{"count":220918,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1225","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1223","results":[{"created":"2021-08-28T20:54:01.776020+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.93","user_name":"Bryony Thompson","item_type":"entity","text":"Str: spd1 has been classified as Green List (High Evidence).","entity_name":"SPD1","entity_type":"str"},{"created":"2021-08-28T20:53:56.284950+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.93","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: SPD1 as Green List (high evidence)","entity_name":"SPD1","entity_type":"str"},{"created":"2021-08-28T20:53:56.275982+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.93","user_name":"Bryony Thompson","item_type":"entity","text":"Str: spd1 has been classified as Green List (High Evidence).","entity_name":"SPD1","entity_type":"str"},{"created":"2021-08-28T20:53:46.909789+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.92","user_name":"Bryony Thompson","item_type":"entity","text":"STR: SPD1 was added\nSTR: SPD1 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: SPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SPD1 were set to 8817328; 33811808; 33533119\nPhenotypes for STR: SPD1 were set to Synpolydactyly 1 MIM#186000\nReview for STR: SPD1 was set to GREEN\nSTR: SPD1 was marked as clinically relevant\nAdded comment: NM_000523.4(HOXD13):c.212_213GCG[X]\r\nMechanism of disease is polyAlanine tract associated with dominant-negative effect\r\nNormal repeat number: 15\r\nPathogenic repeat number: 24\r\nTruncation of repeat also reported \nSources: Expert list","entity_name":"SPD1","entity_type":"str"},{"created":"2021-08-28T20:49:29.155186+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.91","user_name":"Bryony Thompson","item_type":"panel","text":"removed STR:SPD1 from the panel","entity_name":null,"entity_type":null},{"created":"2021-08-28T20:43:33.621175+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.313","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: DAB1 as ready","entity_name":"DAB1","entity_type":"str"},{"created":"2021-08-28T20:43:33.613009+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.313","user_name":"Bryony Thompson","item_type":"entity","text":"Str: dab1 has been classified as Green List (High Evidence).","entity_name":"DAB1","entity_type":"str"},{"created":"2021-08-28T20:43:05.169931+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.313","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: DAB1 as Green List (high evidence)","entity_name":"DAB1","entity_type":"str"},{"created":"2021-08-28T20:43:05.160919+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.313","user_name":"Bryony Thompson","item_type":"entity","text":"Str: dab1 has been classified as Green List (High Evidence).","entity_name":"DAB1","entity_type":"str"},{"created":"2021-08-28T20:42:27.878295+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.312","user_name":"Bryony Thompson","item_type":"entity","text":"STR: DAB1 was added\nSTR: DAB1 was added to Callosome. Sources: Expert list\nMode of inheritance for STR: DAB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: DAB1 were set to 28686858; 31145571\nPhenotypes for STR: DAB1 were set to Spinocerebellar ataxia 37 MIM#615945\nReview for STR: DAB1 was set to GREEN\nSTR: DAB1 was marked as clinically relevant\nAdded comment: NC_000001.10:g.57832716_57832797ins[(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90]\r\nLocated in a 5'UTR intron, flanked by (ATTTT)n on both sides. RNA toxicity is the mechanism of disease.\r\nNon-pathogenic allele: (ATTTT)7–400\r\nPathogenic allele: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90] \nSources: Expert list","entity_name":"DAB1","entity_type":"str"},{"created":"2021-08-28T20:40:45.881706+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.90","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: SCA37 as ready","entity_name":"SCA37","entity_type":"str"},{"created":"2021-08-28T20:40:45.872302+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.90","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca37 has been classified as Green List (High Evidence).","entity_name":"SCA37","entity_type":"str"},{"created":"2021-08-28T20:40:41.702526+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.90","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: SCA37 as Green List (high evidence)","entity_name":"SCA37","entity_type":"str"},{"created":"2021-08-28T20:40:41.693462+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.90","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca37 has been classified as Green List (High Evidence).","entity_name":"SCA37","entity_type":"str"},{"created":"2021-08-28T20:40:10.383068+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.89","user_name":"Bryony Thompson","item_type":"entity","text":"STR: SCA37 was added\nSTR: SCA37 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: SCA37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA37 were set to 28686858; 31145571\nPhenotypes for STR: SCA37 were set to Spinocerebellar ataxia 37 MIM#615945\nReview for STR: SCA37 was set to GREEN\nSTR: SCA37 was marked as clinically relevant\nAdded comment: NC_000001.10:g.57832716_57832797ins[(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90]\r\nLocated in a 5'UTR intron, flanked by (ATTTT)n on both sides. RNA toxicity is the mechanism of disease.