{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=251","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=249","results":[{"created":"2025-04-25T17:31:57.456486+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.49","user_name":"Bryony Thompson","item_type":"entity","text":"DM1 was changed to DMPK_DM1_CTG","entity_name":"DMPK_DM1_CTG","entity_type":"str"},{"created":"2025-04-25T17:31:20.699100+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.108","user_name":"Bryony Thompson","item_type":"entity","text":"DM1 was changed to DMPK_DM1_CTG","entity_name":"DMPK_DM1_CTG","entity_type":"str"},{"created":"2025-04-25T17:30:48.961820+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2499","user_name":"Bryony Thompson","item_type":"entity","text":"DM1 was changed to DMPK_DM1_CTG","entity_name":"DMPK_DM1_CTG","entity_type":"str"},{"created":"2025-04-25T17:26:11.750625+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2498","user_name":"Bryony Thompson","item_type":"entity","text":"SCA37 was changed to DAB1_SCA37_ATTTC","entity_name":"DAB1_SCA37_ATTTC","entity_type":"str"},{"created":"2025-04-25T17:25:27.540337+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.542","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: DAB1_SCA37_ATTTC as ready","entity_name":"DAB1_SCA37_ATTTC","entity_type":"str"},{"created":"2025-04-25T17:25:27.533920+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.542","user_name":"Bryony Thompson","item_type":"entity","text":"Str: dab1_sca37_atttc has been classified as Green List (High Evidence).","entity_name":"DAB1_SCA37_ATTTC","entity_type":"str"},{"created":"2025-04-25T17:25:19.752325+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.542","user_name":"Bryony Thompson","item_type":"entity","text":"SCA37 was changed to DAB1_SCA37_ATTTC","entity_name":"DAB1_SCA37_ATTTC","entity_type":"str"},{"created":"2025-04-25T17:19:07.503634+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.136","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: CSTB_EPM1_CCCCGCCCCGCG as ready","entity_name":"CSTB_EPM1_CCCCGCCCCGCG","entity_type":"str"},{"created":"2025-04-25T17:19:07.497159+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.136","user_name":"Bryony Thompson","item_type":"entity","text":"Str: cstb_epm1_ccccgccccgcg has been classified as Green List (High Evidence).","entity_name":"CSTB_EPM1_CCCCGCCCCGCG","entity_type":"str"},{"created":"2025-04-25T17:19:04.100274+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.136","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: CSTB_EPM1_CCCCGCCCCGCG as Green List (high evidence)","entity_name":"CSTB_EPM1_CCCCGCCCCGCG","entity_type":"str"},{"created":"2025-04-25T17:19:04.090625+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.136","user_name":"Bryony Thompson","item_type":"entity","text":"Str: cstb_epm1_ccccgccccgcg has been classified as Green List (High Evidence).","entity_name":"CSTB_EPM1_CCCCGCCCCGCG","entity_type":"str"},{"created":"2025-04-25T17:18:39.725615+10:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: CSTB_EPM1_CCCCGCCCCGCG as ready","entity_name":"CSTB_EPM1_CCCCGCCCCGCG","entity_type":"str"},{"created":"2025-04-25T17:18:39.715406+10:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"Str: cstb_epm1_ccccgccccgcg has been classified as Green List (High Evidence).","entity_name":"CSTB_EPM1_CCCCGCCCCGCG","entity_type":"str"},{"created":"2025-04-25T17:18:20.074211+10:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: CSTB_EPM1_CCCCGCCCCGCG as Green List (high evidence)","entity_name":"CSTB_EPM1_CCCCGCCCCGCG","entity_type":"str"},{"created":"2025-04-25T17:18:20.067897+10:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"Str: cstb_epm1_ccccgccccgcg has been classified as Green List (High Evidence).","entity_name":"CSTB_EPM1_CCCCGCCCCGCG","entity_type":"str"},{"created":"2025-04-25T17:17:50.007356+10:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"STR: CSTB_EPM1_CCCCGCCCCGCG was added\nSTR: CSTB_EPM1_CCCCGCCCCGCG was added to Progressive Myoclonic Epilepsy. Sources: Expert list\nMode of inheritance for STR: CSTB_EPM1_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: CSTB_EPM1_CCCCGCCCCGCG were set to 29325606; 20301321; 9126745\nPhenotypes for STR: CSTB_EPM1_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800\nReview for STR: CSTB_EPM1_CCCCGCCCCGCG was set to GREEN\nSTR: CSTB_EPM1_CCCCGCCCCGCG was marked as clinically relevant\nSTR: CSTB_EPM1_CCCCGCCCCGCG was marked as current diagnostic\nAdded comment: NM_000100​.4:c.