA12A_CGG","entity_type":"str"},{"created":"2025-04-25T12:15:52.354711+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.240","user_name":"Bryony Thompson","item_type":"entity","text":"FAME7 was changed to RAPGEF2_FAME7_TTTCA","entity_name":"RAPGEF2_FAME7_TTTCA","entity_type":"str"},{"created":"2025-04-25T12:14:48.463684+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.239","user_name":"Bryony Thompson","item_type":"entity","text":"DMD was changed to DMD_DMD_GAA","entity_name":"DMD_DMD_GAA","entity_type":"str"},{"created":"2025-04-25T12:14:02.960190+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.238","user_name":"Bryony Thompson","item_type":"entity","text":"CCD was changed to RUNX2_CCD_GCN","entity_name":"RUNX2_CCD_GCN","entity_type":"str"},{"created":"2025-04-25T12:05:23.269681+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.14","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: RFC1_CANVAS_ANNGN as ready","entity_name":"RFC1_CANVAS_ANNGN","entity_type":"str"},{"created":"2025-04-25T12:05:23.261991+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.14","user_name":"Bryony Thompson","item_type":"entity","text":"Str: rfc1_canvas_anngn has been classified as Green List (High Evidence).","entity_name":"RFC1_CANVAS_ANNGN","entity_type":"str"},{"created":"2025-04-25T12:05:09.621464+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.14","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: RFC1_CANVAS_ANNGN as Green List (high evidence)","entity_name":"RFC1_CANVAS_ANNGN","entity_type":"str"},{"created":"2025-04-25T12:05:09.614238+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.14","user_name":"Bryony Thompson","item_type":"entity","text":"Str: rfc1_canvas_anngn has been classified as Green List (High Evidence).","entity_name":"RFC1_CANVAS_ANNGN","entity_type":"str"},{"created":"2025-04-25T12:04:43.001818+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.13","user_name":"Bryony Thompson","item_type":"entity","text":"STR: RFC1_CANVAS_ANNGN was added\nSTR: RFC1_CANVAS_ANNGN was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for STR: RFC1_CANVAS_ANNGN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: RFC1_CANVAS_ANNGN were set to 39833204; 39152783; 38789445; 36705320; 35013364\nPhenotypes for STR: RFC1_CANVAS_ANNGN were set to Parkinson disease MONDO:0005180\nReview for STR: RFC1_CANVAS_ANNGN was set to GREEN\nSTR: RFC1_CANVAS_ANNGN was marked as clinically relevant\nSTR: RFC1_CANVAS_ANNGN was marked as current diagnostic\nAdded comment: Biallelic RFC1 expansions have been identified as a rare cause of Parkinson's disease, without ataxia or neuropathy. \nSources: Literature","entity_name":"RFC1_CANVAS_ANNGN","entity_type":"str"},{"created":"2025-04-25T11:41:42.832133+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2487","user_name":"Bryony Thompson","item_type":"panel","text":"removed STR:CANVAS_ACAGG from the panel","entity_name":null,"entity_type":null},{"created":"2025-04-25T11:40:46.264163+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2486","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: CANVAS_ACAGG as No list","entity_name":"CANVAS_ACAGG","entity_type":"str"},{"created":"2025-04-25T11:40:46.254304+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2486","user_name":"Bryony Thompson","item_type":"entity","text":"Str: canvas_acagg has been removed from the panel.","entity_name":"CANVAS_ACAGG","entity_type":"str"},{"created":"2025-04-25T11:39:30.498578+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.22","user_name":"Bryony Thompson","item_type":"panel","text":"removed STR:CANVAS_ACAGG from the panel","entity_name":null,"entity_type":null},{"created":"2025-04-25T11:30:40.847963+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.21","user_name":"Bryony Thompson","item_type":"entity","text":"Repeated Sequence for RFC1_CANVAS_ANNGN was changed from AAGGG to ANNGN.","entity_name":"RFC1_CANVAS_ANNGN","entity_type":"str"},{"created":"2025-04-25T11:28:37.537530+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.20","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: RFC1_CANVAS_ANNGN as ready","entity_name":"RFC1_CANVAS_ANNGN","entity_type":"str"},{"created":"2025-04-25T11:28:37.531387+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.20","user_name":"Bryony Thompson","item_type":"entity","text":"Str: rfc1_canvas_anngn has been classified as Green List (High Evidence).","entity_name":"RFC1_CANVAS_ANNGN","entity_type":"str"},{"created":"2025-04-25T11:28:25.906773+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.20","user_name":"Bryony Thompson","item_type":"entity","text":"CANVAS was changed to RFC1_CANVAS_ANNGN","entity_name":"RFC1_CANVAS_ANNGN","entity_type":"str"},{"created":"2025-04-25T11:25:28.193610+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.237","user_name":"Bryony Thompson","item_type":"panel","text":"removed STR:RFC1_CANVAS_ACAGG from the panel","entity_name":null,"entity_type":null},{"created":"2025-04-25T11:24:29.118646+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.236","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of STR: RFC1_CANVAS_ANNGN: Changed publications: 30926972, 32851396, 33237689, 31230722, 33237689, 32694621, 33103729, 35355059; Set clinically relevant: no","entity_name":"RFC1_CANVAS_ANNGN","entity_type":"str"},{"created":"2025-04-25T11:24:19.940155+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.236","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for STR: RFC1_CANVAS_ANNGN were set to 30926972; 32851396; 33237689; 31230722; 33237689; 32694621; 33103729; 35355059","entity_name":"RFC1_CANVAS_ANNGN","entity_type":"str"},{"created":"2025-04-25T11:24:07.218469+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.235","user_name":"Bryony Thompson","item_type":"entity","text":"commented on STR: RFC1_CANVAS_ANNGN: Multiple apparently pathogenic  expansions now reported (AGGGC, AAGGC, AGAGG, AAAGG, ACAGG) other than the common AAGGG expansion","entity_name":"RFC1_CANVAS_ANNGN","entity_type":"str"},{"created":"2025-04-25T11:22:00.319048+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.235","user_name":"Bryony Thompson","item_type":"entity","text":"RFC1_CANVAS_AAGGG was changed to RFC1_CANVAS_ANNGN\nRepeated Sequence for RFC1_CANVAS_ANNGN was changed from AAGGG to ANNGN.","entity_name":"RFC1_CANVAS_ANNGN","entity_type":"str"},{"created":"2025-04-25T11:21:17.108368+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.234","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for STR: RFC1_CANVAS_AAGGG were set to 30926972; 32851396; 33237689; 31230722","entity_name":"RFC1_CANVAS_AAGGG","entity_type":"str"},{"created":"2025-04-25T11:19:04.714700+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2485","user_name":"Bryony Thompson","item_type":"entity","text":"RFC1_CANVAS_ANNGG was changed to RFC1_CANVAS_ANNGN\nRepeated Sequence for RFC1_CANVAS_ANNGN was changed from ANNGG to ANNGN.\nPublications for STR: RFC1_CANVAS_ANNGN were changed from 33237689; 32694621; 33103729; 35355059 to 33237689; 32694621; 33103729; 35355059; 37450567","entity_name":"RFC1_CANVAS_ANNGN","entity_type":"str"},{"created":"2025-04-25T11:11:26.620502+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2484","user_name":"Bryony Thompson","item_type":"entity","text":"RFC1_CANVAS_AMRGG was changed to RFC1_CANVAS_ANNGG","entity_name":"RFC1_CANVAS_ANNGG","entity_type":"str"},{"created":"2025-04-25T11:11:04.996846+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2483","user_name":"Bryony Thompson","item_type":"entity","text":"CANVAS was changed to RFC1_CANVAS_AMRGG\nRepeated Sequence for RFC1_CANVAS_AMRGG was changed from AAGGG to ANNGG.\nPublications for STR: RFC1_CANVAS_AMRGG were changed from 30926972; 32851396 to 33237689; 32694621; 33103729; 35355059","entity_name":"RFC1_CANVAS_AMRGG","entity_type":"str"},{"created":"2025-04-25T10:57:00.067953+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.233","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for STR: RFC1_CANVAS_ACAGG were set to 33237689; 32694621; 33103729","entity_name":"RFC1_CANVAS_ACAGG","entity_type":"str"},{"created":"2025-04-25T10:56:27.584459+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.232","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: RFC1_CANVAS_ACAGG as Green List (high evidence)","entity_name":"RFC1_CANVAS_ACAGG","entity_type":"str"},{"created":"2025-04-25T10:56:27.578133+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.232","user_name":"Bryony Thompson","item_type":"entity","text":"Str: rfc1_canvas_acagg has been classified as Green List (High