\r\nNon-pathogenic allele: (ATTTT)7–400\r\nPathogenic allele: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90] \nSources: Expert list","entity_name":"SCA37","entity_type":"str"},{"created":"2021-08-28T20:31:41.363450+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.311","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DAB1 as No list","entity_name":"DAB1","entity_type":"gene"},{"created":"2021-08-28T20:31:41.358869+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.311","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: STR expansion is the mechanism of disease for this gene. It has been added as an STR to this panel.","entity_name":"DAB1","entity_type":"gene"},{"created":"2021-08-28T20:31:41.325944+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.311","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dab1 has been removed from the panel.","entity_name":"DAB1","entity_type":"gene"},{"created":"2021-08-28T20:27:01.045299+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.88","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Founder Filipino variant. Associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron. The number of repeats in these cases ranged from 35 to 52 and showed a highly significant inverse correlation with age at disease onset. The mechanism of disease is unknown, possibly this intronic retroelement may induce transcriptional interference in TAF1 expression. \nSources: Expert list; to: Founder Filipino variant. Associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within intron 32. The number of repeats in these cases ranged from 35 to 52 and showed a highly significant inverse correlation with age at disease onset. The mechanism of disease is unknown, possibly this intronic retroelement may induce transcriptional interference in TAF1 expression. \r\nSources: Expert list","entity_name":"XDP","entity_type":"str"},{"created":"2021-08-28T20:21:44.444619+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.88","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: XDP as ready","entity_name":"XDP","entity_type":"str"},{"created":"2021-08-28T20:21:44.433986+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.88","user_name":"Bryony Thompson","item_type":"entity","text":"Str: xdp has been classified as Green List (High Evidence).","entity_name":"XDP","entity_type":"str"},{"created":"2021-08-28T20:21:33.176216+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.117","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TAF1 as No list","entity_name":"TAF1","entity_type":"gene"},{"created":"2021-08-28T20:21:33.171461+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.117","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Added as an STR to the panel","entity_name":"TAF1","entity_type":"gene"},{"created":"2021-08-28T20:21:33.137770+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.117","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: taf1 has been removed from the panel.","entity_name":"TAF1","entity_type":"gene"},{"created":"2021-08-28T20:20:22.044060+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.116","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: XDP as ready","entity_name":"XDP","entity_type":"str"},{"created":"2021-08-28T20:20:22.034293+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.116","user_name":"Bryony Thompson","item_type":"entity","text":"Str: xdp has been classified as Green List (High Evidence).","entity_name":"XDP","entity_type":"str"},{"created":"2021-08-28T20:20:07.042767+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.116","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: XDP as Green List (high evidence)","entity_name":"XDP","entity_type":"str"},{"created":"2021-08-28T20:20:07.033680+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.116","user_name":"Bryony Thompson","item_type":"entity","text":"Str: xdp has been classified as Green List (High Evidence).","entity_name":"XDP","entity_type":"str"},{"created":"2021-08-28T20:19:26.333775+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.115","user_name":"Bryony Thompson","item_type":"entity","text":"STR: XDP was added\nSTR: XDP was added to Early-onset Parkinson disease. Sources: Expert list\nfounder tags were added to STR: XDP.\nMode of inheritance for STR: XDP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: XDP were set to 17273961; 29229810\nPhenotypes for STR: XDP were set to Dystonia-Parkinsonism, X-linked MIM#314250\nReview for STR: XDP was set to GREEN\nSTR: XDP was marked as clinically relevant\nAdded comment: Founder Filipino variant. Associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron. The number of repeats in these cases ranged from 35 to 52 and showed a highly significant inverse correlation with age at disease onset. The mechanism of disease is unknown, possibly this intronic retroelement may induce transcriptional interference in TAF1 expression. \nSources: Expert list","entity_name":"XDP","entity_type":"str"},{"created":"2021-08-28T20:16:53.604294+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.328","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLI3 as ready","entity_name":"GLI3","entity_type":"gene"},{"created":"2021-08-28T20:16:53.594485+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.328","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gli3 has been classified as Green List (High Evidence).","entity_name":"GLI3","entity_type":"gene"},{"created":"2021-08-28T20:16:50.645341+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.328","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome to Pallister-Hall syndrome, MIM# 146510","entity_name":"GLI3","entity_type":"gene"},{"created":"2021-08-28T20:16:42.532290+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLI3 were set to 