-179CCCCGCCCCGCG[X]\r\nLoss of function, other disease-associated variants can cause loss of function too. Ataxia age of onset usually occurs a couple of years after PME.\r\nNormal: 2-3 dodecamer repeats\r\nUncertain significance: 12-17 dodecamer repeats (unstable, but not clinically characterized)\r\nPathogenic (full penetrance): ≥30 dodecamer repeats \nSources: Expert list","entity_name":"CSTB_EPM1_CCCCGCCCCGCG","entity_type":"str"},{"created":"2025-04-25T17:17:41.186603+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.135","user_name":"Bryony Thompson","item_type":"entity","text":"STR: CSTB_EPM1_CCCCGCCCCGCG was added\nSTR: CSTB_EPM1_CCCCGCCCCGCG was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for STR: CSTB_EPM1_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: CSTB_EPM1_CCCCGCCCCGCG were set to 29325606; 20301321; 9126745\nPhenotypes for STR: CSTB_EPM1_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800\nReview for STR: CSTB_EPM1_CCCCGCCCCGCG was set to GREEN\nSTR: CSTB_EPM1_CCCCGCCCCGCG was marked as clinically relevant\nSTR: CSTB_EPM1_CCCCGCCCCGCG was marked as current diagnostic\nAdded comment: NM_000100​.4:c.-179CCCCGCCCCGCG[X]\r\nLoss of function, other disease-associated variants can cause loss of function too. Ataxia age of onset usually occurs a couple of years after PME.\r\nNormal: 2-3 dodecamer repeats\r\nUncertain significance: 12-17 dodecamer repeats (unstable, but not clinically characterized)\r\nPathogenic (full penetrance): ≥30 dodecamer repeats \nSources: Expert list","entity_name":"CSTB_EPM1_CCCCGCCCCGCG","entity_type":"str"},{"created":"2025-04-25T16:23:30.908327+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.48","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: CNBP_DM2_CCTG as ready","entity_name":"CNBP_DM2_CCTG","entity_type":"str"},{"created":"2025-04-25T16:23:30.902086+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.48","user_name":"Bryony Thompson","item_type":"entity","text":"Str: cnbp_dm2_cctg has been classified as Green List (High Evidence).","entity_name":"CNBP_DM2_CCTG","entity_type":"str"},{"created":"2025-04-25T16:23:26.376309+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.48","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: CNBP_DM2_CCTG as Green List (high evidence)","entity_name":"CNBP_DM2_CCTG","entity_type":"str"},{"created":"2025-04-25T16:23:26.367193+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.48","user_name":"Bryony Thompson","item_type":"entity","text":"Str: cnbp_dm2_cctg has been classified as Green List (High Evidence).","entity_name":"CNBP_DM2_CCTG","entity_type":"str"},{"created":"2025-04-25T16:23:11.622498+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.47","user_name":"Bryony Thompson","item_type":"entity","text":"STR: CNBP_DM2_CCTG was added\nSTR: CNBP_DM2_CCTG was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list\nMode of inheritance for STR: CNBP_DM2_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: CNBP_DM2_CCTG were set to 20301639; 11486088\nPhenotypes for STR: CNBP_DM2_CCTG were set to Myotonic dystrophy 2 MIM#602668\nReview for STR: CNBP_DM2_CCTG was set to GREEN\nSTR: CNBP_DM2_CCTG was marked as clinically relevant\nSTR: CNBP_DM2_CCTG was marked as current diagnostic\nAdded comment: HGVS nomenclature: NM_003418.4:c.-14-833_-14-830[X]\r\nToxic gain of function RNA expected mechanism of disease\r\nNormal: ≤30 uninterrupted CCTG repeats, 11-26 CCTG repeats with any GCTC or TCTG interruptions\r\nUnknown significance (normal vs. mutable): 27-29 CCTG repeats\r\nMutable normal (premutation) alleles. ~30-~54 CCTG repeats\r\nUnknown significance (premutation vs pathogenic): ~55-74 CCTG repeats\r\nPathogenic: ~75-11,000 CCTG repeats \nSources: Expert list","entity_name":"CNBP_DM2_CCTG","entity_type":"str"},{"created":"2025-04-25T16:21:06.518373+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2497","user_name":"Bryony Thompson","item_type":"entity","text":"DM2 was changed to CNBP_DM2_CCTG","entity_name":"CNBP_DM2_CCTG","entity_type":"str"},{"created":"2025-04-25T16:14:16.597469+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.280","user_name":"Bryony Thompson","item_type":"entity","text":"FTDALS was changed to C9orf72_FTDALS_GGGGCC","entity_name":"C9orf72_FTDALS_GGGGCC","entity_type":"str"},{"created":"2025-04-25T16:13:26.919134+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.315","user_name":"Bryony Thompson","item_type":"entity","text":"FTDALS was changed to