Evidence).","entity_name":"RFC1_CANVAS_ACAGG","entity_type":"str"},{"created":"2025-04-25T10:56:16.012844+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.231","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of STR: RFC1_CANVAS_ACAGG: Added comment: Greater than 10 families reported now. Also compound heterozygote (ACAGG)exp/(AAGGG)exp cases reported.; Changed rating: GREEN; Changed publications: 33237689, 32694621, 33103729, 35355059","entity_name":"RFC1_CANVAS_ACAGG","entity_type":"str"},{"created":"2025-04-25T10:08:19.133843+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.231","user_name":"Bryony Thompson","item_type":"entity","text":"CANVAS_ACAGG was changed to RFC1_CANVAS_ACAGG","entity_name":"RFC1_CANVAS_ACAGG","entity_type":"str"},{"created":"2025-04-25T10:07:11.935892+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.230","user_name":"Bryony Thompson","item_type":"entity","text":"XDP was changed to TAF1_XDP_CCCTCT","entity_name":"TAF1_XDP_CCCTCT","entity_type":"str"},{"created":"2025-04-25T10:06:38.544202+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.229","user_name":"Bryony Thompson","item_type":"entity","text":"TOF was changed to TBX1_TOF_GCN","entity_name":"TBX1_TOF_GCN","entity_type":"str"},{"created":"2025-04-25T10:06:05.431464+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.228","user_name":"Bryony Thompson","item_type":"entity","text":"SPD1 was changed to HOXD13_SPD1_GCG","entity_name":"HOXD13_SPD1_GCG","entity_type":"str"},{"created":"2025-04-25T10:04:40.028061+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.227","user_name":"Bryony Thompson","item_type":"entity","text":"SCA8 was changed to ATXN8OS_SCA8_CTG","entity_name":"ATXN8OS_SCA8_CTG","entity_type":"str"},{"created":"2025-04-25T10:04:07.913934+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.226","user_name":"Bryony Thompson","item_type":"entity","text":"SCA7 was changed to ATXN7_SCA7_CAG","entity_name":"ATXN7_SCA7_CAG","entity_type":"str"},{"created":"2025-04-25T10:03:43.615707+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.225","user_name":"Bryony Thompson","item_type":"entity","text":"SCA6 was changed to CACNA1A_SCA6_CAG","entity_name":"CACNA1A_SCA6_CAG","entity_type":"str"},{"created":"2025-04-25T10:03:13.631675+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.224","user_name":"Bryony Thompson","item_type":"entity","text":"SCA4_ZFHX3_GGC was changed to ZFHX3_SCA4_GGC","entity_name":"ZFHX3_SCA4_GGC","entity_type":"str"},{"created":"2025-04-25T10:02:47.154977+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.223","user_name":"Bryony Thompson","item_type":"entity","text":"SCA37 was changed to DAB1_SCA37_ATTTC","entity_name":"DAB1_SCA37_ATTTC","entity_type":"str"},{"created":"2025-04-25T10:02:14.408045+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.222","user_name":"Bryony Thompson","item_type":"entity","text":"SCA36 was changed to NOP56_SCA36_GGCCTG","entity_name":"NOP56_SCA36_GGCCTG","entity_type":"str"},{"created":"2025-04-25T10:01:48.913905+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.221","user_name":"Bryony Thompson","item_type":"entity","text":"SCA31 was changed to BEAN1_SCA31_TGGAA","entity_name":"BEAN1_SCA31_TGGAA","entity_type":"str"},{"created":"2025-04-25T10:01:18.314589+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.220","user_name":"Bryony Thompson","item_type":"entity","text":"SCA3 was changed to ATXN3_SCA3_CAG","entity_name":"ATXN3_SCA3_CAG","entity_type":"str"},{"created":"2025-04-25T10:00:37.416124+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.219","user_name":"Bryony Thompson","item_type":"entity","text":"SCA27B was changed to FGF14_SCA27B_GAA","entity_name":"FGF14_SCA27B_GAA","entity_type":"str"},{"created":"2025-04-25T10:00:11.585260+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.218","user_name":"Bryony Thompson","item_type":"entity","text":"SCA2 was changed to ATXN2_SCA2_CAG","entity_name":"ATXN2_SCA2_CAG","entity_type":"str"},{"created":"2025-04-25T09:59:39.055063+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.217","user_name":"Bryony Thompson","item_type":"entity","text":"SCA17 was changed to TBP_SCA17_CAG","entity_name":"TBP_SCA17_CAG","entity_type":"str"},{"created":"2025-04-25T09:59:07.890580+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.216","user_name":"Bryony Thompson","item_type":"entity","text":"SCA12 was changed