9054938","entity_name":"GLI3","entity_type":"gene"},{"created":"2021-08-28T20:16:32.328115+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.326","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLI3 as Green List (high evidence)","entity_name":"GLI3","entity_type":"gene"},{"created":"2021-08-28T20:16:32.312993+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.326","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gli3 has been classified as Green List (High Evidence).","entity_name":"GLI3","entity_type":"gene"},{"created":"2021-08-28T20:16:21.832362+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.325","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054938, 10945658, 11693785; Phenotypes: Pallister-Hall syndrome, MIM# 146510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLI3","entity_type":"gene"},{"created":"2021-08-28T20:13:36.042241+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.325","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIM37 as ready","entity_name":"TRIM37","entity_type":"gene"},{"created":"2021-08-28T20:13:36.031974+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.325","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim37 has been classified as Green List (High Evidence).","entity_name":"TRIM37","entity_type":"gene"},{"created":"2021-08-28T20:13:33.201662+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.325","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRIM37 were changed from Mulibrey nanism; Mulibery Nanism, 253250 to Mulibery nanism, MIM#253250","entity_name":"TRIM37","entity_type":"gene"},{"created":"2021-08-28T20:13:15.495557+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.324","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRIM37 were set to ","entity_name":"TRIM37","entity_type":"gene"},{"created":"2021-08-28T20:12:50.681280+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.88","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: XDP as Green List (high evidence)","entity_name":"XDP","entity_type":"str"},{"created":"2021-08-28T20:12:50.671501+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.88","user_name":"Bryony Thompson","item_type":"entity","text":"Str: xdp has been classified as Green List (High Evidence).","entity_name":"XDP","entity_type":"str"},{"created":"2021-08-28T20:12:30.738426+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.87","user_name":"Bryony Thompson","item_type":"entity","text":"STR: XDP was added\nSTR: XDP was added to Repeat Disorders. Sources: Expert list\nfounder tags were added to STR: XDP.\nMode of inheritance for STR: XDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: XDP were set to 17273961; 29229810\nPhenotypes for STR: XDP were set to Dystonia-Parkinsonism, X-linked MIM#314250\nReview for STR: XDP was set to GREEN\nSTR: XDP was marked as clinically relevant\nAdded comment: Founder Filipino variant. Associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron. The number of repeats in these cases ranged from 35 to 52 and showed a highly significant inverse correlation with age at disease onset. The mechanism of disease is unknown, possibly this intronic retroelement may induce transcriptional interference in TAF1 expression. \nSources: Expert list","entity_name":"XDP","entity_type":"str"},{"created":"2021-08-28T18:15:16.382942+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.5","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: FECD3 as ready","entity_name":"FECD3","entity_type":"str"},{"created":"2021-08-28T18:15:16.373865+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.5","user_name":"Bryony Thompson","item_type":"entity","text":"Str: fecd3 has been classified as Green List (High Evidence).","entity_name":"FECD3","entity_type":"str"},{"created":"2021-08-28T18:15:08.029391+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.5","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: FECD3 as Green List (high evidence)","entity_name":"FECD3","entity_type":"str"},{"created":"2021-08-28T18:15:08.019709+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.5","user_name":"Bryony Thompson","item_type":"entity","text":"Str: fecd3 has been classified as Green List (High Evidence).","entity_name":"FECD3","entity_type":"str"},{"created":"2021-08-28T18:14:24.978214+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.4","user_name":"Bryony Thompson","item_type":"entity","text":"STR: FECD3 was added\nSTR: FECD3 was added to Corneal Dystrophy. Sources: Expert list\nMode of inheritance for STR: FECD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FECD3 were set to 25722209; 24255041\nPhenotypes for STR: FECD3 were set to Corneal dystrophy, Fuchs endothelial, 3 MIM#613267\nReview for STR: FECD3 was set to GREEN\nSTR: FECD3 was marked as clinically relevant\nAdded comment: NG_011716.2:g.54765TGC[X]\r\nIntronic CTG repeat expansion, with RNA nuclear foci expected to be the mechanism of disease. The expanded CTG 18.1 allele conferring significant risk for FECD (>30-fold increase). The expanded allele cosegregates with the trait with complete penetrance in a majority of families, but we also document cases of incomplete penetrance.