C9orf72_FTDALS_GGGGCC","entity_name":"C9orf72_FTDALS_GGGGCC","entity_type":"str"},{"created":"2025-04-25T16:12:57.856411+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.23","user_name":"Bryony Thompson","item_type":"entity","text":"FTDALS was changed to C9orf72_FTDALS_GGGGCC","entity_name":"C9orf72_FTDALS_GGGGCC","entity_type":"str"},{"created":"2025-04-25T16:12:18.882954+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.32","user_name":"Bryony Thompson","item_type":"entity","text":"FTDALS was changed to C9orf72_FTDALS_GGGGCC","entity_name":"C9orf72_FTDALS_GGGGCC","entity_type":"str"},{"created":"2025-04-25T16:11:53.701248+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.36","user_name":"Bryony Thompson","item_type":"entity","text":"FTDALS was changed to C9orf72_FTDALS_GGGGCC","entity_name":"C9orf72_FTDALS_GGGGCC","entity_type":"str"},{"created":"2025-04-25T16:09:54.789751+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2496","user_name":"Bryony Thompson","item_type":"entity","text":"SCA31 was changed to BEAN1_SCA31_TGGAA","entity_name":"BEAN1_SCA31_TGGAA","entity_type":"str"},{"created":"2025-04-25T15:58:55.909857+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2495","user_name":"Bryony Thompson","item_type":"entity","text":"SCA7 was changed to ATXN7_SCA7_CAG","entity_name":"ATXN7_SCA7_CAG","entity_type":"str"},{"created":"2025-04-25T15:58:22.055572+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.223","user_name":"Bryony Thompson","item_type":"entity","text":"SCA7 was changed to ATXN7_SCA7_CAG","entity_name":"ATXN7_SCA7_CAG","entity_type":"str"},{"created":"2025-04-25T15:57:00.726787+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.22","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: ATXN3_SCA3_CAG as ready","entity_name":"ATXN3_SCA3_CAG","entity_type":"str"},{"created":"2025-04-25T15:57:00.720126+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.22","user_name":"Bryony Thompson","item_type":"entity","text":"Str: atxn3_sca3_cag has been classified as Green List (High Evidence).","entity_name":"ATXN3_SCA3_CAG","entity_type":"str"},{"created":"2025-04-25T15:56:57.165046+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.22","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: ATXN3_SCA3_CAG as Green List (high evidence)","entity_name":"ATXN3_SCA3_CAG","entity_type":"str"},{"created":"2025-04-25T15:56:57.151972+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.22","user_name":"Bryony Thompson","item_type":"entity","text":"Str: atxn3_sca3_cag has been classified as Green List (High Evidence).","entity_name":"ATXN3_SCA3_CAG","entity_type":"str"},{"created":"2025-04-25T15:56:31.087346+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.21","user_name":"Bryony Thompson","item_type":"entity","text":"STR: ATXN3_SCA3_CAG was added\nSTR: ATXN3_SCA3_CAG was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for STR: ATXN3_SCA3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ATXN3_SCA3_CAG were set to 11176969; 7574470; 7874163; 20301375; 29325606\nPhenotypes for STR: ATXN3_SCA3_CAG were set to Machado-Joseph disease MIM#109150; Spinocerebellar ataxia type 3\nReview for STR: ATXN3_SCA3_CAG was set to GREEN\nSTR: ATXN3_SCA3_CAG was marked as clinically relevant\nSTR: ATXN3_SCA3_CAG was marked as current diagnostic\nAdded comment: NM_004993​.5:c.886_888CAG[X]\r\nToxic aggregation and mislocalization in neurons is mechanism of disease\r\nNormal: ≤44 repeats, mostly <31 repeats\r\nIntermediate: 45-59 repeats, some intermediate alleles are not associated with classic clinical features of SCA3\r\nPathogenic (full penetrance): ≥60 repeats \nSources: Literature","entity_name":"ATXN3_SCA3_CAG","entity_type":"str"},{"created":"2025-04-25T15:52:53.984076+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2494","user_name":"Bryony Thompson","item_type":"entity","text":"SCA3 was changed to ATXN3_SCA3_CAG","entity_name":"ATXN3_SCA3_CAG","entity_type":"str"},{"created":"2025-04-25T15:51:44.868135+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.20","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: ATXN2_SCA2_CAG as ready","entity_name":"ATXN2_SCA2_CAG","entity_type":"str"},{"created":"2025-04-25T15:51:44.862565+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.20","user_name":"Bryony Thompson","item_type":"entity","text":"Str: atxn2_sca2_cag has been classified as Green List (High Evidence).","entity_name":"ATXN2_SCA2_CAG","entity_type":"str"},{"created":"2025-04-25T15:51:39.881257+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.20","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: ATXN2_SCA2_CAG as Green List (high evidence)","entity_name":"ATXN2_SCA2_CAG","entity_type":"str"},{"created":"2025-04-25T15:51:39.875185+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.20","user_name":"Bryony Thompson","item_type":"entity","text":"Str: atxn2_sca2_cag has been classified as Green List (High Evidence).","entity_name":"ATXN2_SCA2_CAG","entity_type":"str"},{"created":"2025-04-25T15:51:13.585846+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.19","user_name":"Bryony Thompson","item_type":"entity","text":"STR: ATXN2_SCA2_CAG was added\nSTR: ATXN2_SCA2_CAG was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for STR: ATXN2_SCA2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ATXN2_SCA2_CAG were set to 11761482; 17923635; 8896555; 29325606; 20301452\nPhenotypes for STR: ATXN2_SCA2_CAG were set to Spinocerebellar ataxia 2 MIM#183090\nReview for STR: ATXN2_SCA2_CAG was set to GREEN\nSTR: ATXN2_SCA2_CAG was marked as clinically relevant\nSTR: ATXN2_SCA2_CAG was marked as current diagnostic\nAdded comment: NM_002973​.3:c.496_498CAG[X]\r\nToxic protein aggregation is mechanism of disease\r\nBenign: ≤31 repeats (homozygous 31/31 repeats reported for recessive SCA2)\r\nUncertain: 32 repeats\r\nALS risk allele: 30-32 repeats\r\nReduced penetrance: 33-34 repeats, may not develop symptoms or only very late in life\r\nFull penetrance: ≥35 repeats\r\nInterruption of a CAG expanded allele by a CAA repeat does not mitigate the pathogenicity of the repeat size, but may enhance the meiotic stability of the repeat \nSources: Literature","entity_name":"ATXN2_SCA2_CAG","entity_type":"str"},{"created":"2025-04-25T15:48:07.604693+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.31","user_name":"Bryony Thompson","item_type":"entity","text":"SCA2 was changed to ATXN2_SCA2_CAG","entity_name":"ATXN2_SCA2_CAG","entity_type":"str"},{"created":"2025-04-25T15:47:29.707359+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2493","user_name":"Bryony Thompson","item_type":"entity","text":"SCA2 was changed to ATXN2_SCA2_CAG","entity_name":"ATXN2_SCA2_CAG","entity_type":"str"},{"created":"2025-04-25T15:45:16.468376+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2492","user_name":"Bryony Thompson","item_type":"entity","text":"SCA1 was changed to ATXN1_SCA1_CAG","entity_name":"ATXN1_SCA1_CAG","entity_type":"str"},{"created":"2025-04-25T15:44:59.698576+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.18","user_name":"Bryony Thompson","item_type":"entity","text":"ATXN1_CAG was changed to ATXN1_SCA1_CAG","entity_name":"ATXN1_SCA1_CAG","entity_type":"str"},{"created":"2025-04-25T15:42:03.735932+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2491","user_name":"Bryony Thompson","item_type":"entity","text":"SCA10 was changed to ATXN10_SCA10_ATTCT","entity_name":"ATXN10_SCA10_ATTCT","entity_type":"str"},{"created":"2025-04-25T15:41:43.350424+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.541","user_name":"Bryony Thompson","item_type":"entity","text":"SCA10 was changed to ATXN10_SCA10_ATTCT","entity_name":"ATXN10_SCA10_ATTCT","entity_type":"str"},{"created":"2025-04-25T15:40:12.712928+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.17","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATXN10 as Red List (low evidence)","entity_name":"ATXN10","entity_type":"gene"},{"created":"2025-04-25T15:40:12.708687+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.17","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Only a single family reported","entity_name":"ATXN10","entity_type":"gene"},{"created":"2025-04-25T15:40:12.675902+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.17","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atxn10 has been classified as Red List (Low Evidence).","entity_name":"ATXN10","entity_type":"gene"},{"created":"2025-04-25T15:31:03.322859+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.134","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: ATN1_DRPLA_CAG as ready","entity_name":"ATN1_DRPLA_CAG","entity_type":"str"},{"created":"2025-04-25T15:31:03.312896+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.134","user_name":"Bryony Thompson","item_type":"entity","text":"Str: atn1_drpla_cag has been classified as Green List (High Evidence).","entity_name":"ATN1_DRPLA_CAG","entity_type":"str"},{"created":"2025-04-25T15:30:55.562894+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.134","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: ATN1_DRPLA_CAG as Green List (high evidence)","entity_name":"ATN1_DRPLA_CAG","entity_type":"str"},{"created":"2025-04-25T15:30:55.556243+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.134","user_name":"Bryony Thompson","item_type":"entity","text":"Str: atn1_drpla_cag has been classified as Green List (High Evidence).","entity_name":"ATN1_DRPLA_CAG","entity_type":"str"},{"created":"2025-04-25T15:30:30.893780+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.133","user_name":"Bryony Thompson","item_type":"entity","text":"STR: ATN1_DRPLA_CAG was added\nSTR: ATN1_DRPLA_CAG was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for STR: ATN1_DRPLA_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ATN1_DRPLA_CAG were set to 8136840; 8136826; 29325606; 20301664\nPhenotypes for STR: ATN1_DRPLA_CAG were set to Dentatorubral-pallidoluysian atrophy MIM#125370\nReview for STR: ATN1_DRPLA_CAG was set to GREEN\nSTR: ATN1_DRPLA_CAG was marked as clinically relevant\nSTR: ATN1_DRPLA_CAG was marked as current diagnostic\nAdded comment: NM_001007026​.1:c.1462_1464CAG[X]\r\nToxic gain of function mechanism of disease\r\nBenign: ≤35 repeats\r\nMutable normal: 20-35 repeats\r\nPathogenic: ≥48 repeats\r\nAge <20 years: ≥63 repeats - ataxia, myoclonus, seizures, progressive intellectual deterioration Age 21-40 years 61-69 repeats, >40 years 48-67 repeats: ataxia, choreoathetosis, dementia, psychiatric disturbance \nSources: Expert list","entity_name":"ATN1_DRPLA_CAG","entity_type":"str"},{"created":"2025-04-25T15:28:45.502172+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.35","user_name":"Bryony Thompson","item_type":"entity","text":"DRPLA was changed to ATN1_DRPLA_CAG","entity_name":"ATN1_DRPLA_CAG","entity_type":"str"},{"created":"2025-04-25T15:27:54.543106+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.34","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CAPRIN1 as ready","entity_name":"CAPRIN1","entity_type":"gene"},{"created":"2025-04-25T15:27:54.536354+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.34","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: caprin1 has been classified as Green List (High Evidence).","entity_name":"CAPRIN1","entity_type":"gene"},{"created":"2025-04-25T15:27:47.027577+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.34","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CAPRIN1 as Green List (high evidence)","entity_name":"CAPRIN1","entity_type":"gene"},{"created":"2025-04-25T15:27:47.016805+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.34","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: caprin1 has been classified as Green List (High Evidence).","entity_name":"CAPRIN1","entity_type":"gene"},{"created":"2025-04-25T15:25:15.676996+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.279","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NACC1 as ready","entity_name":"NACC1","entity_type":"gene"},{"created":"2025-04-25T15:25:15.669702+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.279","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nacc1 has been classified as Green List (High Evidence).","entity_name":"NACC1","entity_type":"gene"},{"created":"2025-04-25T15:25:11.142457+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.279","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NACC1 as Green List (high evidence)","entity_name":"NACC1","entity_type":"gene"},{"created":"2025-04-25T15:25:11.132253+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.279","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nacc1 has been classified as Green List (High Evidence).","entity_name":"NACC1","entity_type":"gene"},{"created":"2025-04-25T15:24:20.132497+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.278","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NAA15 as ready","entity_name":"NAA15","entity_type":"gene"},{"created":"2025-04-25T15:24:20.126247+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.278","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: naa15 has been classified as Green List (High Evidence).","entity_name":"NAA15","entity_type":"gene"},{"created":"2025-04-25T15:24:11.825649+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.278","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NAA15 as Green List (high evidence)","entity_name":"NAA15","entity_type":"gene"},{"created":"2025-04-25T15:24:11.817596+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.278","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: naa15 has been classified as Green List (High Evidence).","entity_name":"NAA15","entity_type":"gene"},{"created":"2025-04-25T15:21:58.895608+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.277","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PAH as ready","entity_name":"PAH","entity_type":"gene"},{"created":"2025-04-25T15:21:58.888551+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.277","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pah has been classified as Green List (High Evidence).","entity_name":"PAH","entity_type":"gene"},{"created":"2025-04-25T15:21:46.262190+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.277","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PAH as Green List (high evidence)","entity_name":"PAH","entity_type":"gene"},{"created":"2025-04-25T15:21:46.251674+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.277","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pah has been classified as Green List (High Evidence).","entity_name":"PAH","entity_type":"gene"},{"created":"2025-04-25T15:14:35.144570+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.107","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: ARX_EIEE1_GCN2 as ready","entity_name":"ARX_EIEE1_GCN2","entity_type":"str"},{"created":"2025-04-25T15:14:35.138170+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.107","user_name":"Bryony Thompson","item_type":"entity","text":"Str: arx_eiee1_gcn2 has been classified as Green List (High Evidence).","entity_name":"ARX_EIEE1_GCN2","entity_type":"str"},{"created":"2025-04-25T15:14:30.794844+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.107","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: ARX_EIEE1_GCN2 as Green List (high evidence)","entity_name":"ARX_EIEE1_GCN2","entity_type":"str"},{"created":"2025-04-25T15:14:30.787874+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.107","user_name":"Bryony Thompson","item_type":"entity","text":"Str: arx_eiee1_gcn2 has been classified as Green List (High Evidence).","entity_name":"ARX_EIEE1_GCN2","entity_type":"str"},{"created":"2025-04-25T15:14:27.135289+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.132","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: ARX_EIEE1_GCN2 as ready","entity_name":"ARX_EIEE1_GCN2","entity_type":"str"},{"created":"2025-04-25T15:14:27.125016+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.132","user_name":"Bryony Thompson","item_type":"entity","text":"Str: arx_eiee1_gcn2 has been classified as Green List (High Evidence).","entity_name":"ARX_EIEE1_GCN2","entity_type":"str"},{"created":"2025-04-25T15:14:17.004545+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.132","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: ARX_EIEE1_GCN2 as Green List (high evidence)","entity_name":"ARX_EIEE1_GCN2","entity_type":"str"},{"created":"2025-04-25T15:14:16.997080+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.132","user_name":"Bryony Thompson","item_type":"entity","text":"Str: arx_eiee1_gcn2 has been classified as Green List (High Evidence).","entity_name":"ARX_EIEE1_GCN2","entity_type":"str"},{"created":"2025-04-25T15:13:47.444719+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.276","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: ARX_EIEE1_GCN2 as ready","entity_name":"ARX_EIEE1_GCN2","entity_type":"str"},{"created":"2025-04-25T15:13:47.435665+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.276","user_name":"Bryony Thompson","item_type":"entity","text":"Str: arx_eiee1_gcn2 has been classified as Green List (High Evidence).","entity_name":"ARX_EIEE1_GCN2","entity_type":"str"},{"created":"2025-04-25T15:13:44.703176+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.276","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: ARX_EIEE1_GCN2 as Green List (high evidence)","entity_name":"ARX_EIEE1_GCN2","entity_type":"str"},{"created":"2025-04-25T15:13:44.696092+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.276","user_name":"Bryony Thompson","item_type":"entity","text":"Str: arx_eiee1_gcn2 has been classified as Green List (High Evidence).","entity_name":"ARX_EIEE1_GCN2","entity_type":"str"},{"created":"2025-04-25T15:13:40.918084+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.106","user_name":"Bryony Thompson","item_type":"entity","text":"STR: ARX_EIEE1_GCN2 was added\nSTR: ARX_EIEE1_GCN2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for STR: ARX_EIEE1_GCN2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: ARX_EIEE1_GCN2 were set to 11889467; 33811808\nPhenotypes for STR: ARX_EIEE1_GCN2 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_GCN2 was set to GREEN\nSTR: ARX_EIEE1_GCN2 was marked as clinically relevant\nSTR: ARX_EIEE1_GCN2 was marked as current diagnostic\nAdded comment: NM_139058.3(ARX):c.429GGC[X]\r\nMechanism of disease is polyAlanine tract associated with dominant-negative effect\r\nPolyAla tract 2 of 2 polyAla tracts associated with disease\r\nNormal repeat number: 12\r\nPathogenic repeat number: 20 \nSources: Expert list","entity_name":"ARX_EIEE1_GCN2","entity_type":"str"},{"created":"2025-04-25T15:13:33.868604+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.131","user_name":"Bryony Thompson","item_type":"entity","text":"STR: ARX_EIEE1_GCN2 was added\nSTR: ARX_EIEE1_GCN2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for STR: ARX_EIEE1_GCN2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: ARX_EIEE1_GCN2 were set to 11889467; 33811808\nPhenotypes for STR: ARX_EIEE1_GCN2 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_GCN2 was set to GREEN\nSTR: ARX_EIEE1_GCN2 was marked as clinically relevant\nSTR: ARX_EIEE1_GCN2 was marked as current diagnostic\nAdded comment: NM_139058.3(ARX):c.429GGC[X]\r\nMechanism of disease is polyAlanine tract associated with dominant-negative effect\r\nPolyAla tract 2 of 2 polyAla tracts associated with disease\r\nNormal repeat number: 12\r\nPathogenic repeat number: 20 \nSources: Expert list","entity_name":"ARX_EIEE1_GCN2","entity_type":"str"},{"created":"2025-04-25T15:13:12.296385+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.275","user_name":"Bryony Thompson","item_type":"entity","text":"STR: ARX_EIEE1_GCN2 was added\nSTR: ARX_EIEE1_GCN2 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for STR: ARX_EIEE1_GCN2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: ARX_EIEE1_GCN2 were set to 11889467; 33811808\nPhenotypes for STR: ARX_EIEE1_GCN2 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_GCN2 was set to GREEN\nSTR: ARX_EIEE1_GCN2 was marked as clinically relevant\nSTR: ARX_EIEE1_GCN2 was marked as current diagnostic\nAdded comment: NM_139058.3(ARX):c.429GGC[X]\r\nMechanism of disease is polyAlanine tract associated with dominant-negative effect\r\nPolyAla tract 2 of 2 polyAla tracts associated with disease\r\nNormal repeat number: 12\r\nPathogenic repeat number: 20 \nSources: Expert list","entity_name":"ARX_EIEE1_GCN2","entity_type":"str"},{"created":"2025-04-25T15:09:04.324331+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.130","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":"2025-04-25T15:09:04.318454+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.130","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":"2025-04-25T15:08:56.119339+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.105","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: ARX_EIEE1_GCN1 as ready","entity_name":"ARX_EIEE1_GCN1","entity_type":"str"},{"created":"2025-04-25T15:08:56.111529+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.105","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":"2025-04-25T15:08:41.180055+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.105","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":"2025-04-25T15:08:41.173963+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.105","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":"2025-04-25T15:08:37.287152+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.129","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":"2025-04-25T15:08:37.278641+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.129","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":"2025-04-25T15:08:37.064770+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.128","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: ARX_EIEE1_GCN1 as ready","entity_name":"ARX_EIEE1_GCN1","entity_type":"str"},{"created":"2025-04-25T15:08:37.056986+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 has been classified as Red List (Low Evidence).","entity_name":"ARX_EIEE1_GCN1","entity_type":"str"},{"created":"2025-04-25T15:08:30.224029+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.274","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: ARX_EIEE1_GCN1 as ready","entity_name":"ARX_EIEE1_GCN1","entity_type":"str"},{"created":"2025-04-25T15:08:30.215204+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"}]}