to PPP2R2B_SCA12_CAG","entity_name":"PPP2R2B_SCA12_CAG","entity_type":"str"},{"created":"2025-04-25T09:58:40.669334+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.215","user_name":"Bryony Thompson","item_type":"entity","text":"SCA10 was changed to ATXN10_SCA10_ATTCT","entity_name":"ATXN10_SCA10_ATTCT","entity_type":"str"},{"created":"2025-04-25T09:58:03.445755+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.214","user_name":"Bryony Thompson","item_type":"entity","text":"SCA1 was changed to ATXN1_SCA1_CAG","entity_name":"ATXN1_SCA1_CAG","entity_type":"str"},{"created":"2025-04-25T09:57:16.593031+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.213","user_name":"Bryony Thompson","item_type":"entity","text":"SBMA was changed to AR_SBMA_CAG","entity_name":"AR_SBMA_CAG","entity_type":"str"},{"created":"2025-04-25T09:56:37.229839+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.212","user_name":"Bryony Thompson","item_type":"entity","text":"RCPS was changed to EIF4A3_RCPS_complex","entity_name":"EIF4A3_RCPS_complex","entity_type":"str"},{"created":"2025-04-25T09:54:04.930324+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.211","user_name":"Bryony Thompson","item_type":"entity","text":"PHPX was changed to SOX3_PHPX_GCN","entity_name":"SOX3_PHPX_GCN","entity_type":"str"},{"created":"2025-04-25T09:52:28.600678+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.210","user_name":"Bryony Thompson","item_type":"entity","text":"OPDM_ABCD3_GCC was changed to ABCD3_OPDM_GCC","entity_name":"ABCD3_OPDM_GCC","entity_type":"str"},{"created":"2025-04-25T09:50:13.462521+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.209","user_name":"Bryony Thompson","item_type":"entity","text":"OPMD was changed to PABPN1_OPMD_GCN","entity_name":"PABPN1_OPMD_GCN","entity_type":"str"},{"created":"2025-04-25T09:49:43.303833+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.208","user_name":"Bryony Thompson","item_type":"entity","text":"OPDM4 was changed to RILPL1_OPDM4_CGG","entity_name":"RILPL1_OPDM4_CGG","entity_type":"str"},{"created":"2025-04-25T09:49:13.184378+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.207","user_name":"Bryony Thompson","item_type":"entity","text":"OPDM2 was changed to GIPC1_OPDM2_CGG","entity_name":"GIPC1_OPDM2_CGG","entity_type":"str"},{"created":"2025-04-25T09:48:41.794071+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.206","user_name":"Bryony Thompson","item_type":"entity","text":"OPDM1 was changed to LRP12_OPDM1_CGG","entity_name":"LRP12_OPDM1_CGG","entity_type":"str"},{"created":"2025-04-25T09:48:00.525898+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.205","user_name":"Bryony Thompson","item_type":"entity","text":"NIID was changed to NOTCH2NLC_NIID_GGC","entity_name":"NOTCH2NLC_NIID_GGC","entity_type":"str"},{"created":"2025-04-25T09:47:17.363748+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.204","user_name":"Bryony Thompson","item_type":"entity","text":"MRUPAV was changed to PLIN4_MRUPAV_33-mer","entity_name":"PLIN4_MRUPAV_33-mer","entity_type":"str"},{"created":"2025-04-25T07:59:50.312902+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.203","user_name":"Bryony Thompson","item_type":"entity","text":"RFC1_CANVAS_ AAGGG was changed to RFC1_CANVAS_AAGGG","entity_name":"RFC1_CANVAS_AAGGG","entity_type":"str"},{"created":"2025-04-25T07:59:15.120512+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.202","user_name":"Bryony Thompson","item_type":"entity","text":"MEDPSACH was changed to COMP_MEDPSACH_GAC","entity_name":"COMP_MEDPSACH_GAC","entity_type":"str"},{"created":"2025-04-24T21:25:40.588183+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.201","user_name":"Bryony Thompson","item_type":"entity","text":"HSAN8 was changed to PRDM12_HSAN8_GCC","entity_name":"PRDM12_HSAN8_GCC","entity_type":"str"},{"created":"2025-04-24T21:25:07.933753+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.200","user_name":"Bryony Thompson","item_type":"entity","text":"HPE5 was changed to ZIC2_HPE5_GCN","entity_name":"ZIC2_HPE5_GCN","entity_type":"str"},{"created":"2025-04-24T21:24:23.187610+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.199","user_name":"Bryony Thompson","item_type":"entity","text":"HMNMYO was changed to VWA1_HMNMYO_GCGCGGAGCG","entity_name":"VWA1_HMNMYO_GCGCGGAGCG","entity_type":"str"}]}