\r\nNormal: 5-31 repeats\r\nPathogenic: >50 repeats \nSources: Expert list","entity_name":"FECD3","entity_type":"str"},{"created":"2021-08-28T18:12:01.213469+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.3","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TCF4 as No list","entity_name":"TCF4","entity_type":"gene"},{"created":"2021-08-28T18:12:01.209417+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.3","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Added as an STR to this panel.","entity_name":"TCF4","entity_type":"gene"},{"created":"2021-08-28T18:12:01.177180+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.3","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tcf4 has been removed from the panel.","entity_name":"TCF4","entity_type":"gene"},{"created":"2021-08-28T18:10:54.055420+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.86","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: FECD3 as ready","entity_name":"FECD3","entity_type":"str"},{"created":"2021-08-28T18:10:54.045269+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.86","user_name":"Bryony Thompson","item_type":"entity","text":"Str: fecd3 has been classified as Green List (High Evidence).","entity_name":"FECD3","entity_type":"str"},{"created":"2021-08-28T18:10:50.525437+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.86","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: FECD3 as Green List (high evidence)","entity_name":"FECD3","entity_type":"str"},{"created":"2021-08-28T18:10:50.515396+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.86","user_name":"Bryony Thompson","item_type":"entity","text":"Str: fecd3 has been classified as Green List (High Evidence).","entity_name":"FECD3","entity_type":"str"},{"created":"2021-08-28T18:10:28.444676+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.85","user_name":"Bryony Thompson","item_type":"entity","text":"STR: FECD3 was added\nSTR: FECD3 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: FECD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FECD3 were set to 25722209; 24255041\nPhenotypes for STR: FECD3 were set to Corneal dystrophy, Fuchs endothelial, 3 MIM#613267\nReview for STR: FECD3 was set to GREEN\nSTR: FECD3 was marked as clinically relevant\nAdded comment: NG_011716.2:g.54765TGC[X]\r\nIntronic CTG repeat expansion, with RNA nuclear foci expected to be the mechanism of disease. The expanded CTG 18.1 allele conferring significant risk for FECD (>30-fold increase). The expanded allele cosegregates with the trait with complete penetrance in a majority of families, but we also document cases of incomplete penetrance.\r\nNormal: 5-31 repeats\r\nPathogenic: >50 repeats \nSources: Expert list","entity_name":"FECD3","entity_type":"str"},{"created":"2021-08-28T17:12:26.374918+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.192","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: FTDALS as ready","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T17:12:26.365237+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.192","user_name":"Bryony Thompson","item_type":"entity","text":"Str: ftdals has been classified as Green List (High Evidence).","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T17:11:33.621234+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.192","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: FTDALS as Green List (high evidence)","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T17:11:33.612029+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.192","user_name":"Bryony Thompson","item_type":"entity","text":"Str: ftdals has been classified as Green List (High Evidence).","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T17:11:05.578393+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.191","user_name":"Bryony Thompson","item_type":"entity","text":"STR: FTDALS was added\nSTR: FTDALS was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for STR: FTDALS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FTDALS were set to 26166205; 24363131; 26187722; 25577942; 21944779; 21944778\nPhenotypes for STR: FTDALS were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550\nReview for STR: FTDALS was set to GREEN\nSTR: FTDALS was marked as clinically relevant\nAdded comment: NG_031977​.1:g.5321GGGGCC[X]\r\nRepeat expansion affects the protein degradation pathways and may contribute to TDP‐43 accumulation\r\nNormal alleles: ≤25 G4C2 hexanucleotide repeat units generally considered normal\r\nPathogenic high-penetrance alleles: ≥60 G4C2 hexanucleotide repeat units are considered pathogenic\r\nNote: The minimal size of a G4C2 pathogenic repeat is under debate: some studies consider repeats of >30 G4C2 hexanucleotide repeat units as pathogenic, whereas others use a cutoff of 60 G4C2 hexanucleotide repeat units. \nSources: Expert list","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T17:08:18.057716+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.190","user_name":"Bryony Thompson","item_type":"panel","text":"removed STR:C9orf72 from the panel","entity_name":null,"entity_type":null},{"created":"2021-08-28T17:07:20.182568+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.114","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: FTDALS as ready","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T17:07:20.173821+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.114","user_name":"Bryony Thompson","item_type":"entity","text":"Str: ftdals has been classified as Green List (High Evidence).","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T17:07:15.632823+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.114","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: FTDALS as Green List (high evidence)","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T17:07:15.622165+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.114","user_name":"Bryony Thompson","item_type":"entity","text":"Str: ftdals has been classified as Green List (High Evidence).","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T17:06:42.259127+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.113","user_name":"Bryony Thompson","item_type":"entity","text":"STR: FTDALS was added\nSTR: FTDALS was added to Early-onset Parkinson disease. Sources: Expert list\nMode of inheritance for STR: FTDALS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FTDALS were set to 25577942; 21944779; 21944778; 31779815\nPhenotypes for STR: FTDALS were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550\nReview for STR: FTDALS was set to GREEN\nSTR: FTDALS was marked as clinically relevant\nAdded comment: NG_031977​.1:g.5321GGGGCC[X]\r\nRepeat expansion affects the protein degradation pathways and may contribute to TDP‐43 accumulation\r\nNormal alleles: ≤25 G4C2 hexanucleotide repeat units generally considered normal\r\nPathogenic high-penetrance alleles: ≥60 G4C2 hexanucleotide repeat units are considered pathogenic\r\nNote: The minimal size of a G4C2 pathogenic repeat is under debate: some studies consider repeats of >30 G4C2 hexanucleotide repeat units as pathogenic, whereas others use a cutoff of 60 G4C2 hexanucleotide repeat units. \nSources: Expert list","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T17:03:15.707715+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.112","user_name":"Bryony Thompson","item_type":"panel","text":"removed STR:C9orf72 from the panel","entity_name":null,"entity_type":null},{"created":"2021-08-28T17:01:01.605149+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.130","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: FTDALS as ready","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T17:01:01.595357+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.130","user_name":"Bryony Thompson","item_type":"entity","text":"Str: ftdals has been classified as Green List (High Evidence).","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T17:00:56.047539+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.130","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: FTDALS as Green List (high evidence)","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T17:00:56.036899+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.130","user_name":"Bryony Thompson","item_type":"entity","text":"Str: ftdals has been classified as Green List (High Evidence).","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T17:00:25.066390+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.129","user_name":"Bryony Thompson","item_type":"entity","text":"STR: FTDALS was added\nSTR: FTDALS was added to Motor Neurone Disease. Sources: Expert list\nMode of inheritance for STR: FTDALS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FTDALS were set to 25577942; 21944779; 21944778\nPhenotypes for STR: FTDALS were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550\nReview for STR: FTDALS was set to GREEN\nSTR: FTDALS was marked as clinically relevant\nAdded comment: NG_031977​.1:g.5321GGGGCC[X]\r\nRepeat expansion affects the protein degradation pathways and may contribute to TDP‐43 accumulation\r\nNormal alleles: ≤25 G4C2 hexanucleotide repeat units generally considered normal\r\nPathogenic high-penetrance alleles: ≥60 G4C2 hexanucleotide repeat units are considered pathogenic\r\nNote: The minimal size of a G4C2 pathogenic repeat is under debate: some studies consider repeats of >30 G4C2 hexanucleotide repeat units as pathogenic, whereas others use a cutoff of 60 G4C2 hexanucleotide repeat units. \nSources: Expert list","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T16:56:22.503852+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.139","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: FTDALS as ready","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T16:56:22.495070+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.139","user_name":"Bryony Thompson","item_type":"entity","text":"Str: ftdals has been classified as Green List (High Evidence).","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T16:54:35.514363+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.128","user_name":"Bryony Thompson","item_type":"panel","text":"removed STR:C9orf72 from the panel","entity_name":null,"entity_type":null},{"created":"2021-08-28T16:54:15.260777+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.139","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: FTDALS as Green List (high evidence)","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T16:54:15.220770+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.139","user_name":"Bryony Thompson","item_type":"entity","text":"Str: ftdals has been classified as Green List (High Evidence).","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T16:53:21.930843+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.138","user_name":"Bryony Thompson","item_type":"entity","text":"STR: FTDALS was added\nSTR: FTDALS was added to Early-onset Dementia. Sources: Expert list\nMode of inheritance for STR: FTDALS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FTDALS were set to 25577942; 21944779; 21944778\nPhenotypes for STR: FTDALS were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550\nReview for STR: FTDALS was set to GREEN\nSTR: FTDALS was marked as clinically relevant\nAdded comment: NG_031977​.1:g.5321GGGGCC[X]\r\nRepeat expansion affects the protein degradation pathways and may contribute to TDP‐43 accumulation\r\nNormal alleles: ≤25 G4C2 hexanucleotide repeat units generally considered normal\r\nPathogenic high-penetrance alleles: ≥60 G4C2 hexanucleotide repeat units are considered pathogenic\r\nNote: The minimal size of a G4C2 pathogenic repeat is under debate: some studies consider repeats of >30 G4C2 hexanucleotide repeat units as pathogenic, whereas others use a cutoff of 60 G4C2 hexanucleotide repeat units. \nSources: Expert list","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T16:49:32.802157+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.137","user_name":"Bryony Thompson","item_type":"panel","text":"removed STR:C9orf72 from the panel","entity_name":null,"entity_type":null},{"created":"2021-08-28T16:47:44.527648+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.84","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: FTDALS as ready","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T16:47:44.519241+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.84","user_name":"Bryony Thompson","item_type":"entity","text":"Str: ftdals has been classified as Green List (High Evidence).","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T16:47:20.453283+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.84","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: FTDALS as Green List (high evidence)","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T16:47:20.443226+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.84","user_name":"Bryony Thompson","item_type":"entity","text":"Str: ftdals has been classified as Green List (High Evidence).","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T16:47:09.369329+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.83","user_name":"Bryony Thompson","item_type":"entity","text":"STR: FTDALS was added\nSTR: FTDALS was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: FTDALS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FTDALS were set to 25577942; 21944779; 21944778\nPhenotypes for STR: FTDALS were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550\nReview for STR: FTDALS was set to GREEN\nSTR: FTDALS was marked as clinically relevant\nAdded comment: NG_031977​.1:g.5321GGGGCC[X]\r\nRepeat expansion affects the protein degradation pathways and may contribute to TDP‐43 accumulation\r\nNormal alleles: ≤25 G4C2 hexanucleotide repeat units generally considered normal\r\nPathogenic high-penetrance alleles: ≥60 G4C2 hexanucleotide repeat units are considered pathogenic\r\nNote: The minimal size of a G4C2 pathogenic repeat is under debate: some studies consider repeats of >30 G4C2 hexanucleotide repeat units as pathogenic, whereas others use a cutoff of 60 G4C2 hexanucleotide repeat units. \nSources: Expert list","entity_name":"FTDALS","entity_type":"str"},{"created":"2021-08-28T16:34:32.323736+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.82","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for STR: SCA12 were set to 27864267; 33811808","entity_name":"SCA12","entity_type":"str"},{"created":"2021-08-28T16:34:21.164310+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.81","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of STR: SCA12: Changed publications: 27864267, 33811808, 10581021","entity_name":"SCA12","entity_type":"str"},{"created":"2021-08-28T16:32:55.796666+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.81","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for STR: SCA8 were set to 20301445","entity_name":"SCA8","entity_type":"str"},{"created":"2021-08-28T16:32:36.775714+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.80","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of STR: SCA8: Changed publications: 20301445, 10192387","entity_name":"SCA8","entity_type":"str"},{"created":"2021-08-28T16:30:18.245622+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.80","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for STR: FXPOI were set to 20301558","entity_name":"FXPOI","entity_type":"str"},{"created":"2021-08-28T16:30:01.635854+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.79","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of STR: FXPOI: Changed publications: 20301558, 9647544","entity_name":"FXPOI","entity_type":"str"},{"created":"2021-08-28T16:28:06.602344+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.79","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for STR: EPM1 were set to 29325606; 20301321","entity_name":"EPM1","entity_type":"str"},{"created":"2021-08-28T16:27:56.083573+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.78","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of STR: EPM1: Changed publications: 29325606, 20301321, 9126745","entity_name":"EPM1","entity_type":"str"},{"created":"2021-08-28T16:26:42.728541+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.78","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for STR: FRDA were set to 20301458","entity_name":"FRDA","entity_type":"str"},{"created":"2021-08-28T16:26:31.627496+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of STR: FRDA: Changed publications: 20301458, 8596916","entity_name":"FRDA","entity_type":"str"},{"created":"2021-08-28T16:24:08.171386+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for STR: DM1 were set to 20301344; 29325606","entity_name":"DM1","entity_type":"str"},{"created":"2021-08-28T16:23:55.150626+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of STR: DM1: Changed publications: 20301344, 29325606, 1546325","entity_name":"DM1","entity_type":"str"},{"created":"2021-08-28T16:21:28.357758+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for STR: FXS were set to 33795824; 25227148","entity_name":"FXS","entity_type":"str"},{"created":"2021-08-28T16:21:10.994174+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.75","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of STR: FXS: Changed publications: 33795824, 25227148, 1710175, 2031184","entity_name":"FXS","entity_type":"str"},{"created":"2021-08-28T15:59:06.235074+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8970","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for STR: SCA36 were set to 25101480","entity_name":"SCA36","entity_type